吸烟者内皮素-1基因Lys198Asn多态性与冠心病关系的研究

目的探讨吸烟者内皮素-1(ET-1)基因Lys198Asn(G198T)多态性与中国汉族人群冠心病(CHD)的关系。方法将213例吸烟者和192例非吸烟者分为CHD组(198例)和对照组(207例),应用聚合酶链反应-单链构象多态性方法(PCR-SSCP)检测ET-1基因G198T多态性。按吸烟与否分析G198T多态性与CHD的关系。结果当ET-1基因G198T基因型为GG时,吸烟者的调整OR=2.35(95%CI:2.15–6.83,P=0.00);基因型为GT+TT时,不吸烟者的OR=2.05(95%CI:0.98-6.97,P=0.00),吸烟者的OR=5.65(95%CI:2.87–7.65,P=0.03);吸烟者的GT+TT型更可能患冠心病,风险是GG基因型的5.65倍(OR=5.65,95%CI:2.87–7.65,P=0.03)。结论吸烟者ET-1基因G198T多态性与中国汉族人群CHD的发病具有相关性,T等位基因可能是CHD的易感性标志。     

MDM2基因309位点多态性与胃癌易感性的Meta分析

目的用Meta分析的方法定量评估MDM2基因309位点多态性与胃癌的易感性。方法计算机检索Pub Med、EMBASE、中文科技期刊数据库、中国生物医学文献数据库、中国期刊全文数据库、万方数据库。全面检索MDM2基因309位点多态性与胃癌易感性的病例对照研究,采用STATA软件进行统计分析。结果本研究最终纳入8篇病例对照研究进行Meta分析,病例组共纳入胃癌患者2 591例,对照组共纳入健康人群3 555例。Meta分析结果显示携带GG等位基因者患胃癌的风险是携带TT等位基因者的2.06倍(95%CI=1.38~3.07);携带GG等位基因者患胃癌的风险是携带GT等位基因者的1.69倍(95%CI=1.38~2.08);携带G等位基因者患胃癌的风险是携带T等位基因者的1.75倍(95%CI=1.39~2.20)。结论 MDM2基因309位点多态性与胃癌的易感性相关,携带G等位基因者增加了胃癌的发病风险。     

湖北汉族人群T淋巴细胞免疫球蛋白黏蛋白-3基因单体型与变应性支气管哮喘的相关性

目的 分析湖北汉族人群T淋巴细胞免疫球蛋白黏蛋白-3(TIM-3)启动子区-1516G/T和外显子3区4259G/T单核苷酸多态性及其连锁不平衡关系,探讨其构成的单体型与支气管哮喘(简称哮喘)易感性之间的关系.方法 2004年6月至2007年10月采用等位基因特异性聚合酶链反应检测湖北汉族175例哮喘患者(哮喘组)和202名健康者(健康对照组)TIM-3-1516G/T和4259G/T的单核苷酸多态性,计算基因型和等位基因频率、两位点间的连锁不平衡系数(D')值及单体型频率.结果 TIM-3基因-1516G/T基因型GG、GT和TT在健康对照组中分布频率分别为82.7%(167/202)、17.3%(35/202)、0(0/202),哮喘组分布频率分别为82.9%(145/175)、17.1%(30/175)、0(0/175);TIM-3基因4259G/T基因型GG、GT和,TT在健康对照组中分布频率分别为0.5%(1/202)、2.5%(5/202)、97.0%(196/202),哮喘组分布频率分别为0.6%(1/175)、5.7%(10/175)、93.7%(164/175).对照组D'值为1.0,哮喘组D'值为0.9.湖北汉族人群中存在3种单体型(G-G、G-T、T-T),这3种单体型频率在健康对照组分别为1.7%(7/404)、89.6%(362/404)、8.7%(35/404),哮喘组分别为3.4%(12/350)、88.0%(308/350)、8.6%(30/350);3种单体型(G-G、G-T、T-T)与哮喘易感性无相关性(x2值分别为2.15、0.47、0.003,P均＞0.05).结论 TIM-3基因-1516G/T与4259G/T之间存在紧密连锁不平衡关系,G-G、G-T、T-T与哮喘易感性无相关性.但不排除是否与其他种族人群中哮喘易感性相关或与其他过敏性疾病和自身免疫性疾病的易感性相关.     

DNMT3B启动子区SNP(-579G/T)与佳木斯肺癌发病风险的相关性

目的探讨DNMT3B基因启动子-579G/T单核苷酸多态性与佳木斯地区人群肺癌易感性的相关性。方法选取98例肺癌患者及105例健康人的外周血,提取全基因组DNA,运用PCR-RFLP结合DNA测序技术检测DNMT3B基因启动子-579G/T单核苷酸多态性在各组中基因型的分布。结果正常对照组DNMT3B-579G/T基因型GG/GT/TT的频率分别为0/24%/76%,病例组基因型GG/GT/TT分别为0/21%/79%。携带有SNP(-579G/T)G→T转换的个体患肺癌的易感性病例组与对照组相比,未见显著性差异(P=0.991 3,OR=1.003 6,95%CI:0.521 6¹.931 0)。结论 DNMT3B基因启动子区-579G/T多态性位点不能作为佳木斯地区人群肺癌易感性的一个独立风险因素。     

肿瘤坏死因子-α基因多态性与支气管哮喘相关性研究

目的探讨肿瘤坏死因子-α(TNF-α)-308基因多态性与中国汉族支气管哮喘(BA)易感性的关系.方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,检测64例BA患者及80例健康对照者的TNF-α-308基因多态性,用Logistic回归计算其比值比(OR)及95%可信区间(95%CI).结果 TNF-α-308A等位基因在BA组及对照组的频率分别为20.31%、8.75%,两组比较有显著性差异;OR值为2.389,95%CI为1.148～5.638.结论 TNF-α-308基因多态性与中国汉族BA易感性有关.     

内皮型一氧化氮合酶基因多态性与静脉血栓栓塞症相关性的荟萃分析

目的:探讨内皮型一氧化氮合酶(NOS3)基因G894T多态性与静脉血栓栓塞症(VTE)易感性之间的关系。方法:检索PubMed、Embase、中国知网和万方数据库,收集2017年8月以前出版的与G894T多态性和VTE易感性相关的研究资料。用Stata 12.0软件对收集到的数据进行荟萃分析,计算合并的OR值及95%CI,并进行异质性检验、分种族的亚组分析和发表偏倚评估。结果:共入选7篇病例对照研究,包含1 260例病例和1 689例对照。荟萃分析结果显示,NOS3G894T多态性在总人群中与VTE易感性相关:在3种模型下具有统计学意义(T∶G:OR=1.377,95%CI:1.112~1.704;GT∶GG:OR=1.397,95%CI:1.179~1.656;TT+GT:GG:OR=1.415,95%CI:1.201~1.668)。亚组分析结果提示,在中国人和非中国人中NOS3G894T多态性均可增加VTE患病风险。结论:NOS3G894T多态性与VTE易感性相关。     

ADAM33基因T1位点多态性与内蒙古地区蒙、汉民族人群哮喘的相关性研究

目的探讨解整合素-金属蛋白酶33(ADAM33)基因T1位点(rs2280091)不同基因型及等位基因的分布频率与内蒙古地区蒙、汉民族支气管哮喘的关系。方法选用限制性片段长度多态性(PCRRFLP)方法对汉族哮喘患者112例、蒙古族哮喘患者105例进行ADAM33基因多态性的检测,并分别与110例健康汉族和108例健康蒙族进行比较,筛选有意义基因。结果内蒙古地区蒙、汉族人群均可检出T1位点3种基因型(AA、AG、GG),在蒙、汉族支气管哮喘组分布频率分别与健康对照组比较差异有统计学意义(P0.05),汉族哮喘组AG、GG基因型OR值分别为0.183、0.38,蒙古族哮喘组AG、GG基因型OR值分别为0.295、0.851;蒙、汉族支气管哮喘组T1位点等位基因A和G基因频率分别与健康对照组比较差异有统计学意义(P0.05),G等位基因OR值及95%可信区间分别为0.372(0.190-0.729)、0.237(0.111-0.509)。结论内蒙古地区ADAM33基因T1位点基因多态性与内蒙古地区蒙、汉族人群哮喘发病可能相关。     

内皮素1 Lys198AsnT等位基因与冠心病关系的研究

目的 探讨内皮素1（ET-1）Lys198Asn （G198T）基因多态性与汉族人群冠心病的关系.方法 对160例冠心病（CHD）患者和健康对照者80名进行研究.应用ELISA试剂盒检测血清ET-1水平;用聚合酶链反应-引物特异性片断长度多态性（PCR-SSP）方法检测Lys198Asn 基因型,采用非条件多元逐步Logistic回归模型控制混杂因素.结果 冠心病组G198T GT＋TT基因型频率（19.375%）显著高于对照组（5.000%）,差异有统计学意义（χ2＝8.847,P＜0.05）,基因型频率的相对风险分析,GT＋TT基因型患冠心病的风险是GG基因型的4.566倍（OR＝4.566,95%CI：1.68,12.40）;两组等位基因频率差异也有统计学意义χ2＝9.659,P＜0.05,OR＝4.6364,95%CI：1.953～8.052）.冠心病组血清ET-1水平[（27.8±7.3）ng/L]高于对照组[（12.5±8.1）ng/L],差异有统计学意义（P＜0.01）;冠心病组GT＋TT基因型携带者的血清ET-1水平[（33.3±7.9）ng/L]显著高于同组GG基因型者[（24.2±7.5）ng/L,P＜0.01].经Logistic回归分析冠心病的危险因素显示,G198T基因多态性（T等位基因）为冠心病的独立危险因素.结论 ET-1基因Lys198Asn多态性与冠心病的发病具有相关关系,T等位基因可能是冠心病的易感性标志.     

PPARγ基因外显子区多态性与江苏省汉族人群2型糖尿病遗传易感性

目的 探讨江苏省汉族人群PPARγ基因外显子区两个单核甘酸多态性(rs1801282,rs3856806)与2型糖尿病(T2DM)的关系.方法 采用病例对照研究选取新发T2DM 296例,年龄、性别频数匹配的健康对照477名,用PCR-RFLP方法进行两位点多态性检测.结果 PPARγ基因rs3856806位点多态性在病例组与对照组的分布差异有统计学意义(P＜0.05).与携带CC型相比较,携带CT/TT型者患T2DM风险降低.分层分析发现在女性、>50岁、高血压或体重正常群体中,携带CT/TT型者较CC型者患T2DM风险降低[OR值分别为0.33 (95%CI: 0.14,0.76),0.45 (95%CI: 0.23,0.88)、0.59 (95%CI: 0.36,0.95),0.34 (95%CI: 0.13,0.94)].rs1801282位点多态性在病例组和对照组中的分布差异无统计学意义(P＞0.05),但分层分析发现,携带CG(Pro/Ala)型肥胖者较CC型者患T2DM发病风险降低[OR(95%CI)=0.30(0.09,0.90)].结论 PPARγ基因多态性改变可能与江苏汉族人群T2DM遗传易感性有关.     

HHIP基因rs13118928单核苷酸多态性与慢性阻塞性肺疾病易感性的荟萃分析

目的探讨Hedgehog相互作用蛋白(HHIP)基因rs13118928位点单核苷酸多态性与慢性阻塞性肺疾病(COPD)易感性的关联。 方法系统检索PubMed、EMBASE、Web of Science、中国知网和万方五个电子数据库。检索时间为建库到2018年1月5日,根据制定的纳入标准筛选出相关研究文章,提取数据后利用RevMan5.3软件进行统计分析,计算出各种遗传模型下的比值比(OR)和95%的可信区间(95%CI)。 结果本项研究共纳入7篇文献,包括5 157个COPD患者和9 768个健康对照者。荟萃分析结果显示HHIP基因rs13118928多态性在五种遗传模型下均与COPD有显著相关性：A vs. G,OR＝1.14,95%CI,1.08～1.20,P<0.001;AA vs. GG,OR＝1.36,95%CI,1.20～1.55,P<0.001;AG vs. GG,OR＝1.27,95%CI,1.03～1.58,P＝0.030;AA+AG vs. GG,OR＝1.31,95%CI,1.10～1.57,P＝0.003;AA vs. AG+GG,OR＝1.12,95%CI,1.04～1.21,P＝0.002。亚组分析结果显示在亚洲人种和高加索人种中,rs13118928多态性在A vs. G和AA vs. GG遗传模型下与COPD的发生有显著相关性。 结论HHIP基因rs13118928单核苷酸多态性与COPD的发生有显著相关性。A等位基因和AA基因型携带者对COPD有较高的易感性。     

内皮型一氧化氮合酶基因G894T多态性与心肌梗死相关性的Meta分析

目的 采用Meta分析的方法评估内皮型一氧化氮合酶（eNOS）基因G894T多态性与心肌梗死（MI）相关性.方法 按照文献纳入标准制定检索策略后,采用计算机检索PubMed、中国期刊全文数据库和万方数据库中1995年至2012年12月30日间发表的探讨eNOS基因G894T多态性与MI相关性的病例-对照研究,由两名作者独立提取数据及评价方法学质量后,采用RevMan 5.1软件进行Meta分析.结果 最终纳入13个病例-对照研究,共计2264例MI患者,2774例健康对照人群.基于随机效应模型的Meta分析结果显示,eNOS G894T多态性能够显著增加MI的患病风险[T vs.G：OR=1.51,95%CI：1.21～1.89;TT vs.GG：OR=1.99,95%CI：1.21～3.26;GT vs.GG：OR=1.34,95%CI：1.07～1.68;（GT＋TT） vs.GG：OR=1.47,95%CI：1.14～1.88;TT vs.（GG＋GT）：OR=1.80,95%CI：1.13～2.86].亚组分析结果表明这一相关性存在于亚洲人群与急性心肌梗死（AMI）之间,而与非亚洲人群无相关性,与混合MI（AMI和陈旧性MI）间可能存在相关性,漏斗图提示有发表偏倚存在.结论 基于当前的证据,eNOS G894T多态性与MI存在相关性,特别是亚洲人群与AMI.但当前证据尚不能确定eNOS G894T多态性是否是MI的独立危险因素,以及eNOS G894T多态性与陈旧性MI、与非亚洲人群AMI的相关性.     

谷氨酰-半胱氨酸连接酶催化亚基C-129T和修饰亚基G-23T多态性与冠心病的关系

目的 探讨谷氨酰-半胱氨酸连接酶催化亚基（GCLC）C-129T多态性和修饰亚基（GCLM）G-23T多态性与冠心病遗传易感性的关系。方法 采用聚合酶链反应-限制性片段长度多态方法,检测212例冠心病与218例对照的GCLCC-129T和GCLMG-23T基因型分布及差异。结果 冠心病组中GCLC-129T等位基因频率显著高于对照组（P〈0．01）,GCLC-129T的冠心病发病风险是-129C的2．38倍（95％CI：1．25～4．54）。与GCLC-129CC基因型相比,GCLC-129CT基因型的冠心病发病风险显著增加至2．14倍（95％CI：1．08～4．24,P〈0．05）,GCLC-129T等位基因携带者（CT、TT基因型）患冠心病的风险显著增加至2．28倍（95％CI：1．16～4．49,P〈0．05）。冠心病组中GCLM-23T等位基因频率显著低于对照组（P〈0．01）,GCLM-23T的冠心病发病风险是．23G的0．59倍（95％CI：0．42～0．82）。与GCLM-23GG基因型相比,GT、Tr基因型和-23T等位基因携带者（GT、Tr基因型）的冠心病发病风险分别为0．71倍（95％CI：0．47～1．08,P〉0．05）、0．18倍（95％CI：0．06～0．55,P〈0．01）和0．61倍（95％CI：0．42～0．92,P〈0．05）。结论 GCLCC-129T多态性可能是冠心病的一个遗传易感因素,而GCLMG-23T多态性可能是冠心病的一个遗传保护因素。     

Interleukin-17A gene variants and risk of coronary artery disease:a large angiography-based study

Background Recent studies have also revealed that interleukin(IL)-17A plays a key role in atherosclerosis and its complication,but the relationship of its common variants with coronary artery disease(CAD) has not been extensively studied.Methods We systematically screened sequence variations in the IL17A gene and designed an angiog-raphy -based case-controlled study consisting of 1031 CAD patients and 935 control subjects to investigate the association between the selected polymorphisms of IL-17A gene and CAD risk in Chinese Han population.Results Frequencies of IL17A rs8193037 GG homozygote and G allele were significantly higher in the patient group than those in the control group(P<0.001;OR=0.68;95%CI=0.54-0.85).Stratification analysis showed that the IL17A rs8193037 G allele significantly increased the risk of CAD only among male subjects (P=0.001;OR=0.63;95%CI=0.47-0.83).After adjustment for conventional risk factors,binary logistic regression analysis showed that the G allele carriers(GG +AG) had significantly increased CAD risk compared with the AA homozygotes (adjusted P<0.001;OR 0.43;95%CI,0.33- 0.58).ELISA showed augmented IL17A production in plasma of the AMI patients.Conclusions Based on our data,we speculated that the SNP rs8193037 of IL17A gene is significantly associated with CAD risk in Chinese Han population and the rs8193037 G allele which is associated with increased expression of IL17A in AMI patients may be an independent predictive factor for CAD.     

金属硫蛋白2A基因-838G/C多态性与冠心病的关联研究

目的:研究中国江苏汉族人群金属硫蛋白2A(Metallothionein 2A, MT2A)基因-838G/C多态性与冠心病的关联性.方法:采用单荧光标记探针技术,检测287例冠心病患者和226例健康对照者的MT2A基因-838G/C多态性.结果:MT2A基因-838G/C多态性基因型和等位基因频率分布在冠心病组和对照组比较差异有统计学意义(P＜0.05).冠心病组MT2A -838C等位基因频率明显高于对照组(31.4%:24.6%,P=0.016),C等位基因携带者(GC+CC基因型)患冠心病的风险是GG基因型的1.562倍(OR=1.562,95%CI:1.099～2.218,P=0.013),Logistic回归分析显示,携带C等位基因是冠心病的独立危险因素(P＜0.05).冠心病组C等位基因携带者的冠状动脉Gensini积分明显高于非C等位基因携带者(P＜0.05).结论:MT2A基因-838G/C多态性与中国江苏汉族人群冠心病的发生有关联,C等位基因可能是冠心病发病的遗传易感基因,并影响冠状动脉病变的严重程度.     

Relationship between apurinic endonuclease 1 Asp148Glu polymorphism and gastrointestinal cancer risk: An updated meta-analysis

AIM:To evaluate the relationship between apurinic endonuclease 1(APE1) Asp148 Glu polymorphism and the susceptibility to gastrointestinal(GI) cancers.METHODS:We searched Pub Med, ISI Web of Knowledge, and Chinese National Knowledge Infrastructure(CNKI) databases updated on July 15, 2014 for relevant studies.Only case-control studies comparing APE1 Asp148 Glu polymorphism and GI cancer risk were included.We excluded studies reporting only standardized incidence ratios without control groups and those without detailed genotyping data.Meta-analysis was performed on 17 studies involving 4856 cancer patients and 6136 cancer-free controls.Review Manager version 5.1 was used to perform the meta-analysis.The pooled odds ratios(ORs) and 95% confidence intervals(CIs) were estimated under the allele contrast, homozygous, heterozygous, dominant and recessive genetic models.We also conducted subgroup analyses stratified by ethnicity and cancer type.Publication bias was evaluated using Begg's test.RESULTS:The meta-analysis showed a significant association between APE1 Asp148Glu polymorphism and GI cancer risk in three genetic models in the overall population(G vs T:OR=1.18;95%CI:1.05-1.32;TG vs TT:OR=1.28;95%CI:1.08-1.52;TG+GG vs TT:OR=1.32;95%CI:1.10-1.57).Stratified analysis by ethnicity revealed a statistically increased GI cancer risk in Asians(G vs T:OR=1.27;95%CI:1.07-1.51;GG vs TT:OR=1.58;95%CI:1.05-2.38;TG vs TT:OR=1.30;95%CI,1.01-1.67;and TG+GG vs TT:OR=1.38;95%CI:1.07-1.78),but not in Caucasians.Furthersubgroup analysis by cancer type indicated that APE1Asp148Glu polymorphism may contribute to gastric cancer risk.However,Asp148Glu has no significant association with colorectal or esophageal cancer risk in any genetic model.CONCLUSION:This meta-analysis suggests that the APE1 Asp148Glu polymorphism G allele is associated with an increased GI cancer risk,especially in gastric cancer.     

肿瘤坏死因子-α-308位点多态性与东亚人群类风湿关节炎相关性的Meta分析

目的 Meta分析肿瘤坏死因子(TNF)-α-308位点多态性与东亚人群类风湿关节炎(RA)的相关性.方法 在PubMed、Ebsco、中国学术期刊全文数据库(CNKI)、中国生物医学文献数据库(CBM)、万方数据库中查询TNF-α-308位点多态性与东亚人群儿A相关性的文献.用Meta分析的方法分析基因型AA与GG,GA与GG,AA与GG+GA,GA+AA与GG,A与G在RA组与健康对照组中是否存在差异.结果 共纳入4篇文献进入本研究(957例RA患者,1196名健康对照).对总体东亚人群进行Meta分析,发现TNF-α-308A与RA呈负相关[优势比(OR)=0.36,95%可信区间(CI)=0.16～0.80,P=0.01];将人群按照种族分层,发现TNF-α-308A与中国人群RA呈负相关(OR=0.40,95%CI=0.16～1.01,P=0.05).结论 TNF-α-308位点等位基因和基因型与东亚及中国人群RA呈负相关.     

Polymorphisms in the transforming growth factor‐β1 gene and the risk of asthma: A meta‐analysis

Background and objective: Polymorphisms in the transforming growth factor‐β1 (TGF‐β1) gene have been implicated in susceptibility to asthma, but a large number of studies have reported inconclusive results. A meta‐analysis was performed to investigate the association between polymorphisms in the TGF‐β1 gene and asthma susceptibility. Methods: Searches were performed of Medline (Ovid), PubMed, the Chinese Biological Medicine Database (CBM), the Chinese Journals Full‐text Database (CNKI), the Cochrane Library Database and the Web of Science, covering all papers published up to 30 April 2009. Statistical analysis was performed using Revman4.2.8 and STATA10.0 software. Results: Two polymorphisms (?509C/T and 915G/C(G25C)) were investigated in 14 studies, involving 2979 asthma patients and 4941 control subjects. The results showed that individuals carrying the ?509T allele (TT+TC) had a 36% increased risk of asthma, when compared with homozygotes (?509CC) (OR 1.36, 95% CI: 1.12–1.65). However, there was no significant association with risk of asthma in carriers of the 915C allele (GC+CC) compared with 915GG homozygotes (OR 1.05, 95% CI: 0.65–1.70). In a subgroup analysis by ethnicity, the risk of asthma associated with the ?509T allele was significantly elevated among Asians (OR 1.50, 95% CI: 1.04–2.17) but not Caucasians (OR 1.16, 95% CI: 1.00–1.36). In a subgroup analysis by age, the ?509T allele was associated with a significantly elevated risk of asthma among adults (OR 1.45, 95% CI: 1.09–1.92) but not children (OR 1.19, 95% CI: 0.96–1.46). Conclusions: This meta‐analysis suggested that the ?509C/T polymorphism in the TGF‐β1 gene may be a risk factor for asthma. To further evaluate gene–gene and gene–environment interactions between polymorphisms in the TGF‐β1 gene and asthma susceptibility, more studies involving thousands of patients are required.     

Association of Hepatitis A Exposure and TIM-1 with Childhood Allergic Asthma

Background. Hepatitis A virus (HAV) receptor (TIM-1) polymorphism plays an important role in asthma and autoimmune diseases. Objective. To analyze the association of TIM-1 polymorphism and HAV infection with childhood allergic asthma in Southwest China. Methods. TIM-1 exon 4 (157insMTTTVP) and two polymorphism loci, -416G>C and -1454G>A, in the HAV receptor promoter region were studied. Polymerase chain reaction (PCR) was used to test the genotypes of three polymorphism loci among 579 cases of asthma and 524 controls. The HAV infection status was determined in a case-control study with stratified analysis. Results. HAV exposure associated with childhood allergic asthma in the study population was compared with controls (odds ratio (OR) = 0.181, 95% confidence interval (CI) 0.126-0.260, p < .001). The -416G>C polymorphism was associated with asthma (OR = 1.384, 95% CI 1.148-1.669, p < .001), but the insertion variant 157delMTTTVP of exon 4 and the -1454G>A polymorphism were not. Conclusion. Our results indicated that the -416G>C polymorphism of the TIM-1 gene is associated with childhood allergic asthma, providing a better understanding of the pathogenesis of the allergic asthma among children aged below 15 years in Southwest China.     

Association of human SCN5A polymorphisms with idiopathic ventricular arrhythmia in a Chinese Han cohort.

BACKGROUND: Mutations of human cardiac sodium channel alpha subunit gene (SCN5A) have been implicated in risk of various cardiac arrhythmias. The present study aimed to investigate whether SCN5A polymorphism was related to the occurrence of idiopathic ventricular arrhythmia (IVA) in Chinese Han patients. METHODS AND RESULTS: Genotyping for polymorphic variance of SCN5A was performed by polymerase chain reaction and automated gene scan sequencing analysis in 31 unrelated Chinese patients with IVA (IVA group) and 103 healthy controls (control group). The allele frequencies of c.87G>A (p.Ala29Ala) and c.1673A>G (p.His558Arg) were higher in men than in women for control group (p=0.023 and p=0.027, respectively). For women, patients with IVA had higher allele frequency of c.87G>A than controls (0.455 vs 0.198, p=0.013, odds ratio (OR) 3.382), whereas for men, minor allele c.1673A>G was significantly less prevalent in IVA patients compared with controls (0.025 vs 0.175, p=0.017, OR 0.121). Significant difference existed in occurrence of ventricular arrhythmia between female patients with 87GA/AA and those with 87GG genotypes (0.348 vs 0.097, p=0.039, OR 4.978) and between male patients with 1673AA and those with 1673AG/GG genotypes (0.311 vs 0.053, p=0.031, OR 8.143). The frequency of haplotype GG (87G-1673G) was significantly lower in IVA patients than in controls (0.016 vs 0.128, p=0.009, OR 0.109). CONCLUSIONS: The present study indicates that Chinese Han people have significant difference in distribution of 2 single nucleotide polymorphisms (c.87G>A and c.1673A>G) between healthy male and females. The 87A allele might be associated with an increased risk of IVA in females, whereas 1673G allele might have been positively selected because of its protective effects against ventricular arrhythmia in males.