Objective Y-Chromosomal short tandem repeat polymorphism(Y-STR)analysis plays an indispensable role in the identification of male individuals,population genetics,and biogeographic research.While profiles of many popul...Objective Y-Chromosomal short tandem repeat polymorphism(Y-STR)analysis plays an indispensable role in the identification of male individuals,population genetics,and biogeographic research.While profiles of many populations based on Y-STR markers in human genomes are ample,haplotype data for the Wuwei Han are still scarce.Methods In this study,2180 unrelated Wuwei Han male individuals residing in Gansu Province,China were collected and genotyped using the novel Microreader™40Y Plus ID system.Phylogenetic relationship reconstructions,multidimensional scaling(MDS),and heatmap analysis were performed based on the genetic distance(Rst)values between our studied population and other populations of the Ymax module in the Y-STR Haplotype Reference Database(YHRD).Results A total of 2129 unique haplotypes were obtained,and the haplotype diversity(HD)and discrimination capacity(DC)for the Wuwei Han were 0.9999 and 0.9931,respectively.Conclusion Our results demonstrate that the Wuwei Han population had intimate genetic relationships with East Asians,especially the geographically close Han populations.Overall,this Y-Chromosomal assay gives valuable information about paternal lineages in male individual tracking and genealogical database construction.展开更多
BACKGROUND The global prevalence of type 2 diabetes mellitus(T2DM)is increasing.T2DM is associated with alterations of the gut microbiota,which can be affected by age,illness,and genetics.Previous studies revealed tha...BACKGROUND The global prevalence of type 2 diabetes mellitus(T2DM)is increasing.T2DM is associated with alterations of the gut microbiota,which can be affected by age,illness,and genetics.Previous studies revealed that there are discriminating microbiota compositions between the Dai and the Han populations.However,the specific gut microbiota differences between the two populations have not been elucidated.AIM To compare the gut microbiota differences in subjects with and without T2DM in the Dai and Han populations.METHODS A total of 35 subjects of the Han population(including 15 healthy children,8 adult healthy controls,and 12 adult T2DM patients)and 32 subjects of the Dai population(including 10 healthy children,10 adult healthy controls,and 12 adult T2DM patients)were enrolled in this study.Fasting venous blood samples were collected from all the subjects for biochemical analysis.Fecal samples were collected from all the subjects for DNA extraction and 16S rRNA sequencing,which was followed by analyses of the gut microbiota composition.RESULTS No significant difference in alpha diversity was observed between healthy children and adults.The diversity of gut microbiota was decreased in T2DM patients compared to the healthy adults in both the Dai and Han populations. There was a significant difference in gut microbiota between healthy children and healthy adults in the Hanpopulation with an increased abundance of Bacteroidetes and decreased Firmicutes in children. However, thisdifference was less in the Dai population. Significant increases in Bacteroidetes in the Han population and Proteobacteriain the Dai population and decreases in Firmicutes in both the Han and Dai population were observed inT2DM patients compared to healthy adults. Linear discriminant analysis Effect Size analysis also showed that thegut microbiota was different between the Han and Dai populations in heathy children, adults, and T2DM patients.Four bacteria were consistently increased and two consistently decreased in the Han population compared to theDai population.CONCLUSION Differences in gut microbiota were found between the Han and Dai populations. A significant increase inBacteroidetes was related to the occurrence of T2DM in the Han population, while a significant increase in Proteobacteriawas related to the occurrence of T2DM in the Dai population.展开更多
Objective: To investigate the correlation between E670 G polymorphism of proprotein convertase subtilisin/kexin type 9(PCSK9) gene and coronary heart disease(CHD), and contrastively study the regional differences of E...Objective: To investigate the correlation between E670 G polymorphism of proprotein convertase subtilisin/kexin type 9(PCSK9) gene and coronary heart disease(CHD), and contrastively study the regional differences of E670 G polymorphism of PCSK9 gene between patients with CHD among the Han population in Hainan and three provinces in the northeast of China(TPNC), providing scientific basis for prevention and treatment of patients with CHD in different regions. Methods: A total of 233 cases of patients with CHD were selected from the Han population in Hainan and TPNC as the experimental group(118 cases from Hainan, 115 cases from TPNC), and 239 cases with non-CHD were selected among the Han population also in the two regions as control group(125 cases from Hainan, 114 cases from TPNC). The triglyceride(TG), total cholesterol(TC), high density lipoprotein cholesterol and low density lipoprotein cholesterol(LDL-C) levels of plasma were tested and PCR-RFLP method was used to test the E670 G polymorphism of PCSK9 gene. The statistical software package SPSS 21.0 was used for the statistical analysis and P<0.05 was considered as statistically significant. Results: The levels of systolic pressure, diastolic blood pressure, fasting blood sugar, TC, TG, and LDL-C of patients in CHD group were significantly higher than those in non-CHD group, while the high density lipoprotein cholesterol level was lower than that in non-CHD group(P<0.05). In CHD group, the frequencies of AG, GG genotypes of PCSK9 gene and G allele were higher than those in non-CHD group(P<0.05), and in CHD group, the frequencies of AG, GG genotypes and G allele of patients both in Hainan and TPNC were higher than those in control group(P<0.05). Among the patients with CHD, the frequencies of GG genotype and G allele of patients in Hainan were lower than those in TPNC(P<0.05), and in CHD group, the levels of TG, TC and LDL-C of GG genotype were higher than those of AA genotype(P<0.05). While in non-CHD group, there were no significant differences between the frequencies of GG genotype and G allele of patients in Hainan and TPNC(P>0.05). Conclusions: There was a close correlation between the E670 G polymorphism of PCSK9 gene and CHD with serum lipid level. Among Han population in Hainan and TPNC, the E670 G polymorphism of PCSK9 gene of patients with CHD exhibited regional differences.展开更多
Two common polymorphisms of the peroxisome proliferator-activated receptor gamma(PPARG) gene, rs1801282 and rs3856806, may be important candidate gene loci affecting the susceptibility to ischemic stroke. This case-co...Two common polymorphisms of the peroxisome proliferator-activated receptor gamma(PPARG) gene, rs1801282 and rs3856806, may be important candidate gene loci affecting the susceptibility to ischemic stroke. This case-control study sought to identify the relationship between these two single-nucleotide polymorphisms and ischemic stroke risk in a northern Chinese Han population. A total of 910 ischemic stroke participants were recruited from the First Hospital of China Medical University, Shenyang, China as a case group, of whom 895 completed the study. The 883 healthy controls were recruited from the Health Check Center of the First Hospital of China Medical University, Shenyang, China. All participants or family members provided informed consent. The study protocol was approved by the Ethics Committee of the First Hospital of China Medical University, China on February 20, 2012(approval No. 2012-38-1). The protocol was registered with the Chinese Clinical Trial Registry(registration number: ChiCTR-COC-17013559). Plasma genomic DNA was extracted from all participants and analyzed for rs1801282 and rs3856806 single nucleotide polymorphisms using a SNaPshot Multiplex sequencing assay. Odds ratios(ORs) and 95% confidence intervals(CIs) were calculated using unconditional logistic regression to estimate the association between ischemic stroke and a particular genotype. Results demonstrated that the G allele frequency of the PPARG gene rs1801282 locus was significantly higher in the case group than in the control group(P < 0.001). Individuals carrying the G allele had a 1.844 fold increased risk of ischemic stroke(OR = 1.844, 95% CI: 1.286–2.645, P < 0.001). Individuals carrying the rs3856806 T allele had a 1.366 fold increased risk of ischemic stroke(OR = 1.366, 95% CI: 1.077–1.733, P = 0.010). The distribution frequencies of the PPARG gene haplotypes rs1801282-rs3856806 in the control and case groups were determined. The frequency of distribution in the G-T haplotype case group was significantly higher than that in the control group. The risk of ischemic stroke increased to 2.953 times in individuals carrying the G-T haplotype(OR = 2.953, 95% CI: 2.082–4.190, P < 0.001). The rs1801282 G allele and rs3856806 T allele had a multiplicative interaction(OR = 3.404, 95% CI: 1.631–7.102, P < 0.001) and additive interaction(RERI = 41.705, 95% CI: 14.586–68.824, AP = 0.860;95% CI: 0.779–0.940;S = 8.170, 95% CI: 3.772–17.697) on ischemic stroke risk, showing a synergistic effect. Of all ischemic stroke cases, 86% were attributed to the interaction of the G allele of rs1801282 and the T allele of rs3856806. The effect of the PPARG rs1801282 G allele on ischemic stroke risk was enhanced in the presence of the rs3856806 T allele(OR = 8.001 vs. 1.844). The effect of the rs3856806 T allele on ischemic stroke risk was also enhanced in the presence of the rs1801282 G allele(OR = 2.546 vs. 1.366). Our results confirmed that the G allele of the PPARG gene rs1801282 locus and the T allele of the rs3856806 locus may be independent risk factors for ischemic stroke in the Han population of northern China, with a synergistic effect between the two alleles.展开更多
This meta-analysis compared the therapeutic effect of cable pin system(CPS) with K-wire tension band(KTB) in the treatment of patella fractures among Chinese Han population. The databases of PubM ed, Cochrane library,...This meta-analysis compared the therapeutic effect of cable pin system(CPS) with K-wire tension band(KTB) in the treatment of patella fractures among Chinese Han population. The databases of PubM ed, Cochrane library, China National Knowledge Infrastructure(CNKI), Chinese Wan Fang and Chinese VIP were searched for studies on CPS versus KTB in the treatment of patella fractures among Chinese Han population. Literatures were screened according to the inclusion and exclusion criteria. The quality of the studies was assessed, and meta-analysis was performed using the Cochrane Collaboration's REVMAN 5.3 software. A total of 932 patients from 15 studies were included in this meta-analysis(426 fractures treated with CPS and 506 fractures treated with KTB). There were significant differences in duration of hospital stay [mean difference(MD)=–1.07; 95% confidence interval(CI): –1.71 to –0.43], fracture healing time(MD=–1.23; 95% CI: –1.68 to –0.77), flexion degree of knee joint at 6 th month after operation(MD=14.82; 95% CI: 10.93 to 18.71), incidence of postoperative complication [risk ratio(RR)=0.16; 95% CI: 0.09 to 0.27] and excellent-good rate of B?stman score(RR=1.09; 95% CI: 1.03 to 1.16) between the CPS group and KTB group, while no significant difference was found in operative time between the two groups(MD=–4.52; 95% CI: –11.70 to 2.67). For the treatment of patella fractures among Chinese Han population, limited evidence suggests that the CPS is more suitable than the KTB when considering the hospital stay, fracture healing time, flexion degree of knee at 6 th month after operation, incidence of postoperative complication and excellent-good rate of B?stman joint score. Due to the limitation of high quality evidence and sample size, more large-scale randomized controlled trials are needed to validate the findings in the future.展开更多
AIM: To identify the contribution of CDKAL1 to the development of diabetic retinopathy(DR) in Chinese population.·METHODS: A case-control study was performed to investigate the genetic association between DR and ...AIM: To identify the contribution of CDKAL1 to the development of diabetic retinopathy(DR) in Chinese population.·METHODS: A case-control study was performed to investigate the genetic association between DR and polymorphic variants of CDKAL1 in Chinese Han population with type 2 diabetes mellitus(T2DM). A welldefined population with T2 DM, consisting of 475 controls and 105 DR patients, was recruited. All subjects were genotyped for the genetic variant(rs10946398) of CDKAL1. Genotyping was performed by i PLEX technology. The association between rs10946398 and T2 DM was assessed by univariate and multivariate logistic regression(MLR) analysis.· RESULTS: There were significant differences in C allele frequencies of rs10946398(CDKAL1) between control and DR groups(45.06% versus 55.00%, P <0.05).The rs10946398 of CDKAL1 was found to be associated with the increased risk of DR among patients with diabetes.·CONCLUSION: Our findings suggest that rs10946398 of CDKAL1 is independently associated with DR in a Chinese Han population.展开更多
The G-protein-coupled purinergic receptor P2Y2(P2RY2) plays an important role in the mechanism of atherosclerosis, which is relevant to ischemic stroke. This retrospective case-control study aimed to assess the relati...The G-protein-coupled purinergic receptor P2Y2(P2RY2) plays an important role in the mechanism of atherosclerosis, which is relevant to ischemic stroke. This retrospective case-control study aimed to assess the relationship between P2RY2 gene polymorphisms and ischemic stroke risk in the northern Han Chinese population. In this study, clinical data and peripheral blood specimens were collected from 378 ischemic stroke patients and 344 controls. The ischemic stroke participants were recruited from the First Affiliated Hospital of China Medical University and the First Affiliated Hospital of Liaoning Medical University. The controls were recruited from the Health Check Center at the First Affiliated Hospital of China Medical University. Ischemic stroke patients were divided into two subgroups according to the Trial of ORG 10172 in Acute Stroke Treatment(TOAST) classification: large-artery atherosclerosis(n = 178) and small-artery occlusion(n = 200) strokes. All subjects were genotyped for three single nucleotide polymorphisms(rs4944831, rs1783596, and rs4944832) in the P2RY2 gene using peripheral venous blood samples. The distribution of the dominant rs4944832 phenotype(GG vs. GA+AA) differed significantly between small-artery occlusion patients and control subjects(odds ratio(OR) = 1.720, 95% confidence interval(CI): 1.203–2.458, P < 0.01). Multivariable logistic regression analysis revealed that the GG genotype of rs4944832 was significantly more prevalent in small-artery occlusion patients than in control subjects(OR = 1.807, 95% CI: 1.215–2.687, P < 0.01). The overall distribution of the haplotype established by rs4944831-rs1783596-rs4944832 was significantly different between ischemic stroke patients and controls(P < 0.01). In ischemic stroke patients, the frequency of the G-C-G haplotype was significantly higher than in control subjects(P = 0.028), whereas the frequency of the T-C-A haplotype was lower than in control subjects(P = 0.047). These results indicate that the G-C-G haplotype of P2RY2 is a susceptibility haplotype for ischemic stroke. In addition, the GG genotype of rs4944832 may be associated with the development of small-artery occlusion in the northern Han Chinese population. The study protocol was approved by the Ethics Committee of the First Affiliated Hospital of China Medical University on February 20, 2012(No. 2012-38-1) and the First Affiliated Hospital of Liaoning Medical University, China, on March 1, 2013(No. 2013-03-1). All participants gave their informed consent. This trial was registered with the ISRCTN Registry(ISRCTN11439124) on October 24, 2018. Protocol version(1.0).展开更多
BACKGROUND: It is of significance for single nucleotide polymorphisms (SNPs), a difference of rank, which exists widely in biology, genetics and other fields. OBJECTIVE: To detect polymorphism sites in exon-4 of p53 g...BACKGROUND: It is of significance for single nucleotide polymorphisms (SNPs), a difference of rank, which exists widely in biology, genetics and other fields. OBJECTIVE: To detect polymorphism sites in exon-4 of p53 gene, promotor of Fas gene and intron-7 of Fas gene of healthy people in Han nationality in Zhejiang province. DESIGN: Simple random sampling. SETTING: Department of Surgery of the 118 Hospital of Chinese PLA. PARTICIPANTS: A total of 80 healthy people in Han nationality were selected from hospitals in Zhejiang province from August 2005 to January 2006. There were 43 males and 37 females aged from 3 to 78 years with the mean age of 39.5 years, and all subjects were consent. DNA which was used in genetic analysis was selected from peripheral venous blood of all subjects and maintained at -20 ℃. METHODS: Polymorphism sites in exon-4 of p53 gene, promotor of Fas gene and intron-7 of Fas gene were detected with directly DNA sequencing technique. MAIN OUTCOME MEASURES: Polymorphism sites in exon-4 of p53 gene, promotor of Fas gene and intron-7 of Fas gene of healthy people in Han nationality in Zhejiang province. RESULTS: A total of 80 samples were involved in the final analysis. SNPs sites were found at the 119th base of exon-4 of p53 gene (the 72nd codon of p53 gene), the 670th base of upper start codon in promotor of Fas gene (Fas-670), and the 995th base of intron-7 of Fas gene, especially SNPs in the 995th base of intron-7 pf Fas gene, i.e. C→A transversion, was a new site. CONCLUSION: One unknown SNPs site is discovered in intron-7 of Fas gene of people in Han nationality in Zhejiang province. This study also proves that the 72nd codon exists in p53 gene and the -670 polymorphism site exists in promotor of Fas gene.展开更多
Background Acute coronary syndrome(ACS) is one of the most common forms of heart diseases.Recent studies have revealed that interleukin(IL)-8 plays a kev role in the development of atherosclerosis plaque and its compl...Background Acute coronary syndrome(ACS) is one of the most common forms of heart diseases.Recent studies have revealed that interleukin(IL)-8 plays a kev role in the development of atherosclerosis plaque and its complications, but the relationship of its common variants with ACS has not been extensively studied.Methods We tested the hypothesis that variants in IL-8-251 A/T was associated with susceptibility to ACS and its recurrence in a Chinese case-control study comprising 675 patients with ACS and 636 control subjects and replicated the investigation in an independent study comprising 360 cases and 360 control subjects. The plasma concentration of IL-8 was measured by enzyme-linked immunosorbent assay.Results IL-8 -251A】T poly-morphism was associated with increased susceptibility to ACS (P=0.004;OR=1.30 CI:1.12-1.53).Replication in the second study yielded similar results.IL-8 -251 A/T may affect the expression of IL-8 by the evidence that augmented IL-8 production revealed in serum of the AMI patients by ELISA. Conclusions IL-8 -251 A/T polymorphism is associated with ACS risk in Chinese Han population and An allele of IL-8- 251A/T may be an independent predictive factor.展开更多
Background The association of E670G polymorphism in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene and serum lipid profiles is inconsistent in dif- ferent ethnic groups.Bai Ku Yao is a special subgroup...Background The association of E670G polymorphism in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene and serum lipid profiles is inconsistent in dif- ferent ethnic groups.Bai Ku Yao is a special subgroup of the Yao minority in China.The present study was undertaken association of PCSK9 E670G polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.Methods A total of 649 subjects of Bai Ku Yao and 646 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples.Genotyping of the PCSK9 E670G polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis,and then confirmed by direct sequencing. Results The levels of serum total cholesterol(TC),high-density lipoprotein cholesterol(HDL-C),low-density lipoprotein cholesterol(LDL-C) and apolipoprotein(Apo) AI were lower in Bai Ku Yao than in Han(P【0.01 for all).The frequency of A and G alleles was 98.00%and 2.00%in Bai Ku Yao,and 95.20%and 4.80%in Han(P【0.01);respectively. The frequency of AA,AG and GG genotypes was 95.99%,4.01%and 0%in Bai Ku Yao,and 91.02%, 8.36%and 0.62%in Han(P【0.01);respectively.There were also significant differences in the genotypic and allelic frequencies between n and the ratio of ApoAI to ApoB in Han Chinese but not in Bai Ku Yao were different between the AA and AG/GG genotypes(P【0.05 for all).The G allele carriers had higher serum HDL-C and higher ApoAI to ApoB ratio than the G allele noncarriers.When serum lipid parameters in Han were analyzed according to sex,the G allele carriers had higher serum HDL and ApoAI levels in males (P【0.05),and lower ApoB level and higher ApoAI to ApoB ratio in females(P【0.05 for all).Multiple linear regression analysis showed that serum HDL-C levels were correlated with genotypes in both ethnic groups(P【0.05 each).Serum lipid parameters were also correlated with sex,age,body massindex,alcohol consumption,cigarette smoking,and blood pressure in both ethnic groups(P【0.05-0.001).Conclusions These results suggest that the PCSK9 E670G polymorphism is mainly associated with some serum lipid parameters in the Han population,both gender show different relations to different serum lipid parameters.The G allele carriers might have higher serum lipid profiles than the G allele noncarriers. ormal LDL-C(≤3.20 mmol/L) and high LDL-C subgroups (】 3.20 mmol/L,P【0.01;respectively) in Bai Ku Yao, and between normal ApoB(≤1.14 g/L) and high ApoB subgroups(】 1.14 g/L,P 【 0.01;respectively) in Han.展开更多
AIM:To explore the association of single nucleotide polymorphisms(SNPs)in the IL33/IL1RL1 gene region with the susceptibility to Behcet’s disease(BD)in a Chinese Han population.METHODS:A total of eight SNPs in the ca...AIM:To explore the association of single nucleotide polymorphisms(SNPs)in the IL33/IL1RL1 gene region with the susceptibility to Behcet’s disease(BD)in a Chinese Han population.METHODS:A total of eight SNPs in the candidate gene region(rs11792633,rs7025417,rs10975519 and rs1048274 in IL33;rs2310220,rs12712142,rs13424006 and rs3821204 in IL1RL1)were genotyped in783 BD patients and 701 healthy controls by the Sequenom Mass Array i PLEX platform.RESULTS:A statistically significant association was observed between IL1RL1 rs12712142 and BD patients.The frequency of IL1RL1 rs12712142 variant allele A was significantly lower in BD patients than that in controls(OR=0.8,95%CI:0.69-0.94,Pc=0.039);the genotype distribution(Pc=0.043)and additive and dominant genetic model analyses(OR=0.8,95%CI:0.69-0.94,Pc=0.040 and OR=0.72,95%CI:0.58-0.88,Pc=0.011)also indicated a strong association between rs12712142 and BD patients.CONCLUSION:This is the first study to reveal the association between IL1RL1 rs12712142 variant allele A and the decreased risk of BD in the Chinese Han population,indicating a protective role of IL1RL1 in the pathogenesis of BD.展开更多
The genetic diversity of the 34 populations of wild rice Oryza meyeriana Baill. distributed in Yunnan Province, China was analyzed using 13 inter-simple sequence repeat (ISSR) markers. A total of 168 bands were amplif...The genetic diversity of the 34 populations of wild rice Oryza meyeriana Baill. distributed in Yunnan Province, China was analyzed using 13 inter-simple sequence repeat (ISSR) markers. A total of 168 bands were amplified, of which 135 polymorphic bands were discovered and the percentage of polymorphic bands (PPB) was 80.36%. A genetic diversity was revealed as Nei's gene diversity (H) = 0.2666 and Shannon information index (I) = 0.4028 at population level. The 34 populations were divided into different groups based on administrative regions, latitude and longitudes, river areas, altitudes of their origins, and their indexes such as Na (number of alleles), Ne (effective number of alleles), H, I and PPB were calculated. Richer genetic diversity was found in the wild rice populations distributed in Simao Prefecture than that in Lingcang Prefecture or Xishuangbanna Prefecture whereas the least genetic diversity was in Baoshan Prefecture or Dehong Prefecture. Rich genetic diversity was also discovered in the wild rice populations originated from higher than 710 m altitude around the middle and lower reaches of the Lancang River belonging to the Pacific Ocean drainage system. The 34 populations could be classified into two groups, one group covered the wild rice distributing in Simao Prefecture only while the other group covered ones in Lingcang, Xishuangbanna and Dehong Prefectures. The issue on how to effectively conserve the wild rice germplasm was discussed.展开更多
Allele frequencies for 15 short tandem repeat (STR) loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA) were obtained from 7,636 unrelated indi...Allele frequencies for 15 short tandem repeat (STR) loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA) were obtained from 7,636 unrelated individ- uals of Chinese Han population living in Qinghai and Chongqing, China. Totally 206 alleles were observed, with the corresponding allele frequencies ranging from 0.0001–0.4982. Chi-square test showed that all of the STR loci agreed with the Hardy-Weinberg equilibrium. We also compared our data with previously pub- lished population data of other ethnics or areas. The results are valuable for human identification and paternity testing in Chinese Han population.展开更多
Associations between "lipid-related" candidate genes,blood lipid concentrations and coronary artery disease(CHD) risk are not clear.We aimed to investigate the effect of three newly identified lipids loci fr...Associations between "lipid-related" candidate genes,blood lipid concentrations and coronary artery disease(CHD) risk are not clear.We aimed to investigate the effect of three newly identified lipids loci from genome-wide association studies on CHD and blood lipid levels in Chinese Han population.The genotypes of SNPs at three newly identified lipid loci and blood lipids concentrations were examined in 1360 CHD patients and 1360 age-and sex-frequency matched controls from an unrelated Chinese Han population.Allele T of rs16996148 occurred less frequently in CHD patients with the odds ratio(OR) being 0.64(95% CI 0.50 to 0.81),after adjusting for conventional risk factors and was associated with a 33% decreased CHD risk(P<0.01) comparing with the major allele G.Individuals with GT genotype had the lowest CHD risk.No associations were found between the polymorphisms of other two loci with CHD risk and all three SNPs had no effect on lipid profile in this population.SNP rs16996148 on chromosome 19p13 is significantly associated with lower risk for CHD in Chinese Han population.However,it remains unresolved why these lipid-related loci had significantly less effects than the correspondingly expected effects on blood lipids levels in this population.展开更多
Objectives The association of methylenetetrahy-drofolate reductase(MTHFR) gene polymorphism and serum lipid profiles is still controversial in diverse ethnics.Bai Ku Yao is an isolated subgroup of the Yao minority in ...Objectives The association of methylenetetrahy-drofolate reductase(MTHFR) gene polymorphism and serum lipid profiles is still controversial in diverse ethnics.Bai Ku Yao is an isolated subgroup of the Yao minority in China. The aim of the present study was to eveluate the association of MTHFR C677Tpolymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.Methods A total of 780 subjects of Bai Ku Yao and 686 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples.Genotyping of the MTHFR C677T was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis,and then confirmed by direct sequencing.Results The levels of serum total cholesterol(TC),high-density lipoprotein cholesterol (HDL-C),low-density lipoprotein cholesterol(LDL-C), apolipoprotein(Apo) AI and ApoB were lower in Bai Ku Yao than in Han(P【0.05-0.001).The frequency of C and T alleles was 77.4%and 22.6%in Bai Ku Yao,and 60.9%and 39.1%in Han(P【0.001);respectively.The frequency of CC,CT and TT genotypes was 58.7%,37.3%and 4.0%in Bai Ku Yao,and 32.6%,56.4%and 11.0%in Han(P【 0.001);respectively.The levels of TC and LDL-C in both ethnic groups were significant differences among the three genotypes(P【0.05-0.01).The T allele carriers had higher serum TC and LDL-C levels than the T allele noncarriers. The levels of ApoB in Han were significant differences among the three genotypes(P【0.05).The T allele carriers had higher serum ApoB levels as compared with the T allele noncarriers. The levels of TC,TG and LDL-C in Bai Ku Yao were correlated with genotypes(P【0.05-0.001),whereas the levels of LDL-C in Han were associated with genotypes(P【 0.001).Serum lipid parameters were also correlated with sex, age,body massindex,alcohol consumption,cigarette smoking, and blood pressure in the both ethnic groups.Conclusions The differences in serum TC,TG,LDL-C and ApoB levels between the two ethnic groups might partly result from different genotypic and allelic frequencies of the MTHFR C677Tor differentMTHFR gene-enviromental interactions.展开更多
Objective To investigate the levels of cardiovascular disease risk factors and their relations to clinical phenotype associated with coronary artery disease(CAD).Methods The subjects were recruited from five independe...Objective To investigate the levels of cardiovascular disease risk factors and their relations to clinical phenotype associated with coronary artery disease(CAD).Methods The subjects were recruited from five independent cardiovascular centers.Coronary angiography was employed to define the CAD with stenosis in each major vessel ≥70% and control with stenosis <10% in every lesion.The classic risk factors including family history,body mass index,smoking habits,hypertension,diabetes mellitus,and serum lipid levels were surveyed according to established criteria.Associations between risk levels and clinical phenotypes were assessed by case control and correlation analysis.Results A total of 762 individuals were collected,including 481 men and 281 women,aged from 17 to 81(mean 60±10) years.The patients with CAD accounted for 55.5% of all participants,and controls 44.5%,respectively.Compared with the pattern in published data,our study showed that mean serum high density lipoprotein cholesterol(HDL-C) level was significantly lower(P<0.001) and triglycerides was significantly higher(P<0.001),while total cholesterol(TC) and low density lipoprotein cholesterol levels were comparative(both P>0.05).The prevalence of low HDL-C(<40 g/L) and hypertriglyceridemia(>150 g/L) were 27.2% and 41.4%,respectively.Mean serum levels of HDL-C and apolipoprotein A1 were significantly higher in female subjects than in male(P<0.001).Lower HDL-C functioned as an independent risk factor for CAD only in men(RR=2.8,95%CI:1.5-4.2,P<0.001),yet increased non-HDL cholesterol combined with diabetes mellitus and obesity seemed to play a key role in the development ofCAD in women.Similarity in risk association with CAD was found for hypertension and TC/HDL ratio in male and female subjects,while family history had no relationship with the presence of CAD.Conclusion It is remarkable that emphasis of intervention in future should be given on the prevalent low serum HDL-C and its strong risk correlation with the presence of CAD in male subjects of Chinese Han population.展开更多
A previous study of European Caucasian patients with sporadic amyotrophic lateral sclerosis demonstrated that a polymorphism in the microtubule-associated protein Tau(MAPT) gene was significantly associated with spora...A previous study of European Caucasian patients with sporadic amyotrophic lateral sclerosis demonstrated that a polymorphism in the microtubule-associated protein Tau(MAPT) gene was significantly associated with sporadic amyotrophic lateral sclerosis pathogenesis.Here,we tested this association in 107 sporadic amyotrophic lateral sclerosis patients and 100 healthy controls from the Chinese Han population.We screened the mutation-susceptible regions of MAPT–the 3′ and 5′ untranslated regions as well as introns 9,10,11,and 12–by direct sequencing,and identified 33 genetic variations.Two of these,105788 A>G in intron 9 and 123972 T>A in intron 11,were not present in the control group.The age of onset in patients with the 105788 A>G and/or the 123972 T>A variant was younger than that in patients without either genetic variation.Moreover,the patients with a genetic variation were more prone to bulbar palsy and breathing difficulties than those with the wild-type genotype.This led to a shorter survival period in patients with a MAPT genetic variant.Our study suggests that the MAPT gene is a potential risk gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population.展开更多
Objectives Phenotypic switching of smooth muscle cells(SMCs) plays a critical role in the pathogenesis of atherosclerotic lesions such as coronary artery disease (CAD).Accumulating evidence demonstrates(hat a cellular...Objectives Phenotypic switching of smooth muscle cells(SMCs) plays a critical role in the pathogenesis of atherosclerotic lesions such as coronary artery disease (CAD).Accumulating evidence demonstrates(hat a cellular repressor of E1A-stimulated genes(CREG) plays a role in the maintenance of the mature phenotype of vascular SMCs. The purpose of the present study was to assess the possible association between CREG and CAD in the Han population of North China.Methods The promoter region of CREG by direct sequencing was conducted in 48 subjects.Then SNP rs2995073 and another 4 tagSNPs(rs4657669,rs3767443, rsl6859185,rs3753921) were selected for the association study.All five selected SNPs were determined in 1161 patients with angiographically proven CAD and 960 controls with normal coronary angiograms to investigate the possible involvement of CREG in CAD.Results Genotype frequencies of the five examined polymorphisms were similarly distributed between CAD group and controls(P】0.05).Further haplotype analysis also found no significant differences in the distributions between CAD group and controls(P】0.05). Conclusions This study did not show an association between common variants of CREG and CAD in the northern Chinese Han population.展开更多
KCNK17 is a member of the acid-sensitive subfamily of tandem pore K+ channels,which are open at all membrane potentials and contribute to cellular resting membrane potential.Recent genome-wide study(GWA)has shown that...KCNK17 is a member of the acid-sensitive subfamily of tandem pore K+ channels,which are open at all membrane potentials and contribute to cellular resting membrane potential.Recent genome-wide study(GWA)has shown that variants within KCNK17 confer genetic susceptibility for increasing ischemic stroke.In an effort to discover additional polymorphism(s),we scrutinized the genetic polymorphisms in the KCNK17.By direct DNA sequencing in 32 individuals,we identified nine sequence variants within the 16kb of whole KCNK17 gene:one in exon1,one in intron and seven in the promoter region.Haplotypes,their frequencies and linkage disequilibrium coefficients(D'),among polymorphisms were estimated.All the polymorphisms in the 5'-flanking region(SNP2-SNP7)being in complete(or nearly complete)association with each other in the promoter region maybe produce synergistic effect to regulate the expression of KCNK17 gene and then have an influence on the pathogenesis of cerebrovascular diseases.The common haplotypes were observed comprising 88.9% of the total haplotypes in the same block.Bioinformatic analysis predicted several potential transcriptional factors binding sites by SNP-95,-134,-596 and-846.However,these binding sites need to be experimentally verified.The information concerning genetic polymorphisms of KCNK17 gene might provide valuable information for future genetic studies of diseases.展开更多
基金supported by grants from the Shaanxi Basic Research Program of Natural Science(No.2021JQ-392)the International Cooperation Project of Shaanxi Province(No.2021KW-47).
文摘Objective Y-Chromosomal short tandem repeat polymorphism(Y-STR)analysis plays an indispensable role in the identification of male individuals,population genetics,and biogeographic research.While profiles of many populations based on Y-STR markers in human genomes are ample,haplotype data for the Wuwei Han are still scarce.Methods In this study,2180 unrelated Wuwei Han male individuals residing in Gansu Province,China were collected and genotyped using the novel Microreader™40Y Plus ID system.Phylogenetic relationship reconstructions,multidimensional scaling(MDS),and heatmap analysis were performed based on the genetic distance(Rst)values between our studied population and other populations of the Ymax module in the Y-STR Haplotype Reference Database(YHRD).Results A total of 2129 unique haplotypes were obtained,and the haplotype diversity(HD)and discrimination capacity(DC)for the Wuwei Han were 0.9999 and 0.9931,respectively.Conclusion Our results demonstrate that the Wuwei Han population had intimate genetic relationships with East Asians,especially the geographically close Han populations.Overall,this Y-Chromosomal assay gives valuable information about paternal lineages in male individual tracking and genealogical database construction.
基金the National Natural Science Foundation of China,No.82160402Special Fund for Training Leading Medical Talents in Yunnan Province,China,No.L-2019022。
文摘BACKGROUND The global prevalence of type 2 diabetes mellitus(T2DM)is increasing.T2DM is associated with alterations of the gut microbiota,which can be affected by age,illness,and genetics.Previous studies revealed that there are discriminating microbiota compositions between the Dai and the Han populations.However,the specific gut microbiota differences between the two populations have not been elucidated.AIM To compare the gut microbiota differences in subjects with and without T2DM in the Dai and Han populations.METHODS A total of 35 subjects of the Han population(including 15 healthy children,8 adult healthy controls,and 12 adult T2DM patients)and 32 subjects of the Dai population(including 10 healthy children,10 adult healthy controls,and 12 adult T2DM patients)were enrolled in this study.Fasting venous blood samples were collected from all the subjects for biochemical analysis.Fecal samples were collected from all the subjects for DNA extraction and 16S rRNA sequencing,which was followed by analyses of the gut microbiota composition.RESULTS No significant difference in alpha diversity was observed between healthy children and adults.The diversity of gut microbiota was decreased in T2DM patients compared to the healthy adults in both the Dai and Han populations. There was a significant difference in gut microbiota between healthy children and healthy adults in the Hanpopulation with an increased abundance of Bacteroidetes and decreased Firmicutes in children. However, thisdifference was less in the Dai population. Significant increases in Bacteroidetes in the Han population and Proteobacteriain the Dai population and decreases in Firmicutes in both the Han and Dai population were observed inT2DM patients compared to healthy adults. Linear discriminant analysis Effect Size analysis also showed that thegut microbiota was different between the Han and Dai populations in heathy children, adults, and T2DM patients.Four bacteria were consistently increased and two consistently decreased in the Han population compared to theDai population.CONCLUSION Differences in gut microbiota were found between the Han and Dai populations. A significant increase inBacteroidetes was related to the occurrence of T2DM in the Han population, while a significant increase in Proteobacteriawas related to the occurrence of T2DM in the Dai population.
基金supported by Hainan Province Family Planning Science and Education Health Project(NO.2013-016)
文摘Objective: To investigate the correlation between E670 G polymorphism of proprotein convertase subtilisin/kexin type 9(PCSK9) gene and coronary heart disease(CHD), and contrastively study the regional differences of E670 G polymorphism of PCSK9 gene between patients with CHD among the Han population in Hainan and three provinces in the northeast of China(TPNC), providing scientific basis for prevention and treatment of patients with CHD in different regions. Methods: A total of 233 cases of patients with CHD were selected from the Han population in Hainan and TPNC as the experimental group(118 cases from Hainan, 115 cases from TPNC), and 239 cases with non-CHD were selected among the Han population also in the two regions as control group(125 cases from Hainan, 114 cases from TPNC). The triglyceride(TG), total cholesterol(TC), high density lipoprotein cholesterol and low density lipoprotein cholesterol(LDL-C) levels of plasma were tested and PCR-RFLP method was used to test the E670 G polymorphism of PCSK9 gene. The statistical software package SPSS 21.0 was used for the statistical analysis and P<0.05 was considered as statistically significant. Results: The levels of systolic pressure, diastolic blood pressure, fasting blood sugar, TC, TG, and LDL-C of patients in CHD group were significantly higher than those in non-CHD group, while the high density lipoprotein cholesterol level was lower than that in non-CHD group(P<0.05). In CHD group, the frequencies of AG, GG genotypes of PCSK9 gene and G allele were higher than those in non-CHD group(P<0.05), and in CHD group, the frequencies of AG, GG genotypes and G allele of patients both in Hainan and TPNC were higher than those in control group(P<0.05). Among the patients with CHD, the frequencies of GG genotype and G allele of patients in Hainan were lower than those in TPNC(P<0.05), and in CHD group, the levels of TG, TC and LDL-C of GG genotype were higher than those of AA genotype(P<0.05). While in non-CHD group, there were no significant differences between the frequencies of GG genotype and G allele of patients in Hainan and TPNC(P>0.05). Conclusions: There was a close correlation between the E670 G polymorphism of PCSK9 gene and CHD with serum lipid level. Among Han population in Hainan and TPNC, the E670 G polymorphism of PCSK9 gene of patients with CHD exhibited regional differences.
基金supported by the National Natural Science Foundation of China,No.81070913(to ZYH)
文摘Two common polymorphisms of the peroxisome proliferator-activated receptor gamma(PPARG) gene, rs1801282 and rs3856806, may be important candidate gene loci affecting the susceptibility to ischemic stroke. This case-control study sought to identify the relationship between these two single-nucleotide polymorphisms and ischemic stroke risk in a northern Chinese Han population. A total of 910 ischemic stroke participants were recruited from the First Hospital of China Medical University, Shenyang, China as a case group, of whom 895 completed the study. The 883 healthy controls were recruited from the Health Check Center of the First Hospital of China Medical University, Shenyang, China. All participants or family members provided informed consent. The study protocol was approved by the Ethics Committee of the First Hospital of China Medical University, China on February 20, 2012(approval No. 2012-38-1). The protocol was registered with the Chinese Clinical Trial Registry(registration number: ChiCTR-COC-17013559). Plasma genomic DNA was extracted from all participants and analyzed for rs1801282 and rs3856806 single nucleotide polymorphisms using a SNaPshot Multiplex sequencing assay. Odds ratios(ORs) and 95% confidence intervals(CIs) were calculated using unconditional logistic regression to estimate the association between ischemic stroke and a particular genotype. Results demonstrated that the G allele frequency of the PPARG gene rs1801282 locus was significantly higher in the case group than in the control group(P < 0.001). Individuals carrying the G allele had a 1.844 fold increased risk of ischemic stroke(OR = 1.844, 95% CI: 1.286–2.645, P < 0.001). Individuals carrying the rs3856806 T allele had a 1.366 fold increased risk of ischemic stroke(OR = 1.366, 95% CI: 1.077–1.733, P = 0.010). The distribution frequencies of the PPARG gene haplotypes rs1801282-rs3856806 in the control and case groups were determined. The frequency of distribution in the G-T haplotype case group was significantly higher than that in the control group. The risk of ischemic stroke increased to 2.953 times in individuals carrying the G-T haplotype(OR = 2.953, 95% CI: 2.082–4.190, P < 0.001). The rs1801282 G allele and rs3856806 T allele had a multiplicative interaction(OR = 3.404, 95% CI: 1.631–7.102, P < 0.001) and additive interaction(RERI = 41.705, 95% CI: 14.586–68.824, AP = 0.860;95% CI: 0.779–0.940;S = 8.170, 95% CI: 3.772–17.697) on ischemic stroke risk, showing a synergistic effect. Of all ischemic stroke cases, 86% were attributed to the interaction of the G allele of rs1801282 and the T allele of rs3856806. The effect of the PPARG rs1801282 G allele on ischemic stroke risk was enhanced in the presence of the rs3856806 T allele(OR = 8.001 vs. 1.844). The effect of the rs3856806 T allele on ischemic stroke risk was also enhanced in the presence of the rs1801282 G allele(OR = 2.546 vs. 1.366). Our results confirmed that the G allele of the PPARG gene rs1801282 locus and the T allele of the rs3856806 locus may be independent risk factors for ischemic stroke in the Han population of northern China, with a synergistic effect between the two alleles.
文摘This meta-analysis compared the therapeutic effect of cable pin system(CPS) with K-wire tension band(KTB) in the treatment of patella fractures among Chinese Han population. The databases of PubM ed, Cochrane library, China National Knowledge Infrastructure(CNKI), Chinese Wan Fang and Chinese VIP were searched for studies on CPS versus KTB in the treatment of patella fractures among Chinese Han population. Literatures were screened according to the inclusion and exclusion criteria. The quality of the studies was assessed, and meta-analysis was performed using the Cochrane Collaboration's REVMAN 5.3 software. A total of 932 patients from 15 studies were included in this meta-analysis(426 fractures treated with CPS and 506 fractures treated with KTB). There were significant differences in duration of hospital stay [mean difference(MD)=–1.07; 95% confidence interval(CI): –1.71 to –0.43], fracture healing time(MD=–1.23; 95% CI: –1.68 to –0.77), flexion degree of knee joint at 6 th month after operation(MD=14.82; 95% CI: 10.93 to 18.71), incidence of postoperative complication [risk ratio(RR)=0.16; 95% CI: 0.09 to 0.27] and excellent-good rate of B?stman score(RR=1.09; 95% CI: 1.03 to 1.16) between the CPS group and KTB group, while no significant difference was found in operative time between the two groups(MD=–4.52; 95% CI: –11.70 to 2.67). For the treatment of patella fractures among Chinese Han population, limited evidence suggests that the CPS is more suitable than the KTB when considering the hospital stay, fracture healing time, flexion degree of knee at 6 th month after operation, incidence of postoperative complication and excellent-good rate of B?stman joint score. Due to the limitation of high quality evidence and sample size, more large-scale randomized controlled trials are needed to validate the findings in the future.
基金Supported by National Natural Science Foundation of China(No.81270903)Science and Technology Commission of Shanghai Municipality(No.13140901600)
文摘AIM: To identify the contribution of CDKAL1 to the development of diabetic retinopathy(DR) in Chinese population.·METHODS: A case-control study was performed to investigate the genetic association between DR and polymorphic variants of CDKAL1 in Chinese Han population with type 2 diabetes mellitus(T2DM). A welldefined population with T2 DM, consisting of 475 controls and 105 DR patients, was recruited. All subjects were genotyped for the genetic variant(rs10946398) of CDKAL1. Genotyping was performed by i PLEX technology. The association between rs10946398 and T2 DM was assessed by univariate and multivariate logistic regression(MLR) analysis.· RESULTS: There were significant differences in C allele frequencies of rs10946398(CDKAL1) between control and DR groups(45.06% versus 55.00%, P <0.05).The rs10946398 of CDKAL1 was found to be associated with the increased risk of DR among patients with diabetes.·CONCLUSION: Our findings suggest that rs10946398 of CDKAL1 is independently associated with DR in a Chinese Han population.
基金supported by the National Natural Science Foundation of China,No.81070913(to ZYH)
文摘The G-protein-coupled purinergic receptor P2Y2(P2RY2) plays an important role in the mechanism of atherosclerosis, which is relevant to ischemic stroke. This retrospective case-control study aimed to assess the relationship between P2RY2 gene polymorphisms and ischemic stroke risk in the northern Han Chinese population. In this study, clinical data and peripheral blood specimens were collected from 378 ischemic stroke patients and 344 controls. The ischemic stroke participants were recruited from the First Affiliated Hospital of China Medical University and the First Affiliated Hospital of Liaoning Medical University. The controls were recruited from the Health Check Center at the First Affiliated Hospital of China Medical University. Ischemic stroke patients were divided into two subgroups according to the Trial of ORG 10172 in Acute Stroke Treatment(TOAST) classification: large-artery atherosclerosis(n = 178) and small-artery occlusion(n = 200) strokes. All subjects were genotyped for three single nucleotide polymorphisms(rs4944831, rs1783596, and rs4944832) in the P2RY2 gene using peripheral venous blood samples. The distribution of the dominant rs4944832 phenotype(GG vs. GA+AA) differed significantly between small-artery occlusion patients and control subjects(odds ratio(OR) = 1.720, 95% confidence interval(CI): 1.203–2.458, P < 0.01). Multivariable logistic regression analysis revealed that the GG genotype of rs4944832 was significantly more prevalent in small-artery occlusion patients than in control subjects(OR = 1.807, 95% CI: 1.215–2.687, P < 0.01). The overall distribution of the haplotype established by rs4944831-rs1783596-rs4944832 was significantly different between ischemic stroke patients and controls(P < 0.01). In ischemic stroke patients, the frequency of the G-C-G haplotype was significantly higher than in control subjects(P = 0.028), whereas the frequency of the T-C-A haplotype was lower than in control subjects(P = 0.047). These results indicate that the G-C-G haplotype of P2RY2 is a susceptibility haplotype for ischemic stroke. In addition, the GG genotype of rs4944832 may be associated with the development of small-artery occlusion in the northern Han Chinese population. The study protocol was approved by the Ethics Committee of the First Affiliated Hospital of China Medical University on February 20, 2012(No. 2012-38-1) and the First Affiliated Hospital of Liaoning Medical University, China, on March 1, 2013(No. 2013-03-1). All participants gave their informed consent. This trial was registered with the ISRCTN Registry(ISRCTN11439124) on October 24, 2018. Protocol version(1.0).
文摘BACKGROUND: It is of significance for single nucleotide polymorphisms (SNPs), a difference of rank, which exists widely in biology, genetics and other fields. OBJECTIVE: To detect polymorphism sites in exon-4 of p53 gene, promotor of Fas gene and intron-7 of Fas gene of healthy people in Han nationality in Zhejiang province. DESIGN: Simple random sampling. SETTING: Department of Surgery of the 118 Hospital of Chinese PLA. PARTICIPANTS: A total of 80 healthy people in Han nationality were selected from hospitals in Zhejiang province from August 2005 to January 2006. There were 43 males and 37 females aged from 3 to 78 years with the mean age of 39.5 years, and all subjects were consent. DNA which was used in genetic analysis was selected from peripheral venous blood of all subjects and maintained at -20 ℃. METHODS: Polymorphism sites in exon-4 of p53 gene, promotor of Fas gene and intron-7 of Fas gene were detected with directly DNA sequencing technique. MAIN OUTCOME MEASURES: Polymorphism sites in exon-4 of p53 gene, promotor of Fas gene and intron-7 of Fas gene of healthy people in Han nationality in Zhejiang province. RESULTS: A total of 80 samples were involved in the final analysis. SNPs sites were found at the 119th base of exon-4 of p53 gene (the 72nd codon of p53 gene), the 670th base of upper start codon in promotor of Fas gene (Fas-670), and the 995th base of intron-7 of Fas gene, especially SNPs in the 995th base of intron-7 pf Fas gene, i.e. C→A transversion, was a new site. CONCLUSION: One unknown SNPs site is discovered in intron-7 of Fas gene of people in Han nationality in Zhejiang province. This study also proves that the 72nd codon exists in p53 gene and the -670 polymorphism site exists in promotor of Fas gene.
文摘Background Acute coronary syndrome(ACS) is one of the most common forms of heart diseases.Recent studies have revealed that interleukin(IL)-8 plays a kev role in the development of atherosclerosis plaque and its complications, but the relationship of its common variants with ACS has not been extensively studied.Methods We tested the hypothesis that variants in IL-8-251 A/T was associated with susceptibility to ACS and its recurrence in a Chinese case-control study comprising 675 patients with ACS and 636 control subjects and replicated the investigation in an independent study comprising 360 cases and 360 control subjects. The plasma concentration of IL-8 was measured by enzyme-linked immunosorbent assay.Results IL-8 -251A】T poly-morphism was associated with increased susceptibility to ACS (P=0.004;OR=1.30 CI:1.12-1.53).Replication in the second study yielded similar results.IL-8 -251 A/T may affect the expression of IL-8 by the evidence that augmented IL-8 production revealed in serum of the AMI patients by ELISA. Conclusions IL-8 -251 A/T polymorphism is associated with ACS risk in Chinese Han population and An allele of IL-8- 251A/T may be an independent predictive factor.
文摘Background The association of E670G polymorphism in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene and serum lipid profiles is inconsistent in dif- ferent ethnic groups.Bai Ku Yao is a special subgroup of the Yao minority in China.The present study was undertaken association of PCSK9 E670G polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.Methods A total of 649 subjects of Bai Ku Yao and 646 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples.Genotyping of the PCSK9 E670G polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis,and then confirmed by direct sequencing. Results The levels of serum total cholesterol(TC),high-density lipoprotein cholesterol(HDL-C),low-density lipoprotein cholesterol(LDL-C) and apolipoprotein(Apo) AI were lower in Bai Ku Yao than in Han(P【0.01 for all).The frequency of A and G alleles was 98.00%and 2.00%in Bai Ku Yao,and 95.20%and 4.80%in Han(P【0.01);respectively. The frequency of AA,AG and GG genotypes was 95.99%,4.01%and 0%in Bai Ku Yao,and 91.02%, 8.36%and 0.62%in Han(P【0.01);respectively.There were also significant differences in the genotypic and allelic frequencies between n and the ratio of ApoAI to ApoB in Han Chinese but not in Bai Ku Yao were different between the AA and AG/GG genotypes(P【0.05 for all).The G allele carriers had higher serum HDL-C and higher ApoAI to ApoB ratio than the G allele noncarriers.When serum lipid parameters in Han were analyzed according to sex,the G allele carriers had higher serum HDL and ApoAI levels in males (P【0.05),and lower ApoB level and higher ApoAI to ApoB ratio in females(P【0.05 for all).Multiple linear regression analysis showed that serum HDL-C levels were correlated with genotypes in both ethnic groups(P【0.05 each).Serum lipid parameters were also correlated with sex,age,body massindex,alcohol consumption,cigarette smoking,and blood pressure in both ethnic groups(P【0.05-0.001).Conclusions These results suggest that the PCSK9 E670G polymorphism is mainly associated with some serum lipid parameters in the Han population,both gender show different relations to different serum lipid parameters.The G allele carriers might have higher serum lipid profiles than the G allele noncarriers. ormal LDL-C(≤3.20 mmol/L) and high LDL-C subgroups (】 3.20 mmol/L,P【0.01;respectively) in Bai Ku Yao, and between normal ApoB(≤1.14 g/L) and high ApoB subgroups(】 1.14 g/L,P 【 0.01;respectively) in Han.
基金the National Natural Science Foundation of China (No.81770917)。
文摘AIM:To explore the association of single nucleotide polymorphisms(SNPs)in the IL33/IL1RL1 gene region with the susceptibility to Behcet’s disease(BD)in a Chinese Han population.METHODS:A total of eight SNPs in the candidate gene region(rs11792633,rs7025417,rs10975519 and rs1048274 in IL33;rs2310220,rs12712142,rs13424006 and rs3821204 in IL1RL1)were genotyped in783 BD patients and 701 healthy controls by the Sequenom Mass Array i PLEX platform.RESULTS:A statistically significant association was observed between IL1RL1 rs12712142 and BD patients.The frequency of IL1RL1 rs12712142 variant allele A was significantly lower in BD patients than that in controls(OR=0.8,95%CI:0.69-0.94,Pc=0.039);the genotype distribution(Pc=0.043)and additive and dominant genetic model analyses(OR=0.8,95%CI:0.69-0.94,Pc=0.040 and OR=0.72,95%CI:0.58-0.88,Pc=0.011)also indicated a strong association between rs12712142 and BD patients.CONCLUSION:This is the first study to reveal the association between IL1RL1 rs12712142 variant allele A and the decreased risk of BD in the Chinese Han population,indicating a protective role of IL1RL1 in the pathogenesis of BD.
基金This work was supported by the National Natural Science Foundation of China(Grant No.30460065)Yunnan Provincial Foundation for Science.
文摘The genetic diversity of the 34 populations of wild rice Oryza meyeriana Baill. distributed in Yunnan Province, China was analyzed using 13 inter-simple sequence repeat (ISSR) markers. A total of 168 bands were amplified, of which 135 polymorphic bands were discovered and the percentage of polymorphic bands (PPB) was 80.36%. A genetic diversity was revealed as Nei's gene diversity (H) = 0.2666 and Shannon information index (I) = 0.4028 at population level. The 34 populations were divided into different groups based on administrative regions, latitude and longitudes, river areas, altitudes of their origins, and their indexes such as Na (number of alleles), Ne (effective number of alleles), H, I and PPB were calculated. Richer genetic diversity was found in the wild rice populations distributed in Simao Prefecture than that in Lingcang Prefecture or Xishuangbanna Prefecture whereas the least genetic diversity was in Baoshan Prefecture or Dehong Prefecture. Rich genetic diversity was also discovered in the wild rice populations originated from higher than 710 m altitude around the middle and lower reaches of the Lancang River belonging to the Pacific Ocean drainage system. The 34 populations could be classified into two groups, one group covered the wild rice distributing in Simao Prefecture only while the other group covered ones in Lingcang, Xishuangbanna and Dehong Prefectures. The issue on how to effectively conserve the wild rice germplasm was discussed.
文摘Allele frequencies for 15 short tandem repeat (STR) loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA) were obtained from 7,636 unrelated individ- uals of Chinese Han population living in Qinghai and Chongqing, China. Totally 206 alleles were observed, with the corresponding allele frequencies ranging from 0.0001–0.4982. Chi-square test showed that all of the STR loci agreed with the Hardy-Weinberg equilibrium. We also compared our data with previously pub- lished population data of other ethnics or areas. The results are valuable for human identification and paternity testing in Chinese Han population.
基金supported by grants from the National Natural Sciences Foundation of China (No. 30525031 and No.30430590)
文摘Associations between "lipid-related" candidate genes,blood lipid concentrations and coronary artery disease(CHD) risk are not clear.We aimed to investigate the effect of three newly identified lipids loci from genome-wide association studies on CHD and blood lipid levels in Chinese Han population.The genotypes of SNPs at three newly identified lipid loci and blood lipids concentrations were examined in 1360 CHD patients and 1360 age-and sex-frequency matched controls from an unrelated Chinese Han population.Allele T of rs16996148 occurred less frequently in CHD patients with the odds ratio(OR) being 0.64(95% CI 0.50 to 0.81),after adjusting for conventional risk factors and was associated with a 33% decreased CHD risk(P<0.01) comparing with the major allele G.Individuals with GT genotype had the lowest CHD risk.No associations were found between the polymorphisms of other two loci with CHD risk and all three SNPs had no effect on lipid profile in this population.SNP rs16996148 on chromosome 19p13 is significantly associated with lower risk for CHD in Chinese Han population.However,it remains unresolved why these lipid-related loci had significantly less effects than the correspondingly expected effects on blood lipids levels in this population.
文摘Objectives The association of methylenetetrahy-drofolate reductase(MTHFR) gene polymorphism and serum lipid profiles is still controversial in diverse ethnics.Bai Ku Yao is an isolated subgroup of the Yao minority in China. The aim of the present study was to eveluate the association of MTHFR C677Tpolymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.Methods A total of 780 subjects of Bai Ku Yao and 686 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples.Genotyping of the MTHFR C677T was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis,and then confirmed by direct sequencing.Results The levels of serum total cholesterol(TC),high-density lipoprotein cholesterol (HDL-C),low-density lipoprotein cholesterol(LDL-C), apolipoprotein(Apo) AI and ApoB were lower in Bai Ku Yao than in Han(P【0.05-0.001).The frequency of C and T alleles was 77.4%and 22.6%in Bai Ku Yao,and 60.9%and 39.1%in Han(P【0.001);respectively.The frequency of CC,CT and TT genotypes was 58.7%,37.3%and 4.0%in Bai Ku Yao,and 32.6%,56.4%and 11.0%in Han(P【 0.001);respectively.The levels of TC and LDL-C in both ethnic groups were significant differences among the three genotypes(P【0.05-0.01).The T allele carriers had higher serum TC and LDL-C levels than the T allele noncarriers. The levels of ApoB in Han were significant differences among the three genotypes(P【0.05).The T allele carriers had higher serum ApoB levels as compared with the T allele noncarriers. The levels of TC,TG and LDL-C in Bai Ku Yao were correlated with genotypes(P【0.05-0.001),whereas the levels of LDL-C in Han were associated with genotypes(P【 0.001).Serum lipid parameters were also correlated with sex, age,body massindex,alcohol consumption,cigarette smoking, and blood pressure in the both ethnic groups.Conclusions The differences in serum TC,TG,LDL-C and ApoB levels between the two ethnic groups might partly result from different genotypic and allelic frequencies of the MTHFR C677Tor differentMTHFR gene-enviromental interactions.
基金Supported by a grant from Desert Foundation (2003),Salt Lake City,USA
文摘Objective To investigate the levels of cardiovascular disease risk factors and their relations to clinical phenotype associated with coronary artery disease(CAD).Methods The subjects were recruited from five independent cardiovascular centers.Coronary angiography was employed to define the CAD with stenosis in each major vessel ≥70% and control with stenosis <10% in every lesion.The classic risk factors including family history,body mass index,smoking habits,hypertension,diabetes mellitus,and serum lipid levels were surveyed according to established criteria.Associations between risk levels and clinical phenotypes were assessed by case control and correlation analysis.Results A total of 762 individuals were collected,including 481 men and 281 women,aged from 17 to 81(mean 60±10) years.The patients with CAD accounted for 55.5% of all participants,and controls 44.5%,respectively.Compared with the pattern in published data,our study showed that mean serum high density lipoprotein cholesterol(HDL-C) level was significantly lower(P<0.001) and triglycerides was significantly higher(P<0.001),while total cholesterol(TC) and low density lipoprotein cholesterol levels were comparative(both P>0.05).The prevalence of low HDL-C(<40 g/L) and hypertriglyceridemia(>150 g/L) were 27.2% and 41.4%,respectively.Mean serum levels of HDL-C and apolipoprotein A1 were significantly higher in female subjects than in male(P<0.001).Lower HDL-C functioned as an independent risk factor for CAD only in men(RR=2.8,95%CI:1.5-4.2,P<0.001),yet increased non-HDL cholesterol combined with diabetes mellitus and obesity seemed to play a key role in the development ofCAD in women.Similarity in risk association with CAD was found for hypertension and TC/HDL ratio in male and female subjects,while family history had no relationship with the presence of CAD.Conclusion It is remarkable that emphasis of intervention in future should be given on the prevalent low serum HDL-C and its strong risk correlation with the presence of CAD in male subjects of Chinese Han population.
基金funded by the National Natural Science Foundation of China,No.30560042 and 81260194Jiangxi Provincial Health Bureau of Science and Technology Program,No.20111028
文摘A previous study of European Caucasian patients with sporadic amyotrophic lateral sclerosis demonstrated that a polymorphism in the microtubule-associated protein Tau(MAPT) gene was significantly associated with sporadic amyotrophic lateral sclerosis pathogenesis.Here,we tested this association in 107 sporadic amyotrophic lateral sclerosis patients and 100 healthy controls from the Chinese Han population.We screened the mutation-susceptible regions of MAPT–the 3′ and 5′ untranslated regions as well as introns 9,10,11,and 12–by direct sequencing,and identified 33 genetic variations.Two of these,105788 A>G in intron 9 and 123972 T>A in intron 11,were not present in the control group.The age of onset in patients with the 105788 A>G and/or the 123972 T>A variant was younger than that in patients without either genetic variation.Moreover,the patients with a genetic variation were more prone to bulbar palsy and breathing difficulties than those with the wild-type genotype.This led to a shorter survival period in patients with a MAPT genetic variant.Our study suggests that the MAPT gene is a potential risk gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population.
文摘Objectives Phenotypic switching of smooth muscle cells(SMCs) plays a critical role in the pathogenesis of atherosclerotic lesions such as coronary artery disease (CAD).Accumulating evidence demonstrates(hat a cellular repressor of E1A-stimulated genes(CREG) plays a role in the maintenance of the mature phenotype of vascular SMCs. The purpose of the present study was to assess the possible association between CREG and CAD in the Han population of North China.Methods The promoter region of CREG by direct sequencing was conducted in 48 subjects.Then SNP rs2995073 and another 4 tagSNPs(rs4657669,rs3767443, rsl6859185,rs3753921) were selected for the association study.All five selected SNPs were determined in 1161 patients with angiographically proven CAD and 960 controls with normal coronary angiograms to investigate the possible involvement of CREG in CAD.Results Genotype frequencies of the five examined polymorphisms were similarly distributed between CAD group and controls(P】0.05).Further haplotype analysis also found no significant differences in the distributions between CAD group and controls(P】0.05). Conclusions This study did not show an association between common variants of CREG and CAD in the northern Chinese Han population.
基金supported by grants from National Nature Science Foundation Committee of China(No.30600187,No.30770751)
文摘KCNK17 is a member of the acid-sensitive subfamily of tandem pore K+ channels,which are open at all membrane potentials and contribute to cellular resting membrane potential.Recent genome-wide study(GWA)has shown that variants within KCNK17 confer genetic susceptibility for increasing ischemic stroke.In an effort to discover additional polymorphism(s),we scrutinized the genetic polymorphisms in the KCNK17.By direct DNA sequencing in 32 individuals,we identified nine sequence variants within the 16kb of whole KCNK17 gene:one in exon1,one in intron and seven in the promoter region.Haplotypes,their frequencies and linkage disequilibrium coefficients(D'),among polymorphisms were estimated.All the polymorphisms in the 5'-flanking region(SNP2-SNP7)being in complete(or nearly complete)association with each other in the promoter region maybe produce synergistic effect to regulate the expression of KCNK17 gene and then have an influence on the pathogenesis of cerebrovascular diseases.The common haplotypes were observed comprising 88.9% of the total haplotypes in the same block.Bioinformatic analysis predicted several potential transcriptional factors binding sites by SNP-95,-134,-596 and-846.However,these binding sites need to be experimentally verified.The information concerning genetic polymorphisms of KCNK17 gene might provide valuable information for future genetic studies of diseases.
