缝隙连接蛋白37基因C1019T多态性与急性心肌梗死易感性的关联研究

ASSOCIATION STUDY BETWEEN C1019T POLYMORPHISM IN THE CONNEXIN37 GENE AND ACUTE MYOCARDIAL INFARCTION IN PATIENTS FROM CANTONESE POPULATION OF CHINA

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 investigate the association between C1019T polymorphism in the connexin37 gene and genetic susceptibility to acute myocardial infarction （AMI） in Cantonese Han nationality population of China. Methods： A total of 283 participants who are biologically unrelated, including 136 patients diagnosed with AMI and 147 healthy control subjects, were genotyped by polymerase chain reaction restriction fragment length polymorphism （ PCR- RFLP） assay and agarose gel electrophoresis. Result： TT, CT and CC genotype frequencies were 16.18%, 39.71% and 44.12% respectively, T and C allele frequencies were 36.03% and 63.97% respectively in AMI group; TT, CT and CC genotype frequencies were 6.12%,28.57% and 65.31% respectively,T and C allele frequencies were 20.41% and 79.59% respectively in control group. T allele frequency in the patient group was obviously higher than that in the control group（OR=2.197, 95CI%=1.507-3.201, P〈0.001）. AMI risk was significantly increased in the individuals of TT and CT genotypes when compared with CC genotype. In comparison with control group, the males and females in AMI group had higher T allele frequencies respectively. Conclusion： Cx37 gene C1019T polymorphism in Cantonese Han nationality population could be one of AMI risk factors, and it is a factor that should be taken into consideration when AMI risk stratification evaluation is under way.