Correlation power analysis(CPA)combined with genetic algorithms(GA)now achieves greater attack efficiency and can recover all subkeys simultaneously.However,two issues in GA-based CPA still need to be addressed:key de...Correlation power analysis(CPA)combined with genetic algorithms(GA)now achieves greater attack efficiency and can recover all subkeys simultaneously.However,two issues in GA-based CPA still need to be addressed:key degeneration and slow evolution within populations.These challenges significantly hinder key recovery efforts.This paper proposes a screening correlation power analysis framework combined with a genetic algorithm,named SFGA-CPA,to address these issues.SFGA-CPA introduces three operations designed to exploit CPA characteris-tics:propagative operation,constrained crossover,and constrained mutation.Firstly,the propagative operation accelerates population evolution by maximizing the number of correct bytes in each individual.Secondly,the constrained crossover and mutation operations effectively address key degeneration by preventing the compromise of correct bytes.Finally,an intelligent search method is proposed to identify optimal parameters,further improving attack efficiency.Experiments were conducted on both simulated environments and real power traces collected from the SAKURA-G platform.In the case of simulation,SFGA-CPA reduces the number of traces by 27.3%and 60%compared to CPA based on multiple screening methods(MS-CPA)and CPA based on simple GA method(SGA-CPA)when the success rate reaches 90%.Moreover,real experimental results on the SAKURA-G platform demonstrate that our approach outperforms other methods.展开更多
Genetic transformation has been an effective technology for improving the agronomic traits of maize.However,it is highly reliant on the use of embryonic callus(EC)and shows a serious genotype dependence.In this study,...Genetic transformation has been an effective technology for improving the agronomic traits of maize.However,it is highly reliant on the use of embryonic callus(EC)and shows a serious genotype dependence.In this study,we performed genomic sequencing for 80 core maize germplasms and constructed a high-density genomic variation map using our newly developed pipeline(MQ2Gpipe).Based on the induction rate of EC(REC),these inbred lines were categorized into three subpopulations.The low-REC germplasms displayed more abundant genetic diversity than the high-REC germplasms.By integrating a genome-wide selective signature screen and region-based association analysis,we revealed 95.23 Mb of selective regions and 43 REC-associated variants.These variants had phenotypic variance explained values ranging between 21.46 and 49.46%.In total,103 candidate genes were identified within the linkage disequilibrium regions of these REC-associated loci.These genes mainly participate in regulation of the cell cycle,regulation of cytokinesis,and other functions,among which MYB15 and EMB2745 were located within the previously reported QTL for EC induction.Numerous leaf area-associated variants with large effects were closely linked to several REC-related loci,implying a potential synergistic selection of REC and leaf size during modern maize breeding.展开更多
In this study, a hybrid machine learning (HML)-based approach, incorporating Genetic data analysis (GDA), is proposed to accurately identify the presence of adenomatous colorectal polyps (ACRP) which is a crucial earl...In this study, a hybrid machine learning (HML)-based approach, incorporating Genetic data analysis (GDA), is proposed to accurately identify the presence of adenomatous colorectal polyps (ACRP) which is a crucial early detector of colorectal cancer (CRC). The present study develops a classification ensemble model based on tuned hyperparameters. Surpassing accuracy percentages of early detection approaches used in previous studies, the current method exhibits exceptional performance in identifying ACRP and diagnosing CRC, overcoming limitations of CRC traditional methods that are based on error-prone manual examination. Particularly, the method demonstrates the following CRP identification accuracy data: 97.7 ± 1.1, precision: 94.3 ± 5, recall: 96.0 ± 3, F1-score: 95.7 ± 4, specificity: 97.3 ± 1.2, average AUC: 0.97.3 ± 0.02, and average p-value: 0.0425 ± 0.07. The findings underscore the potential of this method for early detection of ACRP as well as clinical use in the development of CRC treatment planning strategies. The advantages of this approach are highly expected to contribute to the prevention and reduction of CRC mortality.展开更多
Diversity information mining about a crop for different attributes is an essential step for effective breeding programs.The present investigation evaluates the quantum of genetic variability and determines the relatio...Diversity information mining about a crop for different attributes is an essential step for effective breeding programs.The present investigation evaluates the quantum of genetic variability and determines the relationship among the important agro-economic traits based on two years of phenotypic data of 210 accessions of linseed.The traits,capsule weight per plant,capsule per plant,husk weight per plant,and seed weight per plant exhibited comparatively higher genetic coefficient of variation(GCV)and phenotypic coefficient of variation(PCV).In contrast,oil content and seed per capsule exhibited a lower value.The high magnitude of broad sense heritability was observed for all traits except seeds per capsule and husk weight per plant.The trait,capsules per plant,plant height,and days to 50%flowering showed high genetic advance coupled with high heritability.Hierarchical cluster analysis grouped 210 accessions into six distinct clusters.Out of 210,144(68.57%)accessions were grouped into three clusters(I,II,and III),in which cluster-III was the largest,containing 64 accessions followed by cluster II and cluster-I.The highest inter-cluster distance was observed between clusters-I and V(127.85),while the lowest was between clusters-II and IV(27.09).The positive correlation of capsule weight per plant with the seed weight per plant and a negative correlation with the days to 50%flowering indicates that high yielding linseed varieties with early flowering/maturity could be developed through direct and indirect selection.Further,seed yield and oil content could be enhanced together as indicated by ghe positive association among these two important traits.In this study,high yielding accessions with moderate to high oil content such as GP36,GP31,GP14,GP54,GP26,GP24,GP34,GP21,GP37 and GP27 and early flowering(less than 70 days)accessions such as GP2,GP26,GP27,CG33,CG44,CG42,CG132,and CG31 identified as potential genetic materials that could be exploited for developing early maturing varieties with high yield.In addition,information’s on various genetic parameters will help breeders to devise suitable breeding methodology for linseed genetic improvement for targeted traits.展开更多
Objective To systematically summarize the published literature on the genetic variants associated with nonalcoholic fatty liver disease(NAFLD).Methods Literature from Web of Science,PubMed,and Embase between January 1...Objective To systematically summarize the published literature on the genetic variants associated with nonalcoholic fatty liver disease(NAFLD).Methods Literature from Web of Science,PubMed,and Embase between January 1980 and September 2022 was systematically searched.Meta-analyses of the genetic variants were conducted using at least five data sources.The epidemiologic credibility of the significant associations was graded using the Venice criteria.Results Based on literature screening,399 eligible studies were included,comprising 381 candidate gene association,16 genome-wide association,and 2 whole-exome sequencing studies.We identified 465 genetic variants in 173 genes in candidate gene association studies,and 25 genetic variants in 17 genes were included in the meta-analysis.The meta-analysis identified 11 variants in 10 genes that were significantly associated with NAFLD,with cumulative epidemiological evidence of an association graded as strong for two variants in two genes(HFE,TNF),moderate for four variants in three genes(TM6SF2,GCKR,and ADIPOQ),and weak for five variants in five genes(MBOAT7,PEMT,PNPLA3,LEPR,and MTHFR).Conclusion This study identified six variants in five genes that had moderate to strong evidence of an association with NAFLD,which may help understand the genetic architecture of NAFLD risk.展开更多
Studying on the genetic diversity and genetic relationship of flowering cherry cultivars is extremely important for germplasm conservation, cultivar identification and breeding. Flowering cherry is widely cultivated a...Studying on the genetic diversity and genetic relationship of flowering cherry cultivars is extremely important for germplasm conservation, cultivar identification and breeding. Flowering cherry is widely cultivated as an important woody ornamental plant in worldwide, especially Japan, China. However, owning to the morphological similarity, many cultivars are distinguished hardly in non-flowering season. Here, we evaluated the genetic diversity and genetic relationship of 40 flowering cherry cultivars, which are mainly cultivated in China. We selected 13 polymorphicprimers to amplify to allele fragments with fluorescent-labeled capillary electrophoresis technology. The population structure analysis results show that these cultivars could be divided into 4 subpopulations. At the population level, N<sub>a</sub> and N<sub>e</sub> were 6.062, 4.326, respectively. H<sub>o</sub> and H<sub>e</sub> were 0.458 and 0.670, respectively. The Shannon’s information index (I) was 1.417. The Pop3, which originated from P. serrulata, had the highest H<sub>o</sub>, H<sub>e</sub>, and I among the 4 subpopulations. AMOVA showed that only 4% of genetic variation came from populations, the 39% variation came from individuals and 57% (p < 0.05) came from intra-individuals. 5 polymorphic SSR primers were selected to construct molecular ID code system of these cultivars. This analysis on the genetic diversity and relationship of the 40 flowering cherry cultivars will help to insight into the genetic background, relationship of these flowering cherry cultivars and promote to identify similar cultivars.展开更多
Caenogastropoda is a highly diverse group,containing~60%of all existing gastropods.Species in this subclass predominantly inhabit marine environments and have a high ecological and economic value.Owing to the increase...Caenogastropoda is a highly diverse group,containing~60%of all existing gastropods.Species in this subclass predominantly inhabit marine environments and have a high ecological and economic value.Owing to the increase in relevant phylogenetic studies,our understanding of between species relatedness in Caenogastropoda has improved.However,the biodiversity,taxonomic status,and phylogenetic relationships of this group remain unclear.In the present study,we performed next-generation sequencing of four complete mitochondrial genomes from three families(Buccinidae,Columbellidae,and Cypraeidae)and the four mitogenomes were classical circular structures,with a length of 16177 bp in Volutharpa ampullacea,16244 bp in Mitrella albuginosa,16926bp in Mauritia arabica asiatica and 15422 bp in Erronea errones.Base composition analysis indicated that whole sequences were biased toward A and T.Then compared them with 171 complete mitochondrial genomes of Caenogastropoda.The phylogenetic relationship of Caenogastropoda derived from Maximum Likelihood(ML)and Bayesian Inference(BI)trees constructed based on CDS sequences was consistent with the results of traditional morphological analysis,with all three families showing close relationships.This study supported Caenogastropoda at the molecular level as a separate clade of Mollusca.According to our divergence time estimations,Caenogastropoda was formed during the middle Triassic period(~247.2–237 Ma).Our novel mitochondrial genomes provide evidence for the speciation of Caenogastropoda in addition to elucidating the mitochondrial genomic evolution of this subclass.展开更多
Objective:Glucose-6-phosphate isomerase(GPI)deficiency is a rare hereditary nonspherocytic hemolytic anemia caused by GPI gene variants.This disorder exhibits wide heterogeneity in its clinical manifestations and mole...Objective:Glucose-6-phosphate isomerase(GPI)deficiency is a rare hereditary nonspherocytic hemolytic anemia caused by GPI gene variants.This disorder exhibits wide heterogeneity in its clinical manifestations and molecular characteristics,often posing challenges for precise diagnoses using conventional methods.To this end,this study aimed to identify the novel variants responsible for GPI deficiency in a Chinese family.Methods:The clinical manifestations of the patient were summarized and analyzed for GPI deficiency phenotype diagnosis.Novel compound heterozygous variants of the GPI gene,c.174C>A(p.Asn58Lys)and c.1538G>T(p.Trp513Leu),were identified using whole-exome and Sanger sequencing.The AlphaFold program and Chimera software were used to analyze the effects of compound heterozygous variants on GPI structure.Results:By characterizing 53 GPI missense/nonsense variants from previous literature and two novel missense variants identified in this study,we found that most variants were located in exons 3,4,12,and 18,with a few localized in exons 8,9,and 14.This study identified novel compound heterozygous variants associated with GPI deficiency.These pathogenic variants disrupt hydrogen bonds formed by highly conserved GPI amino acids.Conclusion:Early family-based sequencing analyses,especially for patients with congenital anemia,can help increase diagnostic accuracy for GPI deficiency,improve child healthcare,and enable genetic counseling.展开更多
Soil salinization poses a threat to maize production worldwide,but the genetic mechanism of salt tolerance in maize is not well understood.Therefore,identifying the genetic components underlying salt tolerance in maiz...Soil salinization poses a threat to maize production worldwide,but the genetic mechanism of salt tolerance in maize is not well understood.Therefore,identifying the genetic components underlying salt tolerance in maize is of great importance.In the current study,a teosinte-maize BC2F7 population was used to investigate the genetic basis of 21 salt tolerance-related traits.In total,125 QTLs were detected using a high-density genetic bin map,with one to five QTLs explaining 6.05–32.02%of the phenotypic variation for each trait.The total phenotypic variation explained(PVE)by all detected QTLs ranged from 6.84 to 63.88%for each trait.Of all 125 QTLs,only three were major QTLs distributed in two genomic regions on chromosome 6,which were involved in three salt tolerance-related traits.In addition,10 pairs of epistatic QTLs with additive effects were detected for eight traits,explaining 0.9 to 4.44%of the phenotypic variation.Furthermore,18 QTL hotspots affecting 3–7 traits were identified.In one hotspot(L5),a gene cluster consisting of four genes(ZmNSA1,SAG6,ZmCLCg,and ZmHKT1;2)was found,suggesting the involvement of multiple pleiotropic genes.Finally,two important candidate genes,Zm00001d002090 and Zm00001d002391,were found to be associated with salt tolerance-related traits by a combination of linkage and marker-trait association analyses.Zm00001d002090 encodes a calcium-dependent lipid-binding(CaLB domain)family protein,which may function as a Ca^(2+)sensor for transmitting the salt stress signal downstream,while Zm00001d002391 encodes a ubiquitin-specific protease belonging to the C19-related subfamily.Our findings provide valuable insights into the genetic basis of salt tolerance-related traits in maize and a theoretical foundation for breeders to develop enhanced salt-tolerant maize varieties.展开更多
The Chinese crested duck is a unique duck breed having a bulbous feather shape on its duck head.However,the mechanisms involved in its formation and development are unclear.In the present study,RNA sequencing analysis...The Chinese crested duck is a unique duck breed having a bulbous feather shape on its duck head.However,the mechanisms involved in its formation and development are unclear.In the present study,RNA sequencing analysis was performed on the crested tissues of 6 Chinese crested ducks and the scalp tissues of 6 cherry valley ducks(CVs)from 2 developmental stages.This study identified 261 differentially expressed genes(DEGs),122 upregulated and 139 downregulated,in the E28 stage and 361 DEGs,154 upregulated and 207 downregulated in the D42 stage between CC and CV ducks.The subsequent results of weighted gene co-expression network analysis(WGCNA)revealed that the turquoise and cyan modules were associated with the crest trait in the D42 stage,meanwhile,the green,brown,and pink modules were associated with the crest trait in the E28 stage.Venn analysis of the DEGs and WGCNA showed that 145 and 45 genes are associated between the D42 and E28 stages,respectively.The expression of WNT16,BMP2,SLC35F2,SLC6A15,APOBEC2,ABHD6,TNNC2,MYL1,and TNNI2 were verified by real-time quantitative PCR.This study provides an approach to reveal the molecular mechanisms underlying the crested trait development.展开更多
Sweetpotato, Ipomoea batatas(L.) Lam., is an important food crop worldwide. Large scale evaluation of sweetpotato germplasm for genetic diversity is necessary to determine the genetic relationships between them and ef...Sweetpotato, Ipomoea batatas(L.) Lam., is an important food crop worldwide. Large scale evaluation of sweetpotato germplasm for genetic diversity is necessary to determine the genetic relationships between them and effectively use them in the genetic improvement. In this study, the genetic diversity of 617 sweetpotato accessions, including 376landraces and 162 bred varieties from China and 79 introduced varieties from 11 other countries, was assessed using 30 simple sequence repeat(SSR) primer pairs with high polymorphism. Based on the population structure analysis,these sweetpotato accessions were divided into three groups, Group 1, Group 2 and Group 3, which included 228, 136and 253 accessions, respectively. Consistent results were obtained by phylogenic analysis and principal coordinate analysis(PCoA). Of the three groups, Group 2 showed the highest level of genetic diversity and its accessions were mainly distributed in low-latitude regions. The accessions from South China exhibited the highest level of genetic diversity, which supports the hypothesis that Fujian and Guangdong were the first regions where sweetpotato was introduced to China. Analysis of molecular variance(AMOVA) indicated significant genetic differentiations between the different groups, but low levels of genetic differentiation existed between the different origins and accession types.These results provide valuable information for the better utilization of these accessions in sweetpotato breeding.展开更多
Exploring genetic mechanism of the first female flower node and the first male flower node in bitter gourd has practical significance for formulating breeding strategy. In this article, a cross was made between CN19-1...Exploring genetic mechanism of the first female flower node and the first male flower node in bitter gourd has practical significance for formulating breeding strategy. In this article, a cross was made between CN19-1 and Thai4-6, and the F2segregation population was also constructed through F1selfing. The genetic characteristics of the first female flower node and the first male flower node were analyzed by adopting the major gene plus polygene mixed genetic model. The data analysis results showed that the first female flower node and the first male flower node were continuous distribution in the F2segregation population. E-2 model was the most suitable model for the genetic analysis of the first female flower node and the first male flower node. The additive effect values of the 2 pairs of major genes controlling the first female flower node were 2.722 and 1.862 8 respectively, the dominant effect values were-2.721 6 and-0.171 8, respectively. The additive effect value of polygene was-0.839 2, and the dominant effect value of polygene was 2.225 4. The heritability of major genes and polygene were 83.73% and 1.54%, respectively. The additive effect values of the 2 pairs of major genes controlling the first male flower node were 17.746 9 and 3.972, respectively, the dominant effect values were 5.191 6 and-3.972, respectively. The additive effect value of polygene was-20.530 5, and the dominant effect value was-4.141 4. The heritability of major genes and polygene was 92.34% and 4.7%, respectively. This study could provide a theoretical basis for bitter gourd breeding.展开更多
Background:Atrial septal defect(ASD)is one of the common congenital heart diseases.The MYH6 gene has a critical role in cardiac development but the role of MYH6 promoter variants in patients with ASD has not been expl...Background:Atrial septal defect(ASD)is one of the common congenital heart diseases.The MYH6 gene has a critical role in cardiac development but the role of MYH6 promoter variants in patients with ASD has not been explored.Methods:In 613 subjects including 320 ASD patients,we investigated the MYH6 gene promoter variants and verified the effect on gene expression by using cellular functional experiments and bioinformatics analysis.Results:Eleven variants were identified in the MYH6 gene promoter,of which four variants were found only in ASD patients,and two variants(g.3434G>C and g.4524C>T)were identified for the first time.Cellular functional experiments indicated that all four variants reduced the transcriptional activity of the MYH6 gene promoter(p<0.05).Subsequent analysis through the JASPAR(A database of transcription factor binding profiles)suggests that these variants may alter transcription factor binding sites,which may in turn lead to changes in myocardin subunit expression and ASD formation.Conclusions:Our study for the first time focuses on variants in the promoter region of the MYH6 gene in Chinese patients with ASD and the discovered variants have functional significance.The study provides new insights in the role of the MYH6 gene promoter region to better understand the genetic basis of ASD formation and facilitates clinical diagnosis.展开更多
Immune changes and inflammatory responses have been identified as central events in the pathological process of spinal co rd injury.They can greatly affect nerve regeneration and functional recovery.However,there is s...Immune changes and inflammatory responses have been identified as central events in the pathological process of spinal co rd injury.They can greatly affect nerve regeneration and functional recovery.However,there is still limited understanding of the peripheral immune inflammato ry response in spinal cord inju ry.In this study.we obtained microRNA expression profiles from the peripheral blood of patients with spinal co rd injury using high-throughput sequencing.We also obtained the mRNA expression profile of spinal cord injury patients from the Gene Expression Omnibus(GEO)database(GSE151371).We identified 54 differentially expressed microRNAs and 1656 diffe rentially expressed genes using bioinformatics approaches.Functional enrichment analysis revealed that various common immune and inflammation-related signaling pathways,such as neutrophil extracellular trap formation pathway,T cell receptor signaling pathway,and nuclear factor-κB signal pathway,we re abnormally activated or inhibited in spinal cord inju ry patient samples.We applied an integrated strategy that combines weighted gene co-expression network analysis,LASSO logistic regression,and SVM-RFE algorithm and identified three biomarke rs associated with spinal cord injury:ANO10,BST1,and ZFP36L2.We verified the expression levels and diagnostic perfo rmance of these three genes in the original training dataset and clinical samples through the receiver operating characteristic curve.Quantitative polymerase chain reaction results showed that ANO20 and BST1 mRNA levels were increased and ZFP36L2 mRNA was decreased in the peripheral blood of spinal cord injury patients.We also constructed a small RNA-mRNA interaction network using Cytoscape.Additionally,we evaluated the proportion of 22 types of immune cells in the peripheral blood of spinal co rd injury patients using the CIBERSORT tool.The proportions of naive B cells,plasma cells,monocytes,and neutrophils were increased while the proportions of memory B cells,CD8^(+)T cells,resting natural killer cells,resting dendritic cells,and eosinophils were markedly decreased in spinal cord injury patients increased compared with healthy subjects,and ANO10,BST1 and ZFP26L2we re closely related to the proportion of certain immune cell types.The findings from this study provide new directions for the development of treatment strategies related to immune inflammation in spinal co rd inju ry and suggest that ANO10,BST2,and ZFP36L2 are potential biomarkers for spinal cord injury.The study was registe red in the Chinese Clinical Trial Registry(registration No.ChiCTR2200066985,December 12,2022).展开更多
Background In early adolescence,youth are highly prone to suicidal behaviours.Identifying modifiable risk factors during this critical phase is a priority to inform effective suicide prevention strategies.Aims To expl...Background In early adolescence,youth are highly prone to suicidal behaviours.Identifying modifiable risk factors during this critical phase is a priority to inform effective suicide prevention strategies.Aims To explore the risk and protective factors of suicidal behaviours(ie,suicidal ideation,plans and attempts)in early adolescence in China using a social-ecological perspective.Methods Using data from the cross-sectional project‘Healthy and Risky Behaviours Among Middle School Students in Anhui Province,China',stratified random cluster sampling was used to select 5724 middle school students who had completed self-report questionnaires in November 2020.Network analysis was employed to examine the correlates of suicidal ideation,plans and attempts at four levels,namely individual(sex,academic performance,serious physical llness/disability,history of self-harm,depression,impulsivity,sleep problems,resilience),family(family economic status,relationship with mother,relationship with father,family violence,childhood abuse,parental mental illness),school(relationship with teachers,relationship with classmates,school-bullying victimisation and perpetration)and social(social support,satisfaction with society).Results In total,37.9%,19.0%and 5.5%of the students reported suicidal ideation,plans and attempts in the past 6 months,respectively.The estimated network revealed that suicidal ideation,plans and attempts were collectively associated with a history of self-harm,sleep problems,childhood abuse,school bullying and victimisation.Centrality analysis indicated that the most influential nodes in the network were history of self-harm and childhood abuse.Notably,the network also showed unique correlates of suicidal ideation(sex,weight=0.60;impulsivity,weight=0.24;family violence,weight=0.17;relationship with teachers,weight=-0.03;school-bullying perpetration,weight=0.22),suicidal plans(social support,weight=-0.15)and suicidal attempts(relationship with mother,weight=-0.10;parental mental llness,weight=0.61).Conclusions This study identified the correlates of suicidal ideation,plans and attempts,and provided practical implications for suicide prevention for young adolescents in China.Firstly,this study highlighted the importance of joint interventions across multiple departments.Secondly,the common risk factors of suicidal ideation,plans and attempts were elucidated.Thirdly,this study proposed target interventions to address the unique influencing factors of suicidal ideation,plans and attempts.展开更多
In this research,an integrated classification method based on principal component analysis-simulated annealing genetic algorithm-fuzzy cluster means(PCA-SAGA-FCM)was proposed for the unsupervised classification of tig...In this research,an integrated classification method based on principal component analysis-simulated annealing genetic algorithm-fuzzy cluster means(PCA-SAGA-FCM)was proposed for the unsupervised classification of tight sandstone reservoirs which lack the prior information and core experiments.A variety of evaluation parameters were selected,including lithology characteristic parameters,poro-permeability quality characteristic parameters,engineering quality characteristic parameters,and pore structure characteristic parameters.The PCA was used to reduce the dimension of the evaluation pa-rameters,and the low-dimensional data was used as input.The unsupervised reservoir classification of tight sandstone reservoir was carried out by the SAGA-FCM,the characteristics of reservoir at different categories were analyzed and compared with the lithological profiles.The analysis results of numerical simulation and actual logging data show that:1)compared with FCM algorithm,SAGA-FCM has stronger stability and higher accuracy;2)the proposed method can cluster the reservoir flexibly and effectively according to the degree of membership;3)the results of reservoir integrated classification match well with the lithologic profle,which demonstrates the reliability of the classification method.展开更多
Ce rebral palsy is a diagnostic term utilized to describe a group of permanent disorders affecting movement and posture.Patients with cerebral palsy are often only capable of limited activity,resulting from non-progre...Ce rebral palsy is a diagnostic term utilized to describe a group of permanent disorders affecting movement and posture.Patients with cerebral palsy are often only capable of limited activity,resulting from non-progressive disturbances in the fetal or neonatal brain.These disturbances severely impact the child’s daily life and impose a substantial economic burden on the family.Although cerebral palsy encompasses various brain injuries leading to similar clinical outcomes,the unde rstanding of its etiological pathways remains incomplete owing to its complexity and heterogeneity.This review aims to summarize the current knowledge on the genetic factors influencing cerebral palsy development.It is now widely acknowledged that genetic mutations and alterations play a pivotal role in cerebral palsy development,which can be further influenced by environmental fa ctors.Des pite continuous research endeavors,the underlying fa ctors contributing to cerebral palsy remain are still elusive.However,significant progress has been made in genetic research that has markedly enhanced our comprehension of the genetic factors underlying cerebral palsy development.Moreove r,these genetic factors have been categorized based on the identified gene mutations in patients through clinical genotyping,including thrombosis,angiogenesis,mitochondrial and oxidative phosphorylation function,neuronal migration,and cellular autophagy.Furthermore,exploring targeted genotypes holds potential for precision treatment.In conclusion,advancements in genetic research have substantially improved our understanding of the genetic causes underlying cerebral palsy.These breakthroughs have the potential to pave the way for new treatments and therapies,consequently shaping the future of cerebral palsy research and its clinical management.The investigation of cerebral palsy genetics holds the potential to significantly advance treatments and management strategies.By elucidating the underlying cellular mechanisms,we can develop to rgeted interventions to optimize outcomes.A continued collaboration between researchers and clinicians is imperative to comprehensively unravel the intricate genetic etiology of cerebral palsy.展开更多
The replacement of winter wheat varieties has contributed significantly to yield improvement worldwide,with remarkable progress in China.Drawing on two sets of data,production yield from the National Bureau of Statist...The replacement of winter wheat varieties has contributed significantly to yield improvement worldwide,with remarkable progress in China.Drawing on two sets of data,production yield from the National Bureau of Statistics of China and experimental yield from literature,this study aims to(1)illustrate the increasing patterns of production yield among different provinces from 1978 to 2018 in China,(2)explore the genetic gain in yield and yield relevant traits through the variety replacement based on experimental yield from 1937 to 2016 in China,and(3)compare the yield gap between experimental yield and production yield.The results show that both the production and experimental yields significantly increased along with the variety replacement.The national annual yield increase ratio for the production yield was 1.67%from 1978 to 2018,varying from 0.96%in Sichuan Province to 2.78%in Hebei Province;such ratio for the experimental yield was 1.13%from 1937 to 2016.The yield gap between experimental and production yields decreased from the 1970s to the 2010s.This study reveals significant increases in some yield components consequent to variety replacement,including thousand-grain weight,kernel number per spike,and grain number per square meter;however,no change is shown in spike number per square meter.The biomass and harvest index consistently and significantly increased,whereas the plant height decreased significantly.展开更多
Liver cancer,primarily hepatocellular carcinoma,remains a global health challenge with rising incidence and limited therapeutic options.Genetic factors play a pivotal role in the development and progression of liver c...Liver cancer,primarily hepatocellular carcinoma,remains a global health challenge with rising incidence and limited therapeutic options.Genetic factors play a pivotal role in the development and progression of liver cancer.This state-of-the-art paper provides a comprehensive review of the current landscape of genetic screening strategies for liver cancer.We discuss the genetic underpinnings of liver cancer,emphasizing the critical role of risk-associated genetic variants,somatic mutations,and epigenetic alterations.We also explore the intricate interplay between environmental factors and genetics,highlighting how genetic screening can aid in risk stratification and early detection via using liquid biopsy,and advancements in high-throughput sequencing technologies.By synthesizing the latest research findings,we aim to provide a comprehensive overview of the state-of-the-art genetic screening methods for liver cancer,shedding light on their potential to revolutionize early detection,risk assessment,and targeted therapies in the fight against this devastating disease.展开更多
Larix resources in the Qinghai-Tibet Plateau have important ecological and economic values.However,the lack of genetic diversity background and related research hinders the development of conservation strategies.In th...Larix resources in the Qinghai-Tibet Plateau have important ecological and economic values.However,the lack of genetic diversity background and related research hinders the development of conservation strategies.In this study,genetic diversity and distribution of fi ve Larix species were investigated.Using 19 polymorphic microsatellite markers to study 272 representative individuals from 13 populations,the results show low genetic diversity at the population level,with variation explained mainly by diff erentiation among populations.The Larix populations were classifi ed into two clades,one formed by eight populations,including three of the species in this study,L.kongboensis,L.speciosa,and L.potaninii var.australis.The other clade consists of fi ve populations,including the other two species in this study,L.griffi thii and L.himalaica.Genetic distance of the species was aff ected by geographical isolation and genetic diversity was mainly aff ected by altitude.The area suitable for Larix spp.decreased during the Last Glacial Maximum compared to the current distribution according to the niche model,but should increase in future climate scenarios(2050s),expanding westward along the Himalayas.These results provide an important scientifi c basis for the development of conservation strategies and further the sustainable utilization of Larix resources in the Qinghai-Tibet Plateau.展开更多
基金supported by the Hunan Provincial Natrual Science Foundation of China(2022JJ30103)“the 14th Five-Year”Key Disciplines and Application Oriented Special Disciplines of Hunan Province(Xiangjiaotong[2022],351)the Science and Technology Innovation Program of Hunan Province(2016TP1020).
文摘Correlation power analysis(CPA)combined with genetic algorithms(GA)now achieves greater attack efficiency and can recover all subkeys simultaneously.However,two issues in GA-based CPA still need to be addressed:key degeneration and slow evolution within populations.These challenges significantly hinder key recovery efforts.This paper proposes a screening correlation power analysis framework combined with a genetic algorithm,named SFGA-CPA,to address these issues.SFGA-CPA introduces three operations designed to exploit CPA characteris-tics:propagative operation,constrained crossover,and constrained mutation.Firstly,the propagative operation accelerates population evolution by maximizing the number of correct bytes in each individual.Secondly,the constrained crossover and mutation operations effectively address key degeneration by preventing the compromise of correct bytes.Finally,an intelligent search method is proposed to identify optimal parameters,further improving attack efficiency.Experiments were conducted on both simulated environments and real power traces collected from the SAKURA-G platform.In the case of simulation,SFGA-CPA reduces the number of traces by 27.3%and 60%compared to CPA based on multiple screening methods(MS-CPA)and CPA based on simple GA method(SGA-CPA)when the success rate reaches 90%.Moreover,real experimental results on the SAKURA-G platform demonstrate that our approach outperforms other methods.
基金supported by the National Key Research and Development Program of China(2021YFF1000303)the National Nature Science Foundation of China(32072073,32001500,and 32101777)the Sichuan Science and Technology Program,China(2021JDTD0004 and 2021YJ0476)。
文摘Genetic transformation has been an effective technology for improving the agronomic traits of maize.However,it is highly reliant on the use of embryonic callus(EC)and shows a serious genotype dependence.In this study,we performed genomic sequencing for 80 core maize germplasms and constructed a high-density genomic variation map using our newly developed pipeline(MQ2Gpipe).Based on the induction rate of EC(REC),these inbred lines were categorized into three subpopulations.The low-REC germplasms displayed more abundant genetic diversity than the high-REC germplasms.By integrating a genome-wide selective signature screen and region-based association analysis,we revealed 95.23 Mb of selective regions and 43 REC-associated variants.These variants had phenotypic variance explained values ranging between 21.46 and 49.46%.In total,103 candidate genes were identified within the linkage disequilibrium regions of these REC-associated loci.These genes mainly participate in regulation of the cell cycle,regulation of cytokinesis,and other functions,among which MYB15 and EMB2745 were located within the previously reported QTL for EC induction.Numerous leaf area-associated variants with large effects were closely linked to several REC-related loci,implying a potential synergistic selection of REC and leaf size during modern maize breeding.
文摘In this study, a hybrid machine learning (HML)-based approach, incorporating Genetic data analysis (GDA), is proposed to accurately identify the presence of adenomatous colorectal polyps (ACRP) which is a crucial early detector of colorectal cancer (CRC). The present study develops a classification ensemble model based on tuned hyperparameters. Surpassing accuracy percentages of early detection approaches used in previous studies, the current method exhibits exceptional performance in identifying ACRP and diagnosing CRC, overcoming limitations of CRC traditional methods that are based on error-prone manual examination. Particularly, the method demonstrates the following CRP identification accuracy data: 97.7 ± 1.1, precision: 94.3 ± 5, recall: 96.0 ± 3, F1-score: 95.7 ± 4, specificity: 97.3 ± 1.2, average AUC: 0.97.3 ± 0.02, and average p-value: 0.0425 ± 0.07. The findings underscore the potential of this method for early detection of ACRP as well as clinical use in the development of CRC treatment planning strategies. The advantages of this approach are highly expected to contribute to the prevention and reduction of CRC mortality.
基金supported by the Department of Biotechnology,Government of India,New Delhi.Grant Number-BT/Ag/Network/Linseed/2019-20.
文摘Diversity information mining about a crop for different attributes is an essential step for effective breeding programs.The present investigation evaluates the quantum of genetic variability and determines the relationship among the important agro-economic traits based on two years of phenotypic data of 210 accessions of linseed.The traits,capsule weight per plant,capsule per plant,husk weight per plant,and seed weight per plant exhibited comparatively higher genetic coefficient of variation(GCV)and phenotypic coefficient of variation(PCV).In contrast,oil content and seed per capsule exhibited a lower value.The high magnitude of broad sense heritability was observed for all traits except seeds per capsule and husk weight per plant.The trait,capsules per plant,plant height,and days to 50%flowering showed high genetic advance coupled with high heritability.Hierarchical cluster analysis grouped 210 accessions into six distinct clusters.Out of 210,144(68.57%)accessions were grouped into three clusters(I,II,and III),in which cluster-III was the largest,containing 64 accessions followed by cluster II and cluster-I.The highest inter-cluster distance was observed between clusters-I and V(127.85),while the lowest was between clusters-II and IV(27.09).The positive correlation of capsule weight per plant with the seed weight per plant and a negative correlation with the days to 50%flowering indicates that high yielding linseed varieties with early flowering/maturity could be developed through direct and indirect selection.Further,seed yield and oil content could be enhanced together as indicated by ghe positive association among these two important traits.In this study,high yielding accessions with moderate to high oil content such as GP36,GP31,GP14,GP54,GP26,GP24,GP34,GP21,GP37 and GP27 and early flowering(less than 70 days)accessions such as GP2,GP26,GP27,CG33,CG44,CG42,CG132,and CG31 identified as potential genetic materials that could be exploited for developing early maturing varieties with high yield.In addition,information’s on various genetic parameters will help breeders to devise suitable breeding methodology for linseed genetic improvement for targeted traits.
基金supported by grants from the National Natural Science Foundation of China[No.81872641]Natural Science Foundation of Hunan Province[No.2023JJ40357].
文摘Objective To systematically summarize the published literature on the genetic variants associated with nonalcoholic fatty liver disease(NAFLD).Methods Literature from Web of Science,PubMed,and Embase between January 1980 and September 2022 was systematically searched.Meta-analyses of the genetic variants were conducted using at least five data sources.The epidemiologic credibility of the significant associations was graded using the Venice criteria.Results Based on literature screening,399 eligible studies were included,comprising 381 candidate gene association,16 genome-wide association,and 2 whole-exome sequencing studies.We identified 465 genetic variants in 173 genes in candidate gene association studies,and 25 genetic variants in 17 genes were included in the meta-analysis.The meta-analysis identified 11 variants in 10 genes that were significantly associated with NAFLD,with cumulative epidemiological evidence of an association graded as strong for two variants in two genes(HFE,TNF),moderate for four variants in three genes(TM6SF2,GCKR,and ADIPOQ),and weak for five variants in five genes(MBOAT7,PEMT,PNPLA3,LEPR,and MTHFR).Conclusion This study identified six variants in five genes that had moderate to strong evidence of an association with NAFLD,which may help understand the genetic architecture of NAFLD risk.
文摘Studying on the genetic diversity and genetic relationship of flowering cherry cultivars is extremely important for germplasm conservation, cultivar identification and breeding. Flowering cherry is widely cultivated as an important woody ornamental plant in worldwide, especially Japan, China. However, owning to the morphological similarity, many cultivars are distinguished hardly in non-flowering season. Here, we evaluated the genetic diversity and genetic relationship of 40 flowering cherry cultivars, which are mainly cultivated in China. We selected 13 polymorphicprimers to amplify to allele fragments with fluorescent-labeled capillary electrophoresis technology. The population structure analysis results show that these cultivars could be divided into 4 subpopulations. At the population level, N<sub>a</sub> and N<sub>e</sub> were 6.062, 4.326, respectively. H<sub>o</sub> and H<sub>e</sub> were 0.458 and 0.670, respectively. The Shannon’s information index (I) was 1.417. The Pop3, which originated from P. serrulata, had the highest H<sub>o</sub>, H<sub>e</sub>, and I among the 4 subpopulations. AMOVA showed that only 4% of genetic variation came from populations, the 39% variation came from individuals and 57% (p < 0.05) came from intra-individuals. 5 polymorphic SSR primers were selected to construct molecular ID code system of these cultivars. This analysis on the genetic diversity and relationship of the 40 flowering cherry cultivars will help to insight into the genetic background, relationship of these flowering cherry cultivars and promote to identify similar cultivars.
基金Research and Development Program of Shandong Province,China(Major Science and Technology Innovation Project)under contract No.2021CXGC011306MNR Key Laboratory of Eco-Environmental Science and Technology,China under contract No.MEEST-2021-05+2 种基金Natural Science Foundation of Shandong Province under contract No.ZR2020MD002Doctoral Science Research Foundation of Yantai University under contract Nos SM15B01,SM19B70 and SM19B28Double-Hundred Action of Yantai City under contract No.2320004-SM20RC02。
文摘Caenogastropoda is a highly diverse group,containing~60%of all existing gastropods.Species in this subclass predominantly inhabit marine environments and have a high ecological and economic value.Owing to the increase in relevant phylogenetic studies,our understanding of between species relatedness in Caenogastropoda has improved.However,the biodiversity,taxonomic status,and phylogenetic relationships of this group remain unclear.In the present study,we performed next-generation sequencing of four complete mitochondrial genomes from three families(Buccinidae,Columbellidae,and Cypraeidae)and the four mitogenomes were classical circular structures,with a length of 16177 bp in Volutharpa ampullacea,16244 bp in Mitrella albuginosa,16926bp in Mauritia arabica asiatica and 15422 bp in Erronea errones.Base composition analysis indicated that whole sequences were biased toward A and T.Then compared them with 171 complete mitochondrial genomes of Caenogastropoda.The phylogenetic relationship of Caenogastropoda derived from Maximum Likelihood(ML)and Bayesian Inference(BI)trees constructed based on CDS sequences was consistent with the results of traditional morphological analysis,with all three families showing close relationships.This study supported Caenogastropoda at the molecular level as a separate clade of Mollusca.According to our divergence time estimations,Caenogastropoda was formed during the middle Triassic period(~247.2–237 Ma).Our novel mitochondrial genomes provide evidence for the speciation of Caenogastropoda in addition to elucidating the mitochondrial genomic evolution of this subclass.
文摘Objective:Glucose-6-phosphate isomerase(GPI)deficiency is a rare hereditary nonspherocytic hemolytic anemia caused by GPI gene variants.This disorder exhibits wide heterogeneity in its clinical manifestations and molecular characteristics,often posing challenges for precise diagnoses using conventional methods.To this end,this study aimed to identify the novel variants responsible for GPI deficiency in a Chinese family.Methods:The clinical manifestations of the patient were summarized and analyzed for GPI deficiency phenotype diagnosis.Novel compound heterozygous variants of the GPI gene,c.174C>A(p.Asn58Lys)and c.1538G>T(p.Trp513Leu),were identified using whole-exome and Sanger sequencing.The AlphaFold program and Chimera software were used to analyze the effects of compound heterozygous variants on GPI structure.Results:By characterizing 53 GPI missense/nonsense variants from previous literature and two novel missense variants identified in this study,we found that most variants were located in exons 3,4,12,and 18,with a few localized in exons 8,9,and 14.This study identified novel compound heterozygous variants associated with GPI deficiency.These pathogenic variants disrupt hydrogen bonds formed by highly conserved GPI amino acids.Conclusion:Early family-based sequencing analyses,especially for patients with congenital anemia,can help increase diagnostic accuracy for GPI deficiency,improve child healthcare,and enable genetic counseling.
基金supported by grants from the National Natural Science Foundation of China(32101730)the National Key R&D Program Projects,China(2021YFD1201005)+2 种基金the Beijing Academy of Agriculture and Forestry Sciences(BAAFS)Excellent Scientist Training Program,China(JKZX202202)the BAAFS Science and Technology Innovation Capability Improvement Project,China(KJCX20230433)。
文摘Soil salinization poses a threat to maize production worldwide,but the genetic mechanism of salt tolerance in maize is not well understood.Therefore,identifying the genetic components underlying salt tolerance in maize is of great importance.In the current study,a teosinte-maize BC2F7 population was used to investigate the genetic basis of 21 salt tolerance-related traits.In total,125 QTLs were detected using a high-density genetic bin map,with one to five QTLs explaining 6.05–32.02%of the phenotypic variation for each trait.The total phenotypic variation explained(PVE)by all detected QTLs ranged from 6.84 to 63.88%for each trait.Of all 125 QTLs,only three were major QTLs distributed in two genomic regions on chromosome 6,which were involved in three salt tolerance-related traits.In addition,10 pairs of epistatic QTLs with additive effects were detected for eight traits,explaining 0.9 to 4.44%of the phenotypic variation.Furthermore,18 QTL hotspots affecting 3–7 traits were identified.In one hotspot(L5),a gene cluster consisting of four genes(ZmNSA1,SAG6,ZmCLCg,and ZmHKT1;2)was found,suggesting the involvement of multiple pleiotropic genes.Finally,two important candidate genes,Zm00001d002090 and Zm00001d002391,were found to be associated with salt tolerance-related traits by a combination of linkage and marker-trait association analyses.Zm00001d002090 encodes a calcium-dependent lipid-binding(CaLB domain)family protein,which may function as a Ca^(2+)sensor for transmitting the salt stress signal downstream,while Zm00001d002391 encodes a ubiquitin-specific protease belonging to the C19-related subfamily.Our findings provide valuable insights into the genetic basis of salt tolerance-related traits in maize and a theoretical foundation for breeders to develop enhanced salt-tolerant maize varieties.
基金supported by the earmarked fund for CARS,China(CARS-42)the earmarked fund for Jiangsu Agricultural Industry Technology System,China(JATS(2022)331)the Jiangsu Key Research and Development Program,China(BE2021332)。
文摘The Chinese crested duck is a unique duck breed having a bulbous feather shape on its duck head.However,the mechanisms involved in its formation and development are unclear.In the present study,RNA sequencing analysis was performed on the crested tissues of 6 Chinese crested ducks and the scalp tissues of 6 cherry valley ducks(CVs)from 2 developmental stages.This study identified 261 differentially expressed genes(DEGs),122 upregulated and 139 downregulated,in the E28 stage and 361 DEGs,154 upregulated and 207 downregulated in the D42 stage between CC and CV ducks.The subsequent results of weighted gene co-expression network analysis(WGCNA)revealed that the turquoise and cyan modules were associated with the crest trait in the D42 stage,meanwhile,the green,brown,and pink modules were associated with the crest trait in the E28 stage.Venn analysis of the DEGs and WGCNA showed that 145 and 45 genes are associated between the D42 and E28 stages,respectively.The expression of WNT16,BMP2,SLC35F2,SLC6A15,APOBEC2,ABHD6,TNNC2,MYL1,and TNNI2 were verified by real-time quantitative PCR.This study provides an approach to reveal the molecular mechanisms underlying the crested trait development.
基金National Key R&D Program of China (2019YFD1001301 and 2019YFD1001300)the earmarked fund for CARS-10Sweetpotato and the Hebei Key R&D Program, China (20326320D)。
文摘Sweetpotato, Ipomoea batatas(L.) Lam., is an important food crop worldwide. Large scale evaluation of sweetpotato germplasm for genetic diversity is necessary to determine the genetic relationships between them and effectively use them in the genetic improvement. In this study, the genetic diversity of 617 sweetpotato accessions, including 376landraces and 162 bred varieties from China and 79 introduced varieties from 11 other countries, was assessed using 30 simple sequence repeat(SSR) primer pairs with high polymorphism. Based on the population structure analysis,these sweetpotato accessions were divided into three groups, Group 1, Group 2 and Group 3, which included 228, 136and 253 accessions, respectively. Consistent results were obtained by phylogenic analysis and principal coordinate analysis(PCoA). Of the three groups, Group 2 showed the highest level of genetic diversity and its accessions were mainly distributed in low-latitude regions. The accessions from South China exhibited the highest level of genetic diversity, which supports the hypothesis that Fujian and Guangdong were the first regions where sweetpotato was introduced to China. Analysis of molecular variance(AMOVA) indicated significant genetic differentiations between the different groups, but low levels of genetic differentiation existed between the different origins and accession types.These results provide valuable information for the better utilization of these accessions in sweetpotato breeding.
基金Supported by Hainan Science and Technology Project (No. ZDYF2020229ZDKJ2021010)Scientific Research Program of Hainan Key Laboratory of Vegetable Biology and Hainan Key Laboratory for Quality Regulation of Tropical Horticultural Crops (No. HNZDSYS(YY)-03)。
文摘Exploring genetic mechanism of the first female flower node and the first male flower node in bitter gourd has practical significance for formulating breeding strategy. In this article, a cross was made between CN19-1 and Thai4-6, and the F2segregation population was also constructed through F1selfing. The genetic characteristics of the first female flower node and the first male flower node were analyzed by adopting the major gene plus polygene mixed genetic model. The data analysis results showed that the first female flower node and the first male flower node were continuous distribution in the F2segregation population. E-2 model was the most suitable model for the genetic analysis of the first female flower node and the first male flower node. The additive effect values of the 2 pairs of major genes controlling the first female flower node were 2.722 and 1.862 8 respectively, the dominant effect values were-2.721 6 and-0.171 8, respectively. The additive effect value of polygene was-0.839 2, and the dominant effect value of polygene was 2.225 4. The heritability of major genes and polygene were 83.73% and 1.54%, respectively. The additive effect values of the 2 pairs of major genes controlling the first male flower node were 17.746 9 and 3.972, respectively, the dominant effect values were 5.191 6 and-3.972, respectively. The additive effect value of polygene was-20.530 5, and the dominant effect value was-4.141 4. The heritability of major genes and polygene was 92.34% and 4.7%, respectively. This study could provide a theoretical basis for bitter gourd breeding.
基金This study involving human participants was reviewed and approved by the ethics committee of TEDA International Cardiovascular Hospital,China(No.0715-4,2021,02 August 2021)the National Natural Science Foundation of China[82170353&81870288]+4 种基金the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences[2020-PT310-007]Tianjin Municipal and Binhai New Area Health Commissions[KJ20071&2019BWKY010]Tianjin Science and Technology Project[18PTZWHZ00060]TEDA International Cardiovascular Hospital[2021-TD-006&2021-ZX-002&2019-TD-013]Tianjin Key Medical Discipline(Specialty)Construction Project[TJYXZDXK-019A].
文摘Background:Atrial septal defect(ASD)is one of the common congenital heart diseases.The MYH6 gene has a critical role in cardiac development but the role of MYH6 promoter variants in patients with ASD has not been explored.Methods:In 613 subjects including 320 ASD patients,we investigated the MYH6 gene promoter variants and verified the effect on gene expression by using cellular functional experiments and bioinformatics analysis.Results:Eleven variants were identified in the MYH6 gene promoter,of which four variants were found only in ASD patients,and two variants(g.3434G>C and g.4524C>T)were identified for the first time.Cellular functional experiments indicated that all four variants reduced the transcriptional activity of the MYH6 gene promoter(p<0.05).Subsequent analysis through the JASPAR(A database of transcription factor binding profiles)suggests that these variants may alter transcription factor binding sites,which may in turn lead to changes in myocardin subunit expression and ASD formation.Conclusions:Our study for the first time focuses on variants in the promoter region of the MYH6 gene in Chinese patients with ASD and the discovered variants have functional significance.The study provides new insights in the role of the MYH6 gene promoter region to better understand the genetic basis of ASD formation and facilitates clinical diagnosis.
基金supported by the Notional Natural Science Foundation of China,No.81960417 (to JX)Guangxi Key Research and Development Program,No.GuiKeA B20159027 (to JX)the Natural Science Foundation of Guangxi Zhuang Autonomous Region,No.2022GXNSFBA035545 (to YG)。
文摘Immune changes and inflammatory responses have been identified as central events in the pathological process of spinal co rd injury.They can greatly affect nerve regeneration and functional recovery.However,there is still limited understanding of the peripheral immune inflammato ry response in spinal cord inju ry.In this study.we obtained microRNA expression profiles from the peripheral blood of patients with spinal co rd injury using high-throughput sequencing.We also obtained the mRNA expression profile of spinal cord injury patients from the Gene Expression Omnibus(GEO)database(GSE151371).We identified 54 differentially expressed microRNAs and 1656 diffe rentially expressed genes using bioinformatics approaches.Functional enrichment analysis revealed that various common immune and inflammation-related signaling pathways,such as neutrophil extracellular trap formation pathway,T cell receptor signaling pathway,and nuclear factor-κB signal pathway,we re abnormally activated or inhibited in spinal cord inju ry patient samples.We applied an integrated strategy that combines weighted gene co-expression network analysis,LASSO logistic regression,and SVM-RFE algorithm and identified three biomarke rs associated with spinal cord injury:ANO10,BST1,and ZFP36L2.We verified the expression levels and diagnostic perfo rmance of these three genes in the original training dataset and clinical samples through the receiver operating characteristic curve.Quantitative polymerase chain reaction results showed that ANO20 and BST1 mRNA levels were increased and ZFP36L2 mRNA was decreased in the peripheral blood of spinal cord injury patients.We also constructed a small RNA-mRNA interaction network using Cytoscape.Additionally,we evaluated the proportion of 22 types of immune cells in the peripheral blood of spinal co rd injury patients using the CIBERSORT tool.The proportions of naive B cells,plasma cells,monocytes,and neutrophils were increased while the proportions of memory B cells,CD8^(+)T cells,resting natural killer cells,resting dendritic cells,and eosinophils were markedly decreased in spinal cord injury patients increased compared with healthy subjects,and ANO10,BST1 and ZFP26L2we re closely related to the proportion of certain immune cell types.The findings from this study provide new directions for the development of treatment strategies related to immune inflammation in spinal co rd inju ry and suggest that ANO10,BST2,and ZFP36L2 are potential biomarkers for spinal cord injury.The study was registe red in the Chinese Clinical Trial Registry(registration No.ChiCTR2200066985,December 12,2022).
文摘Background In early adolescence,youth are highly prone to suicidal behaviours.Identifying modifiable risk factors during this critical phase is a priority to inform effective suicide prevention strategies.Aims To explore the risk and protective factors of suicidal behaviours(ie,suicidal ideation,plans and attempts)in early adolescence in China using a social-ecological perspective.Methods Using data from the cross-sectional project‘Healthy and Risky Behaviours Among Middle School Students in Anhui Province,China',stratified random cluster sampling was used to select 5724 middle school students who had completed self-report questionnaires in November 2020.Network analysis was employed to examine the correlates of suicidal ideation,plans and attempts at four levels,namely individual(sex,academic performance,serious physical llness/disability,history of self-harm,depression,impulsivity,sleep problems,resilience),family(family economic status,relationship with mother,relationship with father,family violence,childhood abuse,parental mental illness),school(relationship with teachers,relationship with classmates,school-bullying victimisation and perpetration)and social(social support,satisfaction with society).Results In total,37.9%,19.0%and 5.5%of the students reported suicidal ideation,plans and attempts in the past 6 months,respectively.The estimated network revealed that suicidal ideation,plans and attempts were collectively associated with a history of self-harm,sleep problems,childhood abuse,school bullying and victimisation.Centrality analysis indicated that the most influential nodes in the network were history of self-harm and childhood abuse.Notably,the network also showed unique correlates of suicidal ideation(sex,weight=0.60;impulsivity,weight=0.24;family violence,weight=0.17;relationship with teachers,weight=-0.03;school-bullying perpetration,weight=0.22),suicidal plans(social support,weight=-0.15)and suicidal attempts(relationship with mother,weight=-0.10;parental mental llness,weight=0.61).Conclusions This study identified the correlates of suicidal ideation,plans and attempts,and provided practical implications for suicide prevention for young adolescents in China.Firstly,this study highlighted the importance of joint interventions across multiple departments.Secondly,the common risk factors of suicidal ideation,plans and attempts were elucidated.Thirdly,this study proposed target interventions to address the unique influencing factors of suicidal ideation,plans and attempts.
基金funded by the National Natural Science Foundation of China(42174131)the Strategic Cooperation Technology Projects of CNPC and CUPB(ZLZX2020-03).
文摘In this research,an integrated classification method based on principal component analysis-simulated annealing genetic algorithm-fuzzy cluster means(PCA-SAGA-FCM)was proposed for the unsupervised classification of tight sandstone reservoirs which lack the prior information and core experiments.A variety of evaluation parameters were selected,including lithology characteristic parameters,poro-permeability quality characteristic parameters,engineering quality characteristic parameters,and pore structure characteristic parameters.The PCA was used to reduce the dimension of the evaluation pa-rameters,and the low-dimensional data was used as input.The unsupervised reservoir classification of tight sandstone reservoir was carried out by the SAGA-FCM,the characteristics of reservoir at different categories were analyzed and compared with the lithological profiles.The analysis results of numerical simulation and actual logging data show that:1)compared with FCM algorithm,SAGA-FCM has stronger stability and higher accuracy;2)the proposed method can cluster the reservoir flexibly and effectively according to the degree of membership;3)the results of reservoir integrated classification match well with the lithologic profle,which demonstrates the reliability of the classification method.
基金supported by the National Natural Science Foundation of China,No.U21A20347(to CZ)the National Key Research and Development Program of China,No.2022YFC2704801(to CZ)+1 种基金the Henan Key Laboratory of Population Defects Prevention,No.ZD202103(to YX)the Department of Science and Technology of Henan Province of China,No.212102310221(to YX)。
文摘Ce rebral palsy is a diagnostic term utilized to describe a group of permanent disorders affecting movement and posture.Patients with cerebral palsy are often only capable of limited activity,resulting from non-progressive disturbances in the fetal or neonatal brain.These disturbances severely impact the child’s daily life and impose a substantial economic burden on the family.Although cerebral palsy encompasses various brain injuries leading to similar clinical outcomes,the unde rstanding of its etiological pathways remains incomplete owing to its complexity and heterogeneity.This review aims to summarize the current knowledge on the genetic factors influencing cerebral palsy development.It is now widely acknowledged that genetic mutations and alterations play a pivotal role in cerebral palsy development,which can be further influenced by environmental fa ctors.Des pite continuous research endeavors,the underlying fa ctors contributing to cerebral palsy remain are still elusive.However,significant progress has been made in genetic research that has markedly enhanced our comprehension of the genetic factors underlying cerebral palsy development.Moreove r,these genetic factors have been categorized based on the identified gene mutations in patients through clinical genotyping,including thrombosis,angiogenesis,mitochondrial and oxidative phosphorylation function,neuronal migration,and cellular autophagy.Furthermore,exploring targeted genotypes holds potential for precision treatment.In conclusion,advancements in genetic research have substantially improved our understanding of the genetic causes underlying cerebral palsy.These breakthroughs have the potential to pave the way for new treatments and therapies,consequently shaping the future of cerebral palsy research and its clinical management.The investigation of cerebral palsy genetics holds the potential to significantly advance treatments and management strategies.By elucidating the underlying cellular mechanisms,we can develop to rgeted interventions to optimize outcomes.A continued collaboration between researchers and clinicians is imperative to comprehensively unravel the intricate genetic etiology of cerebral palsy.
基金This research was financially supported by the Natural Science Basic Research Program of Shaanxi,China(2022JM-126)the National Natural Science Foundation of China(52079132).
文摘The replacement of winter wheat varieties has contributed significantly to yield improvement worldwide,with remarkable progress in China.Drawing on two sets of data,production yield from the National Bureau of Statistics of China and experimental yield from literature,this study aims to(1)illustrate the increasing patterns of production yield among different provinces from 1978 to 2018 in China,(2)explore the genetic gain in yield and yield relevant traits through the variety replacement based on experimental yield from 1937 to 2016 in China,and(3)compare the yield gap between experimental yield and production yield.The results show that both the production and experimental yields significantly increased along with the variety replacement.The national annual yield increase ratio for the production yield was 1.67%from 1978 to 2018,varying from 0.96%in Sichuan Province to 2.78%in Hebei Province;such ratio for the experimental yield was 1.13%from 1937 to 2016.The yield gap between experimental and production yields decreased from the 1970s to the 2010s.This study reveals significant increases in some yield components consequent to variety replacement,including thousand-grain weight,kernel number per spike,and grain number per square meter;however,no change is shown in spike number per square meter.The biomass and harvest index consistently and significantly increased,whereas the plant height decreased significantly.
基金European Union-Next Generation EU,Through the National Recovery and Resilience Plan of the Republic of Bulgaria Project,No.BG-RRP-2.004-0008.
文摘Liver cancer,primarily hepatocellular carcinoma,remains a global health challenge with rising incidence and limited therapeutic options.Genetic factors play a pivotal role in the development and progression of liver cancer.This state-of-the-art paper provides a comprehensive review of the current landscape of genetic screening strategies for liver cancer.We discuss the genetic underpinnings of liver cancer,emphasizing the critical role of risk-associated genetic variants,somatic mutations,and epigenetic alterations.We also explore the intricate interplay between environmental factors and genetics,highlighting how genetic screening can aid in risk stratification and early detection via using liquid biopsy,and advancements in high-throughput sequencing technologies.By synthesizing the latest research findings,we aim to provide a comprehensive overview of the state-of-the-art genetic screening methods for liver cancer,shedding light on their potential to revolutionize early detection,risk assessment,and targeted therapies in the fight against this devastating disease.
基金supported by the National Natural Science Foundation of China (31660215)Major Scientific and Technological Projects of Guizhou Province ([2018]5261),China+1 种基金the Construction Project for First-Class Ecology Discipline in Guizhou (GNYL [2017] 007),Chinathe China Scholarship Council ([2021]15)
文摘Larix resources in the Qinghai-Tibet Plateau have important ecological and economic values.However,the lack of genetic diversity background and related research hinders the development of conservation strategies.In this study,genetic diversity and distribution of fi ve Larix species were investigated.Using 19 polymorphic microsatellite markers to study 272 representative individuals from 13 populations,the results show low genetic diversity at the population level,with variation explained mainly by diff erentiation among populations.The Larix populations were classifi ed into two clades,one formed by eight populations,including three of the species in this study,L.kongboensis,L.speciosa,and L.potaninii var.australis.The other clade consists of fi ve populations,including the other two species in this study,L.griffi thii and L.himalaica.Genetic distance of the species was aff ected by geographical isolation and genetic diversity was mainly aff ected by altitude.The area suitable for Larix spp.decreased during the Last Glacial Maximum compared to the current distribution according to the niche model,but should increase in future climate scenarios(2050s),expanding westward along the Himalayas.These results provide an important scientifi c basis for the development of conservation strategies and further the sustainable utilization of Larix resources in the Qinghai-Tibet Plateau.
