目的:研究缝隙连接蛋白37(Cx37)基因C1019T遗传多态性与急性心肌梗死(AMI)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)技术结合琼脂糖凝胶电泳,研究136例AMI患者和147例对照者Cx37 C1019T多态性位点的基因型与等位基因分布。结果:病例组TT、CT和CC基因型频率分别为16.18%、39.71%和44.12%,T和C等位基因频率分别为36.03%和63.97%;对照组TT、CT和CC基因型频率分别为6.12%、28.57%和65.31%,T和C等位基因频率分别为20.41%和79.59%。病例组T等位基因频率明显高于对照组(OR=2.197,95CI%=1.507~3.201,P<0.001),与CC基因型比较,TT和CT基因型AMI患病风险显著增加。男性和女性人群中病例组T等位基因频率均高于对照组。结论:Cx37基因C1019T多态性可能是广东汉族人群AMI患病危险因素之一,此多态性位点研究可为AMI个体化一级预防和个体化诊断提供新依据。 Objective: To study the relationship between C1019T genetic polymorphism of Cx37 gene and susceptibility to acute myocardial infarction (AMI). Methods: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and agarose gel electrophoresis were used to study the genotypes of Cx37 C1019T polymorphism in 136 patients with AMI and 147 controls Gene distribution. Results: The frequencies of TT, CT and CC genotypes in case group were 16.18%, 39.71% and 44.12% respectively, and the frequencies of T and C allele were 36.03% and 63.97% respectively. The frequencies of TT, CT and CC genotypes in control group were 6.12%, 28.57% and 65.31%, T and C allele frequencies were 20.41% and 79.59% respectively. The frequency of T allele in case group was significantly higher than that in control group (OR = 2.197, 95% CI = 1.507-3.201, P <0.001). Compared with CC genotype, the risk of AMI in TT and CT genotypes increased significantly. The frequency of T allele in case group was higher in male and female than in control group. CONCLUSION: C1037T polymorphism of Cx37 gene may be one of the risk factors of AMI in Guangdong Han population. The study of this polymorphism site may provide a new basis for individualized primary prevention and individual diagnosis of AMI.