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目的:通过研究MKL1-184C>T基因多态性与中国河南地区汉族人群冠心病之间的关系,探讨冠心病的遗传易感性。方法:采用病例-对照研究的方法,选取彼此无血缘关系的237例冠心病患者作为病例组,164例排除冠心病者作为对照组。采用TaqMan探针法对所有研究对象进行单核苷酸多态性检测。结果:MKL1-184C>T基因多态性分布在各研究组符合Hardy-Weinberg平衡定律。MKL1-184C>T的基因型频率分布在病例组与对照组差异有统计学意义(P=0.003)。病例组T等位基因频率显著高于对照组(21.5%∶11.3%,P=0.000)。Logistic回归分析显示,校正传统危险因素对冠心病的影响之后,CT基因型者患冠心病的风险是CC基因型者的2.241倍(OR=2.241,95%CI:1.219～4.122),TT基因型者患冠心病的风险是CC基因型者的2.477倍(OR=2.477,95%CI:1.011～6.066),至少携带一个T等位基因者(CT或者TT型)患冠心病的风险是CC纯基因型者的2.308倍(OR=2.308,95%CI:1.354～3.936)。结论:MKL1的-184C>T单核苷酸多态性是中国河南地区汉族人群冠心病遗传易感性的一个重要位点,其中T等位基因可能是中国河南地区汉族人群冠心病发生的独立危险因素。
Objective: To investigate the genetic predisposition of coronary heart disease (CHD) by studying the relationship between MKL1-184C> T gene polymorphism and coronary heart disease in Han nationality in Henan Province of China. Methods: A case-control study was performed in 237 cases of coronary heart disease without blood relationship and 164 cases of coronary heart disease as control group. All subjects were tested for single nucleotide polymorphisms using the TaqMan probe method. Results: The distribution of MKL1-184C> T gene polymorphism was in accordance with Hardy-Weinberg equilibrium in each study group. The frequency of genotype distribution of MKL1-184C> T was significantly different between the case group and the control group (P = 0.003). The frequency of T allele in case group was significantly higher than that in control group (21.5%: 11.3%, P = 0.000). Logistic regression analysis showed that the risk of coronary heart disease in patients with CT genotype was 2.241 times (OR = 2.241, 95% CI: 1.219 to 4.122) in CC genotype after correcting the influence of traditional risk factors on coronary heart disease. TT genotype The risk of coronary heart disease was 2.477 times of that of CC genotype (OR = 2.477,95% CI: 1.011 ~ 6.066). The risk of CHD with at least one T allele (CT or TT genotype) was CC pure 2.308-fold (OR = 2.308, 95% CI: 1.354-3.936) of genotypes. CONCLUSION: The -184C> T single nucleotide polymorphism of MKL1 is an important locus of susceptibility to coronary heart disease in Han nationality in Henan Province of China. The T allele may be an independent risk of coronary heart disease in Han nationality in Henan province of China factor.