肿瘤坏死因子受体基因多态性与扩张型心肌病遗传易感性的关系

Association of the tumor necrosis factor receptor gene polymorphisms with the genetic susceptibility to dilated cardiomyopathy

目的探讨肿瘤坏死因子受体(TNFR)基因多态性与扩张型心肌病(DCM)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性(PCR-RFLP)的方法检测110例中国四川地区汉族DCM患者(DCM组)和110名健康对照者(对照组)TNFR基因2个单核苷酸多态性(SNP)位点的等位基因以及基因型频率,分析两位点多态性与DCM遗传易感性的关系。结果110例DCM患者中,TNFR2(+676)位点G/G纯合子基因型频率(10.9%)和G等位基因频率(43.6%)均高于对照组,差异有统计学意义(P<0.01);TNFR1(-329)位点基因型以及等位基因频率与对照组比较差别无统计学意义(P>0.05)。结论四川地区汉族人群中未发现TNFR1(-329)基因多态性与DCM易感性有关;TNFR2(+676)位点G等位基因可能与DCM的遗传易感性有关,TNFR2(+676)位点T/G多态由野生型的T转变为G,则其患DCM的风险可能会增加,G/G纯合子基因型个体较易患DCM。

Objective To investigate the association of tumour necrosis factor receptor（TNFR） gene polymorphism with the genetic susceptibility to dilated cardiomyopathy（DCM）.Methods The allele gene frequency and genotypic frequency at two single nucleotide polymorphism（SNP） situs of TNFR in 110 patients with DCM（DCM group） and 110 heathy controls（control group） of han people in Sichuan province were detected by polymerase chain reaction（PCR） and restriction fragment length polymorphisms（RFLP） techniques,and the association of the polymorphisms at two SNP situs with the genetic susceptibility to DCM.Results The frequencies of GG genotype and G allele of TNFR2（＋676） locus were 10.9% and 43.6% respectively in patients with DCM which were higher than those in control group,the difference has statistic significance（P〈0.01）.There was no significant difference in the distribution of genotype for the TNFR1（-329） locus between the DCM group and the control group（P〉0.05）.Conclusions TNFR1（-329） gene polymorphism is not associated with the genetic susceptibility to DCM;The G allele of TNFR2（＋676） locus is possibly correlated with the genetic susceptibility to DCM.People who carries G allele in TNFR2（＋676） locus might have an increased tendency to suffer DCM,individuals with TNFR2（＋676）GG genotype are susceptible to DCM.