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

摘要

Objective To assess the association of polymorphisms of oncostatin M receptor (OSMR)gene with dilated cardiomyopathy (DCM) in a Han Chinese population.Methods For 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.Results For 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.%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.