HSPB7基因rs1739843多态性与扩张型心肌病易感性的关系:病例对照和荟萃分析

Association between rs1739843 polymorphism of HSPB7 gene and risk of dilated cardiomyopathy:a case-control and a meta-analysis

目的:全基因组关联研究(GWAS)表明HSPB7基因的单核苷酸多态性(SNPs)与扩张型心肌病(DCM)的易感性相关。本研究的目的是评估HSPB7基因rs1739843与DCM易感性之间的关联。方法:采用MassArray iPLEX进行基因分型,对中国汉族人群(593例DCM患者和513健康人群)进行关联分析,以探讨rs1739843与DCM易感性的关联。荟萃分析是在固定效应和随机效应模型下进行的。结果:DCM组与对照组基因型频率差异无统计学意义(TT:9.69%∶8.81%,TC:35.73%∶37.23%,CC:54.58%∶53.96%,P=0.87)。荟萃分析(包括1 678例DCM患者和3 178名对照者)的结果显示,rs1739843与DCM的易感性无关。结论:HSPB7基因上的rs1739843多态性可能与中国人群的DCM无相关性。

Objective：Recent genome-wide association studies（GWAS）have suggested that single-nucleotide polymorphisms（SNPs）in HSPB7 gene may contribute to individual susceptibility to dilated cardiomyopathy（DCM）.Several studies have attempted to link rs1739843 of HSPB7 to DCM risk;however,the sample sizes of these studies are small and the results are controversial.The purpose of this study was to evaluate the association between rs1739843 with DCM.Method：We aimed to explore the prevalence of polymorphisms of the rs1739843 in the Chinese Han population with DCM.A total of 593 DCM patients and 513 controls were involved in the study,genotyped by MassArray iPLEX platform.Meta-analysis was performed under fixed effect and random effect models whenever appropriate.Result：The frequency of genotypes did not differ significantly between DCM patients and control subjects（TT：9.69% vs 8.81%%,TC：35.73% vs 37.23%,CC：54.58% vs 53.96%,P=0.87）.The meta-analysis including 1,678 DCM patients and 3,178 controls revealed that rs1739843 was not associated with DCM.Conclusion：We did not find the association between rs1739843 polymorphism of HSPB7 gene and risk of DCM in Chinese population.