Objective:To analyze the genotype and allele distribution characteristics of GPⅢa PLA2(rs5918),PEAR1(rs12041331),and PTGS1(rs10306114)genes related to the antiplatelet pharmacological effects of aspirin,providing ref...Objective:To analyze the genotype and allele distribution characteristics of GPⅢa PLA2(rs5918),PEAR1(rs12041331),and PTGS1(rs10306114)genes related to the antiplatelet pharmacological effects of aspirin,providing reference for individualized treatment of Chinese Han NSTEMI patients.Methods:A total of 107 Han patients with NSTEMI in Beijing Luhe Hospital affiliated to Capital Medical University from January 2016 to December 2022 were selected as the research subjects.The genotypes of GPⅢa PLA2(rs5918),PEAR1(rs12041331)and PTGS1(rs10306114)were detected by fluorescence staining in situ hybridization.The frequency distribution and allele distribution of genotype were analyzed.The results were analyzed whether there were statistical differences in the distribution of related alleles between the Han NSTEMI population and some populations in the 1000 Genomes database.Results:In the Han NSTEMI population,the genotype frequencies of GPⅢa PLA2(rs5918)locus were TT 97.20%,TC 2.80%and CC 0%,the allele frequencies were T 98.60%and C 1.40%.The genotype frequencies of PEAR1(rs12041331)locus were GG 42.06%,GA 44.86%and AA 13.08%,the allele frequencies were G 64.49%and A 35.51%.The genotypes at the PTGS1(rs10306114)locus were all AA(100%),no AG or GG genotype was found.Conclusion:In the NSTEMI population of Han nationality,the mutation at GPⅢa PLA2(rs5918)site related to aspirin antiplatelet pharmacology is rare,and there is no mutation at PTGS1(rs10306114)site.Wild homozygotes are dominant in these two gene loci,while mutations in PEAR1(rs12041331)are more common.Some of the findings in this study are similar to those in previous reports or other populations included in the relevant database;however,some results differ from previous reports or other populations。展开更多
BACKGROUND Genetic factors play an important role in the pathogenesis of panic disorder(PD).However,the effect of genetic variants on PD remains controversial.AIM To evaluate the associations between glutamate decarbo...BACKGROUND Genetic factors play an important role in the pathogenesis of panic disorder(PD).However,the effect of genetic variants on PD remains controversial.AIM To evaluate the associations between glutamate decarboxylase 1(GAD1)gene polymorphisms and PD risk and assess the effect of GAD1 gene polymorphisms on the severity of clinical symptoms in PD.METHODS We recruited 230 PD patients and 224 healthy controls in this study.All participants were assessed for anxiety and panic symptom severity using the Hamilton Anxiety Rating Scale(HAM-A)and Panic Disorder Severity Scale(PDSS).GAD1 gene polymorphisms(rs1978340 and rs3749034)were genotyped and assessed for allele frequencies.RESULTS There were no significant differences between cases and controls in the genotype distributions or allele frequencies of GAD1(rs1978340 and rs3749034).In addition,the effect of GAD1(rs1978340 and rs3749034)on PD severity was not significant.However,regarding respiratory symptoms,patients with the GAD1 rs1978340 A/A genotype had significantly higher scores than those with the A/G or G/G genotype.CONCLUSION Here,we showed that the A/A genotype of GAD1 rs1978340 was associated with increased severity of respiratory symptoms in patients with PD.展开更多
AIM: To investigate the effects of interleukin-8 (IL-8 ), macrophage migration inhibitory factor (MIF ) gene polymorphisms, Helicobacter pylori (H. pylori ) infection, on the risk of developing severe chronic atrophic...AIM: To investigate the effects of interleukin-8 (IL-8 ), macrophage migration inhibitory factor (MIF ) gene polymorphisms, Helicobacter pylori (H. pylori ) infection, on the risk of developing severe chronic atrophic gastritis (SCAG) and intestinal metaplasia (IM). METHODS: A total of 372 cases were selected from a cohort study in Linqu County, a high risk area for gastric cancer (GC) in northern China. To obtain a sufficient group size, patients with normal or superficial gastritis were included. Based on an average follow-up period of 56 mo, the 372 cases were divided into no progres-sion group (no histological progression from normal or superficial gastritis, n = 137), group Ⅰ (progressed from normal or superficial gastritis to SCAG, n = 134) and group Ⅱ (progressed from normal or superficial gastritis to IM, n = 101). IL-8 , MIF gene polymorphisms were detected by polymerase chain reaction-based denaturing high-performance liquid chromatography analysis and DNA sequencing. RESULTS: An increased risk of SCAG was found in subjects with IL-8-251 AA genotype [odds ratio (OR) = 2.62, 95% CI: 1.23-5.72] or IL-8-251 A allele carriers (AA + AT) (OR = 1.81, 95% CI: 1.06-3.09). An elevated risk of IM was found in subjects with IL-8-251 AT genotype (OR = 2.27, 95% CI: 1.25-4.14) or IL-8-251 A allele carriers (OR = 2.07, 95% CI: 1.16-3.69). An increased risk of SCAG was found in subjects with MIF-173 GC genotype (OR = 2.36, 95% CI: 1.38-4.02) or MIF-173 C allele carriers (GC + CC) (OR = 2.07, 95% CI: 1.21-3.55). An elevated risk of IM was found in subjects with MIF-173 CC genotype (OR = 2.27, 95% CI: 1.16-4.46) or MIF-173 C allele carriers (OR = 3.84, 95% CI: 1.58-9.34). The risk of SCAG and IM was more evident in subjects carrying IL-8-251 A allele (OR = 6.70, 95% CI: 1.29-9.78) or MIF-173 C allele (OR = 6.54, 95% CI: 2.97-14.20) and positive for H. pylori infection. CONCLUSION: IL-8-251 and MIF-173 gene polymorphisms are significantly associated with the risk of SCAG and IM in a population with a high risk of GC in Linqu County, Shandong Province, China.展开更多
BACKGROUND Single-nucleotide polymorphisms(SNPs)of the serotonin type 3 receptor subunit(HTR3)genes have been associated with psychosomatic symptoms,but it is not clear whether these associations exist in irritable bo...BACKGROUND Single-nucleotide polymorphisms(SNPs)of the serotonin type 3 receptor subunit(HTR3)genes have been associated with psychosomatic symptoms,but it is not clear whether these associations exist in irritable bowel syndrome(IBS).AIM To assess the association of HTR3 polymorphisms with depressive,anxiety,and somatization symptoms in individuals with IBS.METHODS In this retrospective study,623 participants with IBS were recruited from five specialty centers in Germany,Sweden,the United States,the United Kingdom,and Ireland.Depressive,anxiety,and somatization symptoms and sociodemographic characteristics were collected.Four functional SNPs—HTR3A c.-42C>T,HTR3B c.386A>C,HTR3C c.489C>A,and HTR3E c.*76G>A—were genotyped and analyzed using the dominant and recessive models.We also performed separate analyses for sex and IBS subtypes.SNP scores were calculated as the number of minor alleles of the SNPs above.The impact of HTR3C c.489C>A was tested by radioligand-binding and calcium influx assays.RESULTS Depressive and anxiety symptoms significantly worsened with increasing numbers of minor HTR3C c.489C>A alleles in the dominant model(F_(depressive)=7.475,P_(depressive)=0.006;F_(anxiety)=6.535,P_(anxiety)=0.011).A higher SNP score(range 0-6)was linked to a worsened depressive symptoms score(F=7.710,P-linear trend=0.006)in IBS.The potential relevance of the HTR3C SNP was corroborated,showing changes in the expression level of 5-HT3AC variant receptors.CONCLUSION We have provided the first evidence that HTR3C c.489C>A is involved in depressive and anxiety symptoms in individuals with IBS.The SNP score indicated that an increasing number of minor alleles is linked to the worsening of depressive symptoms in IBS.展开更多
Objectives Apolipoprotein(Apo) A5 gene poly-morphisms and alcohol consumption have been associated with increased serum triglyceride(TG) levels,but little is known about their interactions on serum lipid levels.The pr...Objectives Apolipoprotein(Apo) A5 gene poly-morphisms and alcohol consumption have been associated with increased serum triglyceride(TG) levels,but little is known about their interactions on serum lipid levels.The present study was undertaken polymorphismsand alcohol consumption on serum lipid levels.Methods A total of 516 unrelated nondrinkers and 514 drinkers aged 15 -89 were randomly selected from our previous stratified randomized cluster samples.Genotyping of the ApoA5was performed by polymerase chain reaction and restriction fragment length polymorphism,and then confirmed by direct sequencing.Interactions of the ApoA5alcohol consumption were assessed by using a cross-product term between genotypes and the aforementioned factor.Results The levels of total cholesterol (TC),TG,high-density lipoprotein cholesterol(HDL-C), ApoA1 and ApoB were higher in drinkers than in nondrinkers (P【0.05-0.001).The genotypic and allelic frequencies of the three single nucleotide polymorphisms(SNPs) were not different between the two groups.The levels of TG in non-drinkers, and TC,TG,low-density lipoprotein cholesterol (LDL-C)and ApoB in drinkers were different among the three -1131T】C genotypes(P【0.05-0.001).The -1131C allele carriers had higher serum TC,TG,LDL-C and ApoB levels than the allele noncarriers.The levels of TG,HDL-C and ApoB in nondrinkers,and TG and HDL-C in drinkers were different between the two c.553G】T genotypes(P【0.05-0.01).The C.553T allele carriers had higher serum TG and ApoB levels,and lower HDL-C levels than the allele noncarriers.Serum lipid levels in nondrinkers were not different among the three c.457G】A genotypes(P【0.05 for all), but the levels of HDL-C,LDL-C,ApoA1 and ApoB in drinkers were different between the GG and GA/AA geno-types (P【0.05-0.001).The C.457A allele carriers had lower serum HDL-C,LDL-C,ApoAl and ApoB levels than the allele noncarriers.We also observed four haplotypes:G-G-T, G-G-C,G-A-T,and T-G-C with frequencies ranging from 0.06 to 0.87,representing 100%of all haplotypes in the both populations.The ApoA5 haplotypes were significantly(P【0.05) associated at the global level with TC,TG,HDL-C, LDL-C,Apo1,and ApoB,even after correction for multiple testing with permutation test.In particular,carriers of haplo-type G-G-C had significantly higher TC,TG,LDL-C,ApoB than noncarriers,whereas carriers of haplotype C-A-T had significantly lower TC,LDL-C,ApoAl and ApoB,and higher HDL-C than noncarriers.Serum TC levels in nondrinkers were correlated with -1131T】C genotype and allele(P【0.05 for each),whereas serum TC,TG and LDL-C levels in drinkers were associated with -1131 T】C and C.553G】T genotypes,or c.457G】A alleles(P【0.05-0.001).Serum lipid parameters were also correlated with several environmental factors in the both groups.Conclusions The differences in serum lipid profiles between the drinkers and nondrinkers might partly result from different interactions of ApoA5 gene polymor phisms and alcohol consumption.genotypes and -1131T】C, c.553G】T and c.457G】A to detect the interactions of the ApoA5展开更多
BACKGROUND:Genetic variations of the 5-lipoxygenase activating protein and leukotriene A4 hydrolase genes that confer an increased risk of ischemic stroke have implicated the family of leukotrienes as potential mediat...BACKGROUND:Genetic variations of the 5-lipoxygenase activating protein and leukotriene A4 hydrolase genes that confer an increased risk of ischemic stroke have implicated the family of leukotrienes as potential mediators of ischemic stroke.This study aimed to explore the association of ALOX5,LTA4 H and LTC4 S gene polymorphisms with ischemic stroke risk in a cohort of Chinese in east China.METHODS:This case-control study consisted of 690 patients with ischemic stroke and 690 controls.Polymorphisms of ALOX5 rs2029253 A/G,LTA4 H rs6538697 T/C,and LTC4 S rs730012 A/C were genotyped by the polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP) analysis.The multivariate logistic regression model was used to exclude the effects of conventional risk factors on ischemic stroke.RESULTS:Carriers of C allele in rs730012 were more susceptible to ischemic stroke(OR:1.37;95%CI:1.08-1.73;P=0.009).The rs2029253 GG genotype showed a risk-reducing effect on ischemic stroke(OR:0.72;95%CI:0.55-0.93;P=0.013) while the rs6538697 CC genotype had an increased risk of ischemic stroke(OR:1.77;95%CI:1.09-2.89;P=0.022).The rs730012 variant was not associated with ischemic stroke risk after adjusting confounding factors(P>0.05).CONCLUSION:The present study suggested that gene polymorphisms in the leukotrienes pathway may exert influences,with independent genetic effects,on ischemic stroke susceptibility in a cohort of Chinese in east China.展开更多
Spinal tuberculosis,as one of the most serious forms of extrapulmonary tuberculosis,is one of the primary causes of spinal deformity and paralysis in developing countries.It immensely affects people's quality of l...Spinal tuberculosis,as one of the most serious forms of extrapulmonary tuberculosis,is one of the primary causes of spinal deformity and paralysis in developing countries.It immensely affects people's quality of life with high incidences of deformity and disability.The onset of spinal tuberculosis is related to many factors such as gender,age,environment,habits and hereditary factor.As a genetic factor,gene polymorphism plays an important role in the occurrence and development of tuberculosis.This article reviews the research progress of the susceptibility of spinal tuberculosis and its related gene polymorphisms,in order to provide reference for early prevention and treatment of spinal tuberculosis.展开更多
AIM:To investigate hepatitis virus, genetic and environmental factors, and their interactions in predisposing patients to liver diseases in Northeast India. METHODS:A total of 104 jaundice patients and 124 community c...AIM:To investigate hepatitis virus, genetic and environmental factors, and their interactions in predisposing patients to liver diseases in Northeast India. METHODS:A total of 104 jaundice patients and 124 community controls were included. Serological analysis was performed by routine enzyme-linked immunosorbent assay, and nucleic acid testing for hepatitis viruses was done by polymerase chain reaction (PCR), followed by PCR direct sequencing for viral genotyping. Cytochrome P450 2E1 (CYP2E1) polymorphism was studied by PCR-restriction fragment length polymorphism. Nitrite and volatile nitrosamines in indigenous foods consumed routinely by the Northeast Indian ethnic population were estimated by Griess’s reagent and GC-MS, respectively.RESULTS: Hepatitis A virus (HAV) infection was predominantly prevalent (36.5%) in our cohort, followed by hepatitis B virus (HBV), hepatitis E virus (HEV) andhepatitis C virus. HBV genotype D and HEV genotype 1 were the most dominant. CYP2E1 c1/c2 genotype frequency was comparatively higher in alcoholic (P<0.0001,OR =30.5) and cryptogenic (P=0.014, OR=8.714) patients, and was associated with significantly higher hepatitis risk (P=0.0.007,OR=6.489). Mutant C allele of Cyp2E1 DraⅠ frequency was comparatively higher in HAV (P=0.006), alcoholic (P =0.003) and cryptogenic (P=0.014) cases, and was associated with overall hepatitis risk (P=0.026, OR=5.083). Indigenous foods, Gundruk, Kharoli, betel leaf and nuts were found to have the highest nitrite content. CONCLUSION: Apart from viral factors, CYP2E1 polymorphism might be associated with increased risk of liver diseases in Northeast India. Indigenous foods that contain nitrite and nitrosamine might be an associated risk factor.展开更多
In recent years,many studies have investigated the correlations between Parkinson's disease(PD)and vitamin D status,but the conclusion remains elusive.The present review focuses on the associations between PD and ...In recent years,many studies have investigated the correlations between Parkinson's disease(PD)and vitamin D status,but the conclusion remains elusive.The present review focuses on the associations between PD and serum vitamin D levels by reviewing studies on the associations of PD with serum vitamin D levels and vitamin D receptor(VDR)gene polymorphisms from PubMed,Web of Science,Cochrane Library,and Embase databases.We found that PD patients have lower vitamin D levels than healthy controls and that the vitamin D concentrations are negatively correlated with PD risk and severity.Furthermore,higher vitamin D concentrations are linked to better cognitive function and mood in PD patients.Findings on the relationship between VDR gene polymorphisms and the risk of PD are inconsistent,but the Fokl(C/M)polymorphism is significantly linked with PD.The occurrence of Fokl(CT)gene polymorphism may influence the risk,severity,and cognitive ability of PD patients,while also possibly influencing the effect of Vitamin D3 supplementation in PD patients.In view of the neuroprotective effects of vitamin D and the close association between vitamin D and dopaminergic neurotransmission,interventional prospective studies on vitamin D supplementation in PD patients should be conducted in the future.展开更多
Various polymorphisms in cytokine genes have recently been investigated as candidate risk factors in allogeneic hematopoetic stem cell transplantation(allo-HSCT).We retrospectively analyzed specific polymorphisms in g...Various polymorphisms in cytokine genes have recently been investigated as candidate risk factors in allogeneic hematopoetic stem cell transplantation(allo-HSCT).We retrospectively analyzed specific polymorphisms in genes for interleukin(IL)-10,IL-6,tumor-necrosis factor alpha(TNF-α)and interferon gamma(IFN-c)in a pediatric cohort of 57 histocompatibility leucocyte antigen(HLA)-identical sibling myeloablative transplants.Both recipient and donor genotypes were tested for association with graft-versus-host disease(GVHD)by statistical methods including Cox regression analysis.We found a significant association between the IL-10 promoter haplotype polymorphisms at positions-1082,-819 and-592 with the occurrence of severe(grades Ⅲ–Ⅳ)acute GVHD(aGVHD).Recipients with the haplotype GCC had a statistically significant decreased risk of severe aGVHD(hazard risk(HR)50.20,95% confidence interval(CI):0.06–0.67)in comparison with patients with other IL-10 haplotypes(P50.008).Transplant-related mortality at 1 year was significantly lower in recipients with this haplotype(HR50.17,95% CI:0.012–0.320)versus other IL-10 haplotypes(P=0.03),whereas overall survival was not influenced by IL-10 haplotype polymorphisms.In multivariate analysis,the presence of the IL-10 GCC haplotype was found as the only variable associated with a statistically significant decreased hazard of severe aGVHD development(P=0.02,HR50.21,95% CI:0.05–0.78).These results suggest that pediatric patients possessing the IL-10 GCC haplotype may be protected from the occurrence of severe aGVHD in the setting of matched sibling HSCT.展开更多
Genetic factors and gene polymorphisms leading to the onset of autoimmune response in autoimmune hepatitis(AIH)are still not full elucidated.Since the CTLA-4 molecule is a key modulator of the lymphocytes responses we...Genetic factors and gene polymorphisms leading to the onset of autoimmune response in autoimmune hepatitis(AIH)are still not full elucidated.Since the CTLA-4 molecule is a key modulator of the lymphocytes responses we hypothezied that deficiencies or mutations in the gene encoding CTLA4 protein may be involved in AIH susceptibility and trigger the autoimmune response.We investigated 3 distinct polymorphic sites(t49A>G,CT60 G>A and e318C>T)of the CTLA4 gene in 50 AIH patients and 100 healthy controls using the KASP genotyping technology.A significant positive association with AIH susceptibility was found for the GG genotype in t49 position of the CTLA4 gene which was significantly higher in AIH patients compared to controls(28%vs 9%,pZ0.003,ORZ3.93[1.56e9.88]).The CTLA4 A/A genotype in position CT60 was more significantly frequent in controls comparing to AIH patients and could be considered as a protective genotype for the tunisian patients.CTLA4 genotyping in position318 did not show any statistically significant difference in genotype or allele distribution.The CTLA4 gene polymorphism in position t49 is associated to AIH susceptibility in the Tunisian population.Mutation in the CTLA4 gene may lead to a modification of the CTLA4 protein structure that could have functional relevance in AIH pathogenesis and onset.展开更多
This study examined the inhibitory effect of triptolid(TP)on tumor necrosis factor-α(TNF-α)secreted from peripheral blood monocular cells(PBMCs)and the association of the inhibitory effect with TNF-α-308 gene polym...This study examined the inhibitory effect of triptolid(TP)on tumor necrosis factor-α(TNF-α)secreted from peripheral blood monocular cells(PBMCs)and the association of the inhibitory effect with TNF-α-308 gene polymorphisms in rheumatoid arthritis(RA)patients.Gene polymorphism at A-G site 308 in the promoter region of TNF-αgene was detected in 42 RA patients by using allele specific polymerase chain reaction(AS-PCR)assay.PBMCs were harvested from these patients and treatedfirst with lipopolysaccharides(LPS)and then with different doses of TP(1,5.4 and 15 ng/mL).The TNF-αlevel in the supernatants was measured by enzyme-linked immuno-sorbent assay(ELISA).The results showed that TNF-αlevel in the supernatants of TP(1 ng/mL)-treated PBMCs was decreased by 3.80%and 4.91%,respectively,in the patients with AA and AG genotypes,when compared with those treated with LPS alone(P>0.05).Moreover,the TNF-αlevel in the patients with GG genotype was reduced by 20.74%(P<0.05).When PBMCs were treated with TP at 5.4 ng/mL,TNF-αlevels in the patients with AA,AG,and GG genotypes were decreased by 20.42%,34.73%,and 41.69%,respectively(P<0.05).The TNF-αlevel was slightly higher in the PBMCs treated with 15 ng/mL of TP than those in the two TP groups in the patients carrying AA,AG,and GG genotypes(P>0.05).It was concluded that gene polymorphism at TNF-α-308 sites may relate to the secretion of TNF-αin RA patients.TP has different inhibitory effects on the secretion of TNF-αin the patients harboring different genotypes,which may be one of the reasons for individual variation in response to TP.展开更多
Background:Chronic obstructive pulmonary disease(COPD)is a leading cause of morbidity and mortality worldwide.Genome-wide association studies in non-Asian population revealed a link between COPD and mutations in the P...Background:Chronic obstructive pulmonary disease(COPD)is a leading cause of morbidity and mortality worldwide.Genome-wide association studies in non-Asian population revealed a link between COPD and mutations in the PTCH1 gene encoding Patched1,a receptor in the Hedgehog signaling pathway important for lung morphogenesis and pulmonary function.The aim of this study was to investigate the association between PTCH1 polymorphisms and the COPD risk in the Chinese Han population.Methods:We performed a case-control study including 296 patients with COPD and 300 healthy individuals.Single-nucleotide polymorphisms in the PTCH1 gene were identified and genotyped based on the linkage disequilibrium analysis in all participants.Odds ratios(ORs)and 95%confidence intervals(95%CIs)were estimated using logistic regression analysis after adjustment for age,gender,and smoking.Results:In total,28 single-nucleotide polymorphisms were identified in patients with COPD.Among them,"A"allele of rs28491365(OR:1.388,95%CI:1.055-1.827,P=0.018),and"G"alleles of rs10512248(OR:1.299,95%CI:1.021-1.653,P=0.033)and rs28705285(OR:1.359,95%CI:1.024-1.803,P=0.033;respectively)were significantly associated with an increased COPD risk.Genetic model analysis revealed that the"T/T"genotype of rs34695652 was associated with a decreased COPD risk under the recessive model(OR:0.490,95%CI:0.270-0.880,P=0.010),whereas rs28504650/rs10512248 haplotype CG was significantly associated with an increased COPD risk after adjustment for age,gender,and smoking status(OR:6.364,95%CI:1.220-33.292,P=0.028).Conclusions:The study provides a new insight into the role of PTCH1 polymorphisms in the susceptibility to COPD in the Chinese Han population.展开更多
Background:Interleukin-18(IL18)gene polymorphisms are related to many inflammatory and autoimmune diseases.However,a correlation analysis between IL18-607C/A and-137G/C gene polymorphisms and Takayasu arteritis(TA)is ...Background:Interleukin-18(IL18)gene polymorphisms are related to many inflammatory and autoimmune diseases.However,a correlation analysis between IL18-607C/A and-137G/C gene polymorphisms and Takayasu arteritis(TA)is lacking.Methods:This study enrolled 200 patients with TA as the case group and 334 region-,age-,and sex-matched healthy subjects as the control group.We genotyped alleles and genotypes at positions-607 and-137 of the IL18 gene and analyzed the distribution frequencies.Mann-Whitney U test,t test,Chi-squared test and Hardy-Weinberg equilibrium were performed.Results:After adjusting for risk factors,the adjusted odds ratios and 95%confidence intervals at position-607C/A were 0.533,0.391 to 0.880(P=0.010);0.266,0.586 to 1.002(P=0.051);and 0.122,0.552 to 1.420(P=0.613)under the dominant,additive,and recessive models,respectively.For the-137G/C polymorphism,the adjusted odds ratios and 95%confidence intervals were 1.571,1.068 to 2.311(P=0.022);1.467,1.086 to 1.980(P=0.012);and 1.815,0.901 to 3.656(P=0.095)under the dominant,additive,and recessive models,respectively.Moreover,regardless of the model used,we found no statistical difference in distribution frequency between the active and quiescent states of TA for the-607C/A(P=0.355,0.631,and 0.705,respectively)and-137G/C polymorphisms(P=0.205,0.385,and 0.208,respectively).Conclusions:The IL18-607C/A gene polymorphism may decrease the risk of TA,and thus is a protective factor,whereas-137G/C may increase the risk of TA,and thus is a risk factor.However,neither polymorphism was related to activity(active vs.quiescent)of TA.展开更多
Objective To explore the association of single nucleotide polymorphisms(SNPs)of the vitamin D receptor gene(VDR)with circulating lipids considering gender differences.Methods Of the Han Chinese adults recruited from a...Objective To explore the association of single nucleotide polymorphisms(SNPs)of the vitamin D receptor gene(VDR)with circulating lipids considering gender differences.Methods Of the Han Chinese adults recruited from a health examination center for inclusion in the study,the circulating lipids,25-hydroxyvitamin D(25OHD),and other parameters were measured.The VDR SNPs of Cdx2(rs11568820),Fok1(rs2228570),Apa1(rs7975232),and Taq1(rs731236)were genotyped with a qPCR test using blood DNA samples,and their associations with lipids were analyzed using logistic regression.Results In the female participants(n=236 with dyslipidemia and 888 without dyslipidemia),multiple genotype models of Fok1 indicated a positive correlation of B(not A)alleles with LDLC level(P<0.05).In the male participants(n=299 with dyslipidemia and 564 without dyslipidemia),the recessive model of Cdx2 and the additive and recessive models of Fok1 differed(P<0.05)between the HDLC-classified subgroups,respectively,and Fok1 BB and Cdx2 TT presented interactions with 25OHD in the negative associations with HDLC(P<0.05).Conclusion In the Chinese Han adults included in the study,the Fok1 B-allele of VDR was associated with higher LDLC in females,and the Fok1 B-allele and the Cdx2 T-allele of VDR were associated with lower HDLC in males.The interaction of VD and Fok1 BB or Cdx2 TT in males synergistically decreased HDLC levels.展开更多
Background:Henoch-Schönlein purpura(HSP)or IgAassociated vasculitis is related to immune disturbances.Polymorphisms of the heat shock protein 70-2 gene(HSP70-2)and the tumor necrosis factor-αgene(TNF-α)are know...Background:Henoch-Schönlein purpura(HSP)or IgAassociated vasculitis is related to immune disturbances.Polymorphisms of the heat shock protein 70-2 gene(HSP70-2)and the tumor necrosis factor-αgene(TNF-α)are known to be associated with immune diseases.The purpose of this study was to investigate the likely association of HSP70-2(+1267A/G)and TNF-α(+308A/G)gene polymorphisms with HSP in children.Methods:The polymerase chain reaction restriction fragment length polymorphism method was used to detect the HSP70-2 and TNF-αpolymorphisms in 205 cases of children with HSP and 53 controls;and the association of these polymorphisms with HSP and HSP nephritis(HSPN)was analyzed.Results:The G/G genotypic frequencies at the+1267A/G position of HSP70-2 in the HSP group(22.9%)were signifi cantly higher than those in the healthy control group(9.4%)(χ^(2)=4.764,P<0.05).The frequencies of the A/A,A/G and G/G genotypes of HSP70-2 in patients in the nephritis-free group and the HSPN group showed no statistically significant difference.The A/A genotype frequency at the+308G/A position of TNF-αin the HSP group was 8.3%,which was higher than that in the control group(χ^(2)=6.447,P<0.05).The A allele frequency of TNF-αin the HSP group was higher than that in the control group,with a statistically significant difference(χ^(2)=7.241,P<0.05).Conclusions:The HSP70-2(+1267A/G)and TNF-α(+308G/A)gene polymorphisms were associated with HSP in children.The G/G homozygosity of HSP70-2 and the A/A homozygosity of TNF-αmay be genetic predisposing factors for HSP.展开更多
BACKGROUND: The prevalences of hypertension, cerebrovascular diseases, etc. are higher in Mongolian population because of the influence of various factors including genetics, geography, diet, etc. Therefore, it is hel...BACKGROUND: The prevalences of hypertension, cerebrovascular diseases, etc. are higher in Mongolian population because of the influence of various factors including genetics, geography, diet, etc. Therefore, it is helpful to develop researches on the genetics of various diseases including hypertension in Mongolian population. OBJECTIVE: To analyze the association between the polymorphism of beta1 adrenergic receptor (β1-AR) gene G1165C (Arg389Gly), an important candidate gene for various diseases of cardiovascular system, and essential hypertension in Mongolian population. DESIGN: A cross-sectional study. SETTINGS: Department of Neurology, the First Affiliated Hospital of Inner Mongolia Medical College; Wulate Houqi Red Cross Society. PARTICIPANTS: The survey was carried out from February 2003 to March 2005. Totally 239 Mongolian residents, whose blood relations of 3 generations were all Mongolians, were selected from Wulate Houqi, Inner Mongolia, and they were all informed with the survey and detected items. Based on the diagnostic standard of hypertension set by WHO in 1999, the subjects were divided into two groups according to the level blood pressure: ① Normal blood pressure group (n=117): systolic blood pressure (SBP) < 140 mm Hg (1 mm Hg =0.133 kPa), diastolic blood pressure (DBP) < 90 mm Hg, and those having histories of cerebrovascular disease, heart disease, diseases of liver, kidney and tiroides, and diabetes mellitus were excluded. ② Essential hypertension group (n=122): including 51 patients with simple high SBP. All the enrolled subjects had no blood relationship with each other, and had no history of miscegenation. METHODS: The body height, body mass, waist circumference and blood lipids were measured routinely, and their habits of smoking and drinking were also investigated. Peripheral venous blood (5 mL) was drawn, the genome DNA was extracted, and the polymorphisms of the β1-AR G1165C (Gly389Arg) genotype were detected with the Sequenom system. Polymerase chain reaction (PCR) experiment and SNP detection were performed in Huada Gene Laboratory of Bejing, then the univariate analysis of variance was applied in the sample comparison among groups, and the chi-square test was used to compare the genotypes and allele frequencies. The odd ratio (OR) and 95% confidence interval (CI) were calculated. MAIN OUTCOME MEASURES: The distributions of β1-AR G1165C (Gly389Arg) genotypes and alleles were observed. RESULTS: All the 239 subjects were involved in the analysis of results, and no one missed. ①Comparison of β1-AR G1165C (Gly389Arg) genotypes and allele distributions: In Mongolian population, the frequencies of CC and GG+GC genotypes at β1-AR G1165C (Gly389Arg) site in the essential hypertension group (72%, 28%) were not significantly different from those in the normal blood pressure group (67%, 33%) (χ2=0.841, P=0.359; OR: 0.773, 95%CI: 0.445-1.342); The frequencies of C and G alleles also had no significant differences between the essential hypertension group (85%, 15%) and the normal blood pressure group (82%, 18%) (χ2=1.136, P=0.287; OR: 0.769, 95%CI: 0.747-1.248). ②The frequencies of CC and GG+GC genotypes at β1-AR G1165C (Gly389Arg) site had no significant differences between the patients with simple high SBP (71%, 29%) and the normal blood pressure group (χ2=0.250, P=0.617; OR: 0.833, 95%CI: 0.408-1.703); The frequencies of C and G alleles were not significantly different between the patients with simple high SBP (86%, 14%) and the normal blood pressure group (χ2=0.670, P=0.413; OR: 0.766, 95%CI: 0.404-1.453). CONCLUSION: In Mongolian population, the distributions of the genotypes and alleles of β1-AR G1165C (Gly389Arg) have no obvious differences between the subjects with normal blood pressure and the patients with essential hypertension (including simple SBP increase), which suggests that G1165C (Glu389Asp) site of β1-AR gene may be not a genetic mark of essential hypertension and simple high SBP in Mongolian population.展开更多
The purpose of this study was to analyse polymorphisms of the CAPN1, CAST and MSTN genes and their association with the microstructure of the Musculus longissimus thoracis (MLT) and textural parameters in bulls of the...The purpose of this study was to analyse polymorphisms of the CAPN1, CAST and MSTN genes and their association with the microstructure of the Musculus longissimus thoracis (MLT) and textural parameters in bulls of the Holstein-Friesian breeds, black-and-white variety. The polymorphisms at the three loci: in position 6536 of the 3’UTR region of the CAPN1 gene, in position 230 of intron 5 in CAST gene, and in position 371 of the promoter region of the MSTN gene were analysed. Given the inconsequential genetic diversity at the analysed CAPN1 and MSTN loci in the animal sample, it was considered unreasonable to perform further statistical analyses aimed at determining associations between polymorphisms in these positions and meat characteristics. Based on an analysis of the CAST gene polymorphism, a significant association with certain histological and textural parameters was identified.展开更多
BACKGROUND Diabetic kidney disease is one of the common complications of type 2 diabetes(T2D).There are no typical symptoms in the early stage,and the disease will progress to moderate and late stage when albuminuria ...BACKGROUND Diabetic kidney disease is one of the common complications of type 2 diabetes(T2D).There are no typical symptoms in the early stage,and the disease will progress to moderate and late stage when albuminuria reaches a high level.Treatment is difficult and the prognosis is poor.At present,the pathogenesis of diabetic kidney disease is still unclear,and it is believed that it is associated with genetic and environmental factors.AIM To explore the relationship between the glucokinase regulatory protein(GCKR)gene rs780094 polymorphism and T2D with albuminuria.METHODS We selected 252 patients(126 males and 126 females)with T2D admitted to our hospital from January 2020 to October 2020,and 66 healthy people(44 females and 22 males).According to the urinary albumin/creatinine ratio,the subjects were divided into group I(control),group II(T2D with normoalbuminuria),group III(T2D with microalbuminuria),and group IV(T2D with macroalbuminuria).Additionly,the subjects were divided into group M(normal group)or group N(albuminuria group)according to whether they developed albuminuria.We detected the GCKR gene rs780094 polymorphism(C/T)of all subjects,and measured the correlation between GCKR gene rs780094 polymorphism(C/T)and T2D with albuminuria.RESULTS Gene distribution and genotype distribution among groups I-IV accorded with the Hardy-Weinberg equilibrium.Genotype frequency was significantly different among the four groups (P = 0.048, χ^(2)= 7.906). T allele frequency in groups II, III, and IV was significantly higherthan that in group I. Logistic regression analysis of the risk factors for T2D with albuminuria showed that the CT +TT genotype (odds ratio = 1.710, 95% confidence interval: 1.172-2.493) was a risk factor.CONCLUSION CT + TT genotype is a risk factor for T2D with albuminuria. In the future, we can assess the risk of individualscarrying susceptible genes to delay the onset of T2D.展开更多
基金Capital Clinical Characteristic Application Research Project(No.Z181100001718144)Beijing Tongzhou District Science and Technology Plan Project(No.KJ2017CX036-06)In-hospital Project of Shanghai Jinshan District Integrated Traditional Chinese and Western Medicine Hospital(No.2022-1)。
文摘Objective:To analyze the genotype and allele distribution characteristics of GPⅢa PLA2(rs5918),PEAR1(rs12041331),and PTGS1(rs10306114)genes related to the antiplatelet pharmacological effects of aspirin,providing reference for individualized treatment of Chinese Han NSTEMI patients.Methods:A total of 107 Han patients with NSTEMI in Beijing Luhe Hospital affiliated to Capital Medical University from January 2016 to December 2022 were selected as the research subjects.The genotypes of GPⅢa PLA2(rs5918),PEAR1(rs12041331)and PTGS1(rs10306114)were detected by fluorescence staining in situ hybridization.The frequency distribution and allele distribution of genotype were analyzed.The results were analyzed whether there were statistical differences in the distribution of related alleles between the Han NSTEMI population and some populations in the 1000 Genomes database.Results:In the Han NSTEMI population,the genotype frequencies of GPⅢa PLA2(rs5918)locus were TT 97.20%,TC 2.80%and CC 0%,the allele frequencies were T 98.60%and C 1.40%.The genotype frequencies of PEAR1(rs12041331)locus were GG 42.06%,GA 44.86%and AA 13.08%,the allele frequencies were G 64.49%and A 35.51%.The genotypes at the PTGS1(rs10306114)locus were all AA(100%),no AG or GG genotype was found.Conclusion:In the NSTEMI population of Han nationality,the mutation at GPⅢa PLA2(rs5918)site related to aspirin antiplatelet pharmacology is rare,and there is no mutation at PTGS1(rs10306114)site.Wild homozygotes are dominant in these two gene loci,while mutations in PEAR1(rs12041331)are more common.Some of the findings in this study are similar to those in previous reports or other populations included in the relevant database;however,some results differ from previous reports or other populations。
文摘BACKGROUND Genetic factors play an important role in the pathogenesis of panic disorder(PD).However,the effect of genetic variants on PD remains controversial.AIM To evaluate the associations between glutamate decarboxylase 1(GAD1)gene polymorphisms and PD risk and assess the effect of GAD1 gene polymorphisms on the severity of clinical symptoms in PD.METHODS We recruited 230 PD patients and 224 healthy controls in this study.All participants were assessed for anxiety and panic symptom severity using the Hamilton Anxiety Rating Scale(HAM-A)and Panic Disorder Severity Scale(PDSS).GAD1 gene polymorphisms(rs1978340 and rs3749034)were genotyped and assessed for allele frequencies.RESULTS There were no significant differences between cases and controls in the genotype distributions or allele frequencies of GAD1(rs1978340 and rs3749034).In addition,the effect of GAD1(rs1978340 and rs3749034)on PD severity was not significant.However,regarding respiratory symptoms,patients with the GAD1 rs1978340 A/A genotype had significantly higher scores than those with the A/G or G/G genotype.CONCLUSION Here,we showed that the A/A genotype of GAD1 rs1978340 was associated with increased severity of respiratory symptoms in patients with PD.
基金Supported by The Grants from Beijing Municipal Science Foundationthe Key Technology Research and Development Program, No. 2002BA711A06+1 种基金the National 973 Project, No.1998051203863 Project, No. 2006A402
文摘AIM: To investigate the effects of interleukin-8 (IL-8 ), macrophage migration inhibitory factor (MIF ) gene polymorphisms, Helicobacter pylori (H. pylori ) infection, on the risk of developing severe chronic atrophic gastritis (SCAG) and intestinal metaplasia (IM). METHODS: A total of 372 cases were selected from a cohort study in Linqu County, a high risk area for gastric cancer (GC) in northern China. To obtain a sufficient group size, patients with normal or superficial gastritis were included. Based on an average follow-up period of 56 mo, the 372 cases were divided into no progres-sion group (no histological progression from normal or superficial gastritis, n = 137), group Ⅰ (progressed from normal or superficial gastritis to SCAG, n = 134) and group Ⅱ (progressed from normal or superficial gastritis to IM, n = 101). IL-8 , MIF gene polymorphisms were detected by polymerase chain reaction-based denaturing high-performance liquid chromatography analysis and DNA sequencing. RESULTS: An increased risk of SCAG was found in subjects with IL-8-251 AA genotype [odds ratio (OR) = 2.62, 95% CI: 1.23-5.72] or IL-8-251 A allele carriers (AA + AT) (OR = 1.81, 95% CI: 1.06-3.09). An elevated risk of IM was found in subjects with IL-8-251 AT genotype (OR = 2.27, 95% CI: 1.25-4.14) or IL-8-251 A allele carriers (OR = 2.07, 95% CI: 1.16-3.69). An increased risk of SCAG was found in subjects with MIF-173 GC genotype (OR = 2.36, 95% CI: 1.38-4.02) or MIF-173 C allele carriers (GC + CC) (OR = 2.07, 95% CI: 1.21-3.55). An elevated risk of IM was found in subjects with MIF-173 CC genotype (OR = 2.27, 95% CI: 1.16-4.46) or MIF-173 C allele carriers (OR = 3.84, 95% CI: 1.58-9.34). The risk of SCAG and IM was more evident in subjects carrying IL-8-251 A allele (OR = 6.70, 95% CI: 1.29-9.78) or MIF-173 C allele (OR = 6.54, 95% CI: 2.97-14.20) and positive for H. pylori infection. CONCLUSION: IL-8-251 and MIF-173 gene polymorphisms are significantly associated with the risk of SCAG and IM in a population with a high risk of GC in Linqu County, Shandong Province, China.
基金results in part from collaboration and network activities promoted under the frame of the international network GENIEUR (Genes in Irritable Bowel Syndrome Research Network Europe),which has been funded by the COST program (BM1106, www.GENIEUR.eu)currently supported by the European Society of Neurogastroenterology and Motility (ESNM, www.ESNM.eu)
文摘BACKGROUND Single-nucleotide polymorphisms(SNPs)of the serotonin type 3 receptor subunit(HTR3)genes have been associated with psychosomatic symptoms,but it is not clear whether these associations exist in irritable bowel syndrome(IBS).AIM To assess the association of HTR3 polymorphisms with depressive,anxiety,and somatization symptoms in individuals with IBS.METHODS In this retrospective study,623 participants with IBS were recruited from five specialty centers in Germany,Sweden,the United States,the United Kingdom,and Ireland.Depressive,anxiety,and somatization symptoms and sociodemographic characteristics were collected.Four functional SNPs—HTR3A c.-42C>T,HTR3B c.386A>C,HTR3C c.489C>A,and HTR3E c.*76G>A—were genotyped and analyzed using the dominant and recessive models.We also performed separate analyses for sex and IBS subtypes.SNP scores were calculated as the number of minor alleles of the SNPs above.The impact of HTR3C c.489C>A was tested by radioligand-binding and calcium influx assays.RESULTS Depressive and anxiety symptoms significantly worsened with increasing numbers of minor HTR3C c.489C>A alleles in the dominant model(F_(depressive)=7.475,P_(depressive)=0.006;F_(anxiety)=6.535,P_(anxiety)=0.011).A higher SNP score(range 0-6)was linked to a worsened depressive symptoms score(F=7.710,P-linear trend=0.006)in IBS.The potential relevance of the HTR3C SNP was corroborated,showing changes in the expression level of 5-HT3AC variant receptors.CONCLUSION We have provided the first evidence that HTR3C c.489C>A is involved in depressive and anxiety symptoms in individuals with IBS.The SNP score indicated that an increasing number of minor alleles is linked to the worsening of depressive symptoms in IBS.
文摘Objectives Apolipoprotein(Apo) A5 gene poly-morphisms and alcohol consumption have been associated with increased serum triglyceride(TG) levels,but little is known about their interactions on serum lipid levels.The present study was undertaken polymorphismsand alcohol consumption on serum lipid levels.Methods A total of 516 unrelated nondrinkers and 514 drinkers aged 15 -89 were randomly selected from our previous stratified randomized cluster samples.Genotyping of the ApoA5was performed by polymerase chain reaction and restriction fragment length polymorphism,and then confirmed by direct sequencing.Interactions of the ApoA5alcohol consumption were assessed by using a cross-product term between genotypes and the aforementioned factor.Results The levels of total cholesterol (TC),TG,high-density lipoprotein cholesterol(HDL-C), ApoA1 and ApoB were higher in drinkers than in nondrinkers (P【0.05-0.001).The genotypic and allelic frequencies of the three single nucleotide polymorphisms(SNPs) were not different between the two groups.The levels of TG in non-drinkers, and TC,TG,low-density lipoprotein cholesterol (LDL-C)and ApoB in drinkers were different among the three -1131T】C genotypes(P【0.05-0.001).The -1131C allele carriers had higher serum TC,TG,LDL-C and ApoB levels than the allele noncarriers.The levels of TG,HDL-C and ApoB in nondrinkers,and TG and HDL-C in drinkers were different between the two c.553G】T genotypes(P【0.05-0.01).The C.553T allele carriers had higher serum TG and ApoB levels,and lower HDL-C levels than the allele noncarriers.Serum lipid levels in nondrinkers were not different among the three c.457G】A genotypes(P【0.05 for all), but the levels of HDL-C,LDL-C,ApoA1 and ApoB in drinkers were different between the GG and GA/AA geno-types (P【0.05-0.001).The C.457A allele carriers had lower serum HDL-C,LDL-C,ApoAl and ApoB levels than the allele noncarriers.We also observed four haplotypes:G-G-T, G-G-C,G-A-T,and T-G-C with frequencies ranging from 0.06 to 0.87,representing 100%of all haplotypes in the both populations.The ApoA5 haplotypes were significantly(P【0.05) associated at the global level with TC,TG,HDL-C, LDL-C,Apo1,and ApoB,even after correction for multiple testing with permutation test.In particular,carriers of haplo-type G-G-C had significantly higher TC,TG,LDL-C,ApoB than noncarriers,whereas carriers of haplotype C-A-T had significantly lower TC,LDL-C,ApoAl and ApoB,and higher HDL-C than noncarriers.Serum TC levels in nondrinkers were correlated with -1131T】C genotype and allele(P【0.05 for each),whereas serum TC,TG and LDL-C levels in drinkers were associated with -1131 T】C and C.553G】T genotypes,or c.457G】A alleles(P【0.05-0.001).Serum lipid parameters were also correlated with several environmental factors in the both groups.Conclusions The differences in serum lipid profiles between the drinkers and nondrinkers might partly result from different interactions of ApoA5 gene polymor phisms and alcohol consumption.genotypes and -1131T】C, c.553G】T and c.457G】A to detect the interactions of the ApoA5
文摘BACKGROUND:Genetic variations of the 5-lipoxygenase activating protein and leukotriene A4 hydrolase genes that confer an increased risk of ischemic stroke have implicated the family of leukotrienes as potential mediators of ischemic stroke.This study aimed to explore the association of ALOX5,LTA4 H and LTC4 S gene polymorphisms with ischemic stroke risk in a cohort of Chinese in east China.METHODS:This case-control study consisted of 690 patients with ischemic stroke and 690 controls.Polymorphisms of ALOX5 rs2029253 A/G,LTA4 H rs6538697 T/C,and LTC4 S rs730012 A/C were genotyped by the polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP) analysis.The multivariate logistic regression model was used to exclude the effects of conventional risk factors on ischemic stroke.RESULTS:Carriers of C allele in rs730012 were more susceptible to ischemic stroke(OR:1.37;95%CI:1.08-1.73;P=0.009).The rs2029253 GG genotype showed a risk-reducing effect on ischemic stroke(OR:0.72;95%CI:0.55-0.93;P=0.013) while the rs6538697 CC genotype had an increased risk of ischemic stroke(OR:1.77;95%CI:1.09-2.89;P=0.022).The rs730012 variant was not associated with ischemic stroke risk after adjusting confounding factors(P>0.05).CONCLUSION:The present study suggested that gene polymorphisms in the leukotrienes pathway may exert influences,with independent genetic effects,on ischemic stroke susceptibility in a cohort of Chinese in east China.
基金Fund Project:Traditional Chinese Medicine Research Project of Hubei Provincial Health Commission(ZY2019F025)the Clinical Research Supported by Wu Jieping Medical Foundation(No.320.6750.17566)。
文摘Spinal tuberculosis,as one of the most serious forms of extrapulmonary tuberculosis,is one of the primary causes of spinal deformity and paralysis in developing countries.It immensely affects people's quality of life with high incidences of deformity and disability.The onset of spinal tuberculosis is related to many factors such as gender,age,environment,habits and hereditary factor.As a genetic factor,gene polymorphism plays an important role in the occurrence and development of tuberculosis.This article reviews the research progress of the susceptibility of spinal tuberculosis and its related gene polymorphisms,in order to provide reference for early prevention and treatment of spinal tuberculosis.
基金Supported by Gauhati University,Guwahati,Assam,India
文摘AIM:To investigate hepatitis virus, genetic and environmental factors, and their interactions in predisposing patients to liver diseases in Northeast India. METHODS:A total of 104 jaundice patients and 124 community controls were included. Serological analysis was performed by routine enzyme-linked immunosorbent assay, and nucleic acid testing for hepatitis viruses was done by polymerase chain reaction (PCR), followed by PCR direct sequencing for viral genotyping. Cytochrome P450 2E1 (CYP2E1) polymorphism was studied by PCR-restriction fragment length polymorphism. Nitrite and volatile nitrosamines in indigenous foods consumed routinely by the Northeast Indian ethnic population were estimated by Griess’s reagent and GC-MS, respectively.RESULTS: Hepatitis A virus (HAV) infection was predominantly prevalent (36.5%) in our cohort, followed by hepatitis B virus (HBV), hepatitis E virus (HEV) andhepatitis C virus. HBV genotype D and HEV genotype 1 were the most dominant. CYP2E1 c1/c2 genotype frequency was comparatively higher in alcoholic (P<0.0001,OR =30.5) and cryptogenic (P=0.014, OR=8.714) patients, and was associated with significantly higher hepatitis risk (P=0.0.007,OR=6.489). Mutant C allele of Cyp2E1 DraⅠ frequency was comparatively higher in HAV (P=0.006), alcoholic (P =0.003) and cryptogenic (P=0.014) cases, and was associated with overall hepatitis risk (P=0.026, OR=5.083). Indigenous foods, Gundruk, Kharoli, betel leaf and nuts were found to have the highest nitrite content. CONCLUSION: Apart from viral factors, CYP2E1 polymorphism might be associated with increased risk of liver diseases in Northeast India. Indigenous foods that contain nitrite and nitrosamine might be an associated risk factor.
基金The authors of this review were supported by the National Natural Science Foundation of China(81971201)the National Science Foundation of Hunan Province(2019J40450).
文摘In recent years,many studies have investigated the correlations between Parkinson's disease(PD)and vitamin D status,but the conclusion remains elusive.The present review focuses on the associations between PD and serum vitamin D levels by reviewing studies on the associations of PD with serum vitamin D levels and vitamin D receptor(VDR)gene polymorphisms from PubMed,Web of Science,Cochrane Library,and Embase databases.We found that PD patients have lower vitamin D levels than healthy controls and that the vitamin D concentrations are negatively correlated with PD risk and severity.Furthermore,higher vitamin D concentrations are linked to better cognitive function and mood in PD patients.Findings on the relationship between VDR gene polymorphisms and the risk of PD are inconsistent,but the Fokl(C/M)polymorphism is significantly linked with PD.The occurrence of Fokl(CT)gene polymorphism may influence the risk,severity,and cognitive ability of PD patients,while also possibly influencing the effect of Vitamin D3 supplementation in PD patients.In view of the neuroprotective effects of vitamin D and the close association between vitamin D and dopaminergic neurotransmission,interventional prospective studies on vitamin D supplementation in PD patients should be conducted in the future.
文摘Various polymorphisms in cytokine genes have recently been investigated as candidate risk factors in allogeneic hematopoetic stem cell transplantation(allo-HSCT).We retrospectively analyzed specific polymorphisms in genes for interleukin(IL)-10,IL-6,tumor-necrosis factor alpha(TNF-α)and interferon gamma(IFN-c)in a pediatric cohort of 57 histocompatibility leucocyte antigen(HLA)-identical sibling myeloablative transplants.Both recipient and donor genotypes were tested for association with graft-versus-host disease(GVHD)by statistical methods including Cox regression analysis.We found a significant association between the IL-10 promoter haplotype polymorphisms at positions-1082,-819 and-592 with the occurrence of severe(grades Ⅲ–Ⅳ)acute GVHD(aGVHD).Recipients with the haplotype GCC had a statistically significant decreased risk of severe aGVHD(hazard risk(HR)50.20,95% confidence interval(CI):0.06–0.67)in comparison with patients with other IL-10 haplotypes(P50.008).Transplant-related mortality at 1 year was significantly lower in recipients with this haplotype(HR50.17,95% CI:0.012–0.320)versus other IL-10 haplotypes(P=0.03),whereas overall survival was not influenced by IL-10 haplotype polymorphisms.In multivariate analysis,the presence of the IL-10 GCC haplotype was found as the only variable associated with a statistically significant decreased hazard of severe aGVHD development(P=0.02,HR50.21,95% CI:0.05–0.78).These results suggest that pediatric patients possessing the IL-10 GCC haplotype may be protected from the occurrence of severe aGVHD in the setting of matched sibling HSCT.
基金supported by the Northern Portugal Regional Operational Programme(NORTE 2020)the Portugal 2020 Partnership Agreement,through the European Regional Development Fund(FEDER)(NORTE-01-0145-FEDER-000013)the Fundacao para a Ciencia e Tecnologia(FCT)(IF/00735/2014 to AC and SFRH/BPD/96176/2013 to CC).
文摘Genetic factors and gene polymorphisms leading to the onset of autoimmune response in autoimmune hepatitis(AIH)are still not full elucidated.Since the CTLA-4 molecule is a key modulator of the lymphocytes responses we hypothezied that deficiencies or mutations in the gene encoding CTLA4 protein may be involved in AIH susceptibility and trigger the autoimmune response.We investigated 3 distinct polymorphic sites(t49A>G,CT60 G>A and e318C>T)of the CTLA4 gene in 50 AIH patients and 100 healthy controls using the KASP genotyping technology.A significant positive association with AIH susceptibility was found for the GG genotype in t49 position of the CTLA4 gene which was significantly higher in AIH patients compared to controls(28%vs 9%,pZ0.003,ORZ3.93[1.56e9.88]).The CTLA4 A/A genotype in position CT60 was more significantly frequent in controls comparing to AIH patients and could be considered as a protective genotype for the tunisian patients.CTLA4 genotyping in position318 did not show any statistically significant difference in genotype or allele distribution.The CTLA4 gene polymorphism in position t49 is associated to AIH susceptibility in the Tunisian population.Mutation in the CTLA4 gene may lead to a modification of the CTLA4 protein structure that could have functional relevance in AIH pathogenesis and onset.
基金supported by the National Natural Science Foundation of China(Grant No.90209049).
文摘This study examined the inhibitory effect of triptolid(TP)on tumor necrosis factor-α(TNF-α)secreted from peripheral blood monocular cells(PBMCs)and the association of the inhibitory effect with TNF-α-308 gene polymorphisms in rheumatoid arthritis(RA)patients.Gene polymorphism at A-G site 308 in the promoter region of TNF-αgene was detected in 42 RA patients by using allele specific polymerase chain reaction(AS-PCR)assay.PBMCs were harvested from these patients and treatedfirst with lipopolysaccharides(LPS)and then with different doses of TP(1,5.4 and 15 ng/mL).The TNF-αlevel in the supernatants was measured by enzyme-linked immuno-sorbent assay(ELISA).The results showed that TNF-αlevel in the supernatants of TP(1 ng/mL)-treated PBMCs was decreased by 3.80%and 4.91%,respectively,in the patients with AA and AG genotypes,when compared with those treated with LPS alone(P>0.05).Moreover,the TNF-αlevel in the patients with GG genotype was reduced by 20.74%(P<0.05).When PBMCs were treated with TP at 5.4 ng/mL,TNF-αlevels in the patients with AA,AG,and GG genotypes were decreased by 20.42%,34.73%,and 41.69%,respectively(P<0.05).The TNF-αlevel was slightly higher in the PBMCs treated with 15 ng/mL of TP than those in the two TP groups in the patients carrying AA,AG,and GG genotypes(P>0.05).It was concluded that gene polymorphism at TNF-α-308 sites may relate to the secretion of TNF-αin RA patients.TP has different inhibitory effects on the secretion of TNF-αin the patients harboring different genotypes,which may be one of the reasons for individual variation in response to TP.
基金Central South University Clinical Data System for Pulmonary Inflammatory Diseases.
文摘Background:Chronic obstructive pulmonary disease(COPD)is a leading cause of morbidity and mortality worldwide.Genome-wide association studies in non-Asian population revealed a link between COPD and mutations in the PTCH1 gene encoding Patched1,a receptor in the Hedgehog signaling pathway important for lung morphogenesis and pulmonary function.The aim of this study was to investigate the association between PTCH1 polymorphisms and the COPD risk in the Chinese Han population.Methods:We performed a case-control study including 296 patients with COPD and 300 healthy individuals.Single-nucleotide polymorphisms in the PTCH1 gene were identified and genotyped based on the linkage disequilibrium analysis in all participants.Odds ratios(ORs)and 95%confidence intervals(95%CIs)were estimated using logistic regression analysis after adjustment for age,gender,and smoking.Results:In total,28 single-nucleotide polymorphisms were identified in patients with COPD.Among them,"A"allele of rs28491365(OR:1.388,95%CI:1.055-1.827,P=0.018),and"G"alleles of rs10512248(OR:1.299,95%CI:1.021-1.653,P=0.033)and rs28705285(OR:1.359,95%CI:1.024-1.803,P=0.033;respectively)were significantly associated with an increased COPD risk.Genetic model analysis revealed that the"T/T"genotype of rs34695652 was associated with a decreased COPD risk under the recessive model(OR:0.490,95%CI:0.270-0.880,P=0.010),whereas rs28504650/rs10512248 haplotype CG was significantly associated with an increased COPD risk after adjustment for age,gender,and smoking status(OR:6.364,95%CI:1.220-33.292,P=0.028).Conclusions:The study provides a new insight into the role of PTCH1 polymorphisms in the susceptibility to COPD in the Chinese Han population.
基金grants from the National Key Research and Development Program of China(No.2016YFC1301002 and No.2020YFC2004803)National Natural Science Foundation of China Grant(No.81900449).
文摘Background:Interleukin-18(IL18)gene polymorphisms are related to many inflammatory and autoimmune diseases.However,a correlation analysis between IL18-607C/A and-137G/C gene polymorphisms and Takayasu arteritis(TA)is lacking.Methods:This study enrolled 200 patients with TA as the case group and 334 region-,age-,and sex-matched healthy subjects as the control group.We genotyped alleles and genotypes at positions-607 and-137 of the IL18 gene and analyzed the distribution frequencies.Mann-Whitney U test,t test,Chi-squared test and Hardy-Weinberg equilibrium were performed.Results:After adjusting for risk factors,the adjusted odds ratios and 95%confidence intervals at position-607C/A were 0.533,0.391 to 0.880(P=0.010);0.266,0.586 to 1.002(P=0.051);and 0.122,0.552 to 1.420(P=0.613)under the dominant,additive,and recessive models,respectively.For the-137G/C polymorphism,the adjusted odds ratios and 95%confidence intervals were 1.571,1.068 to 2.311(P=0.022);1.467,1.086 to 1.980(P=0.012);and 1.815,0.901 to 3.656(P=0.095)under the dominant,additive,and recessive models,respectively.Moreover,regardless of the model used,we found no statistical difference in distribution frequency between the active and quiescent states of TA for the-607C/A(P=0.355,0.631,and 0.705,respectively)and-137G/C polymorphisms(P=0.205,0.385,and 0.208,respectively).Conclusions:The IL18-607C/A gene polymorphism may decrease the risk of TA,and thus is a protective factor,whereas-137G/C may increase the risk of TA,and thus is a risk factor.However,neither polymorphism was related to activity(active vs.quiescent)of TA.
基金supported by the National Natural Science Foundation of China[grant number 81973038]Science,Technology and Innovation Commission of Shenzhen Municipality,China[grant number JCYJ20200109142446804].
文摘Objective To explore the association of single nucleotide polymorphisms(SNPs)of the vitamin D receptor gene(VDR)with circulating lipids considering gender differences.Methods Of the Han Chinese adults recruited from a health examination center for inclusion in the study,the circulating lipids,25-hydroxyvitamin D(25OHD),and other parameters were measured.The VDR SNPs of Cdx2(rs11568820),Fok1(rs2228570),Apa1(rs7975232),and Taq1(rs731236)were genotyped with a qPCR test using blood DNA samples,and their associations with lipids were analyzed using logistic regression.Results In the female participants(n=236 with dyslipidemia and 888 without dyslipidemia),multiple genotype models of Fok1 indicated a positive correlation of B(not A)alleles with LDLC level(P<0.05).In the male participants(n=299 with dyslipidemia and 564 without dyslipidemia),the recessive model of Cdx2 and the additive and recessive models of Fok1 differed(P<0.05)between the HDLC-classified subgroups,respectively,and Fok1 BB and Cdx2 TT presented interactions with 25OHD in the negative associations with HDLC(P<0.05).Conclusion In the Chinese Han adults included in the study,the Fok1 B-allele of VDR was associated with higher LDLC in females,and the Fok1 B-allele and the Cdx2 T-allele of VDR were associated with lower HDLC in males.The interaction of VD and Fok1 BB or Cdx2 TT in males synergistically decreased HDLC levels.
基金supported by grants from the National Natural Science Foundation of China(No.81170635,81270785).
文摘Background:Henoch-Schönlein purpura(HSP)or IgAassociated vasculitis is related to immune disturbances.Polymorphisms of the heat shock protein 70-2 gene(HSP70-2)and the tumor necrosis factor-αgene(TNF-α)are known to be associated with immune diseases.The purpose of this study was to investigate the likely association of HSP70-2(+1267A/G)and TNF-α(+308A/G)gene polymorphisms with HSP in children.Methods:The polymerase chain reaction restriction fragment length polymorphism method was used to detect the HSP70-2 and TNF-αpolymorphisms in 205 cases of children with HSP and 53 controls;and the association of these polymorphisms with HSP and HSP nephritis(HSPN)was analyzed.Results:The G/G genotypic frequencies at the+1267A/G position of HSP70-2 in the HSP group(22.9%)were signifi cantly higher than those in the healthy control group(9.4%)(χ^(2)=4.764,P<0.05).The frequencies of the A/A,A/G and G/G genotypes of HSP70-2 in patients in the nephritis-free group and the HSPN group showed no statistically significant difference.The A/A genotype frequency at the+308G/A position of TNF-αin the HSP group was 8.3%,which was higher than that in the control group(χ^(2)=6.447,P<0.05).The A allele frequency of TNF-αin the HSP group was higher than that in the control group,with a statistically significant difference(χ^(2)=7.241,P<0.05).Conclusions:The HSP70-2(+1267A/G)and TNF-α(+308G/A)gene polymorphisms were associated with HSP in children.The G/G homozygosity of HSP70-2 and the A/A homozygosity of TNF-αmay be genetic predisposing factors for HSP.
基金a grant from theGreat Program of Inner Mongo-lia Medical College, No.NY2004ZD006
文摘BACKGROUND: The prevalences of hypertension, cerebrovascular diseases, etc. are higher in Mongolian population because of the influence of various factors including genetics, geography, diet, etc. Therefore, it is helpful to develop researches on the genetics of various diseases including hypertension in Mongolian population. OBJECTIVE: To analyze the association between the polymorphism of beta1 adrenergic receptor (β1-AR) gene G1165C (Arg389Gly), an important candidate gene for various diseases of cardiovascular system, and essential hypertension in Mongolian population. DESIGN: A cross-sectional study. SETTINGS: Department of Neurology, the First Affiliated Hospital of Inner Mongolia Medical College; Wulate Houqi Red Cross Society. PARTICIPANTS: The survey was carried out from February 2003 to March 2005. Totally 239 Mongolian residents, whose blood relations of 3 generations were all Mongolians, were selected from Wulate Houqi, Inner Mongolia, and they were all informed with the survey and detected items. Based on the diagnostic standard of hypertension set by WHO in 1999, the subjects were divided into two groups according to the level blood pressure: ① Normal blood pressure group (n=117): systolic blood pressure (SBP) < 140 mm Hg (1 mm Hg =0.133 kPa), diastolic blood pressure (DBP) < 90 mm Hg, and those having histories of cerebrovascular disease, heart disease, diseases of liver, kidney and tiroides, and diabetes mellitus were excluded. ② Essential hypertension group (n=122): including 51 patients with simple high SBP. All the enrolled subjects had no blood relationship with each other, and had no history of miscegenation. METHODS: The body height, body mass, waist circumference and blood lipids were measured routinely, and their habits of smoking and drinking were also investigated. Peripheral venous blood (5 mL) was drawn, the genome DNA was extracted, and the polymorphisms of the β1-AR G1165C (Gly389Arg) genotype were detected with the Sequenom system. Polymerase chain reaction (PCR) experiment and SNP detection were performed in Huada Gene Laboratory of Bejing, then the univariate analysis of variance was applied in the sample comparison among groups, and the chi-square test was used to compare the genotypes and allele frequencies. The odd ratio (OR) and 95% confidence interval (CI) were calculated. MAIN OUTCOME MEASURES: The distributions of β1-AR G1165C (Gly389Arg) genotypes and alleles were observed. RESULTS: All the 239 subjects were involved in the analysis of results, and no one missed. ①Comparison of β1-AR G1165C (Gly389Arg) genotypes and allele distributions: In Mongolian population, the frequencies of CC and GG+GC genotypes at β1-AR G1165C (Gly389Arg) site in the essential hypertension group (72%, 28%) were not significantly different from those in the normal blood pressure group (67%, 33%) (χ2=0.841, P=0.359; OR: 0.773, 95%CI: 0.445-1.342); The frequencies of C and G alleles also had no significant differences between the essential hypertension group (85%, 15%) and the normal blood pressure group (82%, 18%) (χ2=1.136, P=0.287; OR: 0.769, 95%CI: 0.747-1.248). ②The frequencies of CC and GG+GC genotypes at β1-AR G1165C (Gly389Arg) site had no significant differences between the patients with simple high SBP (71%, 29%) and the normal blood pressure group (χ2=0.250, P=0.617; OR: 0.833, 95%CI: 0.408-1.703); The frequencies of C and G alleles were not significantly different between the patients with simple high SBP (86%, 14%) and the normal blood pressure group (χ2=0.670, P=0.413; OR: 0.766, 95%CI: 0.404-1.453). CONCLUSION: In Mongolian population, the distributions of the genotypes and alleles of β1-AR G1165C (Gly389Arg) have no obvious differences between the subjects with normal blood pressure and the patients with essential hypertension (including simple SBP increase), which suggests that G1165C (Glu389Asp) site of β1-AR gene may be not a genetic mark of essential hypertension and simple high SBP in Mongolian population.
文摘The purpose of this study was to analyse polymorphisms of the CAPN1, CAST and MSTN genes and their association with the microstructure of the Musculus longissimus thoracis (MLT) and textural parameters in bulls of the Holstein-Friesian breeds, black-and-white variety. The polymorphisms at the three loci: in position 6536 of the 3’UTR region of the CAPN1 gene, in position 230 of intron 5 in CAST gene, and in position 371 of the promoter region of the MSTN gene were analysed. Given the inconsequential genetic diversity at the analysed CAPN1 and MSTN loci in the animal sample, it was considered unreasonable to perform further statistical analyses aimed at determining associations between polymorphisms in these positions and meat characteristics. Based on an analysis of the CAST gene polymorphism, a significant association with certain histological and textural parameters was identified.
基金the Key R&D Project of the Ministry of Science and Technology,No.2016YFC0901200 and 2016YFC0901205.
文摘BACKGROUND Diabetic kidney disease is one of the common complications of type 2 diabetes(T2D).There are no typical symptoms in the early stage,and the disease will progress to moderate and late stage when albuminuria reaches a high level.Treatment is difficult and the prognosis is poor.At present,the pathogenesis of diabetic kidney disease is still unclear,and it is believed that it is associated with genetic and environmental factors.AIM To explore the relationship between the glucokinase regulatory protein(GCKR)gene rs780094 polymorphism and T2D with albuminuria.METHODS We selected 252 patients(126 males and 126 females)with T2D admitted to our hospital from January 2020 to October 2020,and 66 healthy people(44 females and 22 males).According to the urinary albumin/creatinine ratio,the subjects were divided into group I(control),group II(T2D with normoalbuminuria),group III(T2D with microalbuminuria),and group IV(T2D with macroalbuminuria).Additionly,the subjects were divided into group M(normal group)or group N(albuminuria group)according to whether they developed albuminuria.We detected the GCKR gene rs780094 polymorphism(C/T)of all subjects,and measured the correlation between GCKR gene rs780094 polymorphism(C/T)and T2D with albuminuria.RESULTS Gene distribution and genotype distribution among groups I-IV accorded with the Hardy-Weinberg equilibrium.Genotype frequency was significantly different among the four groups (P = 0.048, χ^(2)= 7.906). T allele frequency in groups II, III, and IV was significantly higherthan that in group I. Logistic regression analysis of the risk factors for T2D with albuminuria showed that the CT +TT genotype (odds ratio = 1.710, 95% confidence interval: 1.172-2.493) was a risk factor.CONCLUSION CT + TT genotype is a risk factor for T2D with albuminuria. In the future, we can assess the risk of individualscarrying susceptible genes to delay the onset of T2D.
