间隙连接蛋白37基因C1019T多态性与冠心病易感性的关联研究

Association of C1019T polymorphism in the connexin37 gene and coronary artery disease in Chinese Han population

目的研究中国北方汉族人群中间隙连接蛋白37(CX37)基因 C1019T多态性与冠心病的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)结合聚丙烯酰胺凝胶电泳(PAGE)技术,检测了514例经冠脉造影确诊的冠心病患者和400例造影正常的健康对照者 CX37基因 C1019T 多态性位点的基因型和等位基因分布。结果 CX37 C1019T基因型(CC 型,TC 型和TT 型)在冠心病组分布频率分别为22.37%,53.31%,24.32%,在对照组为17.75%,46.50%和35.75%(P=0.0007)。C 等位基因频率在冠心病组明显高于正常对照组(49.03%vs 41.00%,OR=1.38,95%可信区间为1.15～1.66,P=0.0006)。C 等位基因携带者(CC+TC)在冠心病组和对照组分别为75.68%和64.25%(P=0.0002)。与 TT 纯合子相比,(CC+TC)基因型冠心病患病风险显著增加(OR=1.73,95%可信区间为1.30～2.30)。对性别进行亚组分析显示,男性人群中冠心病组 C 等位基因频率明显高于对照组(49.37%vs 39.60%,OR=1.49,95%可信区间为1.18～1.89,P=0.0009),C 等位基因携带者(CC+TC)冠心病患病风险是 TT 型的1.96倍(95%可信区间为1.38～2.78),而女性人群中两组间基因分布频率差异无统计学意义(P=0.24)。结论CX37基因 C 等位基因可能与中国北方汉族人群冠心病的发生相关联。

Objective To investigate the association between the eonnexin37 （CX37） C1019T polymorphism and the susceptibility to coronary artery disease （CAD） in northern Hart population of China. Methods A total of 514 CAD patients and 400 healthy controls diagnosed by angiography were genotyped by using polymerase chain reaction-restriction fragment length polymorphism and polyaerylamide gel dectrophoresis. Results The genotype frequencies of CC, TC and TT in the CX37 C1019T polymorphism was 22. 37%, 53.31% and 24. 32% in CAD patients, 17.75%, 46.50% and 35.75% in the controls respectively （ P = 0. 0007 ） . The frequency of the CX37 C allele in CAD patients was significantly higher than that of the control group （49. 03% vs 41.00%, OR = 1.38, 95% CI = 1.15 - 1.66, P = 0. 0006）. The frequency of the C allele carriers （ CC ＋ TC） was 75.68% in the CAD group and 64. 25% in the control group （ P = 0. 0002 ）. Compared with the TY homozygote, the CAD risk was significantly increased in the carriers of C allele （ CC ＋ TC ） （ OR = 1.73, 95% CI = 1.30 - 2. 30 ）. Subsequent stratified analysis revealed that the frequency of C allele was significantly higher in the male CAD patients than in the male controls （49. 37 % vs 39. 60%, OR = 1.49,95 % CI = 1.18 - 1.89, P = 0. 0009 ）. The CAD risk was nearly two-fold increased in the carriers of C allele （ CC ＋ TC） than in the TT homozygote （95% CI = 1.38 - 2.78）. However in the female population, there was no difference in the CAD risk between the carriers of （ C C ＋ TC） type and the TT homozygote（ P = 0. 24）. Conclusion The C allele in the CX37 gene might be associated with the susceptibility to CAD and potentially plays an important role in the manifestation of coronary atherosclerosis among Chinese.