GPVI与湖北地区汉族人群冠状动脉疾病发生风险的关联研究  

Research on the genetic relationship between GPVI and coronary artery disease in Hubei Han population

作　　者：吴莹莹[1] 唐亮[1] 邓君[1] 刘敬迪 汪清云 程志鹏[1] 胡蓓[1] 杨焰[1] 秦铀[2] 胡豫[1] 

机构地区：[1]华中科技大学附属协和医院血研所,武汉430022 [2]华中科技大学附属协和医院肿瘤中心

出　　处：《临床血液学杂志》2016年第2期197-199,共3页Journal of Clinical Hematology

基　　金：国家自然科学基金(No:81370622;81400099;81202962)

摘　　要：目的:冠状动脉疾病(CAD)是威胁人类健康的主要疾病之一。血小板的活化及其与细胞外基质的粘附在CAD的发生、发展中发挥重要的作用。GPVI基因编码的GPα2β1是一种血小板膜蛋白,通过Ca2+离子通道传导信号引起血小板聚集而形成血栓。湖北地区汉族人群中关于CAD易感基因的分子特征尚不明确。因此,我们开展了编码GPα2β1血小板膜蛋白的GPVI基因与CAD易感性的相关研究。方法:将102例CAD患者GPVI基因的启动子区、外显子区、剪切区及非翻译区进行重测序,查找引起CAD的致病突变;采用病例-对照研究评价c.940C>G(p.Pro314Ala)突变对CAD发生风险的优势比;并用生物信息学工具评价c.430G>A(p.Ala144Thr),c.655C>T(p.Pro219Ser),c.940C>G(p.Pro314Ala)突变的危害性。结果:本研究发现,GPVI c.940C>G(p.Pro314Ala)与CAD不存在明显的相关性(OR=0.984,95%CI 0.746-1.298,P=0.908 94)。结论:本研究发现存在于湖北地区汉族人群中GPVI基因突变体c.940C>G(p.Pro314Ala)可能不是导致CAD患病风险增加的遗传学因素。Objective：Coronary artery disease （CAD） is one of the major diseases that threaten human health. Platelet activation and extracellular matrix adhesion play a significant role in the occurrence and progress of CAD. GPa2β1 coded by GPVI leads to thrombosis through platelet aggregation and Ca2＋ signaling. Molecular character of susceptibility of CAD in Hubei Han population is unknown. Therefore, we carried out a susceptibility research on the association between the gene GPVI encoding GPa2β1 platelet membrane protein and CAD. Method：Genetic mu- tation was identified by direct genomic DNA sequencing in un-translated regions, promoter regions, eight exons and flanking intronic regions of GPVI in 102 CAD patients. The odds ratio of c. 940C^G （p. Pro314Ala） for CAD was measured in a case （CAD patients）-control study. The possible impact of amino acid substitutions c. 430G〉A （p, Ala144Thr） ,c. 655C〉T （p. Pro219Ser） ,c. 940C〉G （p. Pro314Ala） on the structure and function of the GPa2β1 platelet membrane protein were assessed through three bioinformatics tools. Result： GPVI c. 940C〉 G （p. Pro314Ala） was not associated with CAD （OR=0. 984,95%CI 0. 746 to 1. 298,P=0. 908 94）. Conclusion： GPVI c. 940C〉G （p. Pro314Ala） is not a genetic determinant of an increased risk of CAD in Hubei Han population.

关 键 词：冠状动脉疾病 GPVI 基因突变 

分 类 号：R543.3[医药卫生—心血管疾病]