抑瘤素M受体基因多态性与中国汉族人群扩张型心肌病的相关性  

Association of OSMR gene polymorphisms with dilated cardiomyopathy in a Han Chinese population

作　　者：代小惠 彭瑛[1] 周斌[2] 李春梅[1] 宋慧子 窦青瑜[1] 谢晓川[1] 饶莉[1] Dai Xiaohui , Peng Ying , Zhou Bin, Li Chunmei , Song Huizi , Dou Qingyu , Xie Xiaochuan , Rao Li(Department of Cardiology, West China Hospital （Dai XH, Peng Y, Li CM, Song HZ, Dou QY, Xie XC, Rao L）, Laboratory of Molecular and Translational Medicine, West China Institute of Women and Children＇s Health, West China Second Hospital （Zhou B ）, Sichuan University, Chengdu, Sichuan 610041, China)

机构地区：[1]四川大学华西医院心内科,成都610041 [2]华西第二医院西部妇幼医学研究院分子与转化医学实验室

出　　处：《中华医学遗传学杂志》2018年第2期210-214,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（81270289）

摘　　要：目的探讨抑瘤素M受体（oncostatin M receptor, OSMR）基因单核苷酸多态性（single nucleotide polymorphisms, SNP）与中国汉族人群扩张型心肌病（dilated cardiomyopathy, DCM）易感性及预后的相关性。方法应用TaqMan技术对351例DCM患者和418名正常对照者OSMR基因的rs2292016及rs2278329两个位点进行基因分型，比较两组间基因型及等位基因频率分布的差异；对其中200例患者随访了（49.85±22.52）个月，分析OSMR基因多态性对其预后的影响。结果rs2292016位点的GT基因型增加了DCM的发病风险（OR＝1.45, 95%CI ： 1.09～1.92, P＝0.01），rs2278329位点各基因型及等位基因频率分布在两组间差异无统计学意义。在未接受心脏再同步化治疗的患者中，rs2292016位点的GG基因型为DCM患者不良预后的独立预测因子（HR＝1.69, 95%CI ： 1.11～2.63, P＝0.017）。结论OSMR基因rs2292016位点多态性与DCM的发生发展及预后相关。ObjectiveTo assess the association of polymorphisms of oncostatin M receptor （OSMR） gene with dilated cardiomyopathy （DCM） in a Han Chinese population.MethodsFor 351 DCM patients and 418 healthy controls, two single nucleotide polymorphisms （SNPs） of the OSMR gene, namely rs2292016 （promoter, -100G/T） and rs2278329 （missense, Asp553Asn）, were genotyped with a TaqMan SNP genotyping assay. Two hundred of the patients were also followed up for （49.85 ± 22.52） months.ResultsFor rs2292016, carriers of GT genotype were more likely to develop DCM compared to those with GG and TT genotypes （OR=1.45, 95%CI： 1.09-1.92, P=0.01）. For those who did not receive cardiac resynchronization therapy, the GG genotype of rs2292016 was an independent indicator for poor prognosis （OR=1.69, 95%CI： 1.11-2.63, P=0.017）. No association was found between genotypes of rs2278329 with the susceptibility or prognosis of DCM.Conclusion Polymorphisms of the OSMR rs2292016 locus are related to the development and outcome of DCM.

关 键 词：扩张型心肌病 抑瘤素M受体 单核苷酸多态性 预后 

分 类 号：R542.2[医药卫生—心血管疾病]