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目的:探讨氯离子通道-6基因位点rs3737964单核苷酸多态性与冠心病发生的关系。方法:本研究收集冠心病患者1 193例(冠心病组)和非冠心病1 200例(对照组)。采用修订后的Inter-hearnt调查表进行流行病学调查,应用实时荧光定量多聚酶链反应技术之TaqMan探针法检测所有研究对象氯离子通道-6基因rs3737964位点多态性。结果:研究对象中氯离子通道-6基因多态性位点rs3737964的T和C等位基因的频率分别是10.4%和89.6%,各基因型分布符合Hardy-Weinberg平衡定律(P=0.178)。rs3737964位点基因型TT频率分布在冠心病组(2.3%)明显高于对照组(1.0%),与基因型为CC者相比,基因型为TT者其患冠心病的危险性增加(OR=2.318,95%CI=1.168~4.063,P=0.016 3),调整混杂因素后差异仍有统计学意义(OR=2.925,95%CI=1.287~6.65,P=0.010 4)。分层分析结果显示:rs3737964位点的TT基因型在60岁以上人群中患冠心病的危险性明显增加(调整混杂因素后OR=3.597,95%CI=1.191~10.858,P=0.023 2)。在男性人群中TT型基因型患冠心病的危险性明显增加(OR=3.669,95%CI=1.401~9.608,P=0.008 1)。在吸烟的人群中TT基因型者患冠心病的危险性明显增加,调整混杂因素后差异仍有统计学意义(OR=3.187,95%CI=1.038~9.787,P=0.042 9)。结论:氯离子通道-6基因位点rs3737964多态性可能是罹患冠心病的遗传易感性基因之一,>60岁、吸烟及男性人群中TT基因型者更易患冠心病。
Objective: To investigate the relationship between rs3737964 SNP of chloride ion channel 6 gene and the occurrence of coronary heart disease. Methods: This study collected 1 193 coronary heart disease patients (coronary heart disease group) and non-coronary heart disease 1 200 cases (control group). Epidemiological investigation was conducted by using the revised Inter-hearnt questionnaire. The rs3737964 polymorphism of chloride ion-6 gene in all the subjects was detected by TaqMan probe method using real-time fluorescence quantitative polymerase chain reaction. Results: The frequencies of T and C alleles of rs3737964 in the chloride channel-6 gene polymorphism were 10.4% and 89.6%, respectively. The distribution of genotypes conformed to Hardy-Weinberg equilibrium (P = 0.178). rs3737964 locus genotype TT frequency distribution in coronary heart disease group (2.3%) was significantly higher than the control group (1.0%), compared with the genotype CC, TT genotype of their risk of coronary heart disease increased (OR = 2.318, 95% CI = 1.168-4.063, P = 0.0163). There was still significant difference after adjusting for confounding factors (OR = 2.925, 95% CI = 1.287-6.65, P = 0.0104). Hierarchical analysis showed that TT genotype at rs3737964 was significantly increased in CHD patients (OR = 3.597, 95% CI = 1.191-10.858, P = 0.023 2 after adjusting for confounding factors) in patients over 60 years of age. The TT genotype had a significantly increased risk of coronary heart disease in the male population (OR = 3.669, 95% CI = 1.401 to 9.608, P = 0.008 1). The risk of coronary heart disease was significantly increased in TT genotype among smokers. The differences were still statistically significant (OR = 3.187, 95% CI = 1.038-9.787, P = 0.042 9) after adjusting for confounding factors. CONCLUSIONS: rs3737964 polymorphism at the CH4 locus may be one of the genetic susceptibility genes for coronary heart disease (CHD),> 60 years old. TT genotypes are more susceptible to coronary heart disease in smokers and men.