雌激素受体基因多态性与冠心病关系的研究

Association of estrogen receptor gene polymorphisms with coronary heart disease

目的 观察雌激素受体 (ER)基因多态性在中国汉族人群中的分布及其与冠心病 (CHD)的关系。方法 应用聚合酶链反应 (PCR)和限制性片段长度多态性 (RFLP)方法检测 1 35例CHD患者和 1 1 8例正常对照者ER基因型 ,结合血脂水平、选择性冠状动脉造影 (SCA)结果探讨两者间的关系。结果 ER等位基因X、x和P、p频率在冠心病组和对照组分别为 0 1 70、0 830 ,0 1 69、0 831 ;0 2 56、0 744,0 339、0 661。基因型频率分布符合Hardy Weinberg平衡定律。XbaⅠ酶切多态性基因型频率、等位基因频率及结合XbaⅠ和PvuⅡ两个酶切多态性分析在组内、组间比较差异均无显著性 (P >0 0 5) ,且ER基因型间血脂水平、SCA结果在组内比较均无统计学意义 (P >0 0 5)。但是 ,PvuⅡ酶切多态性在正常对照组与CHD组以及心肌梗死组与心绞痛组比较有明显差异 (P <0 0 5)。结论 在CHD人群中存在着ERXbaⅠ和PvuⅡ基因多态性 ,其中XbaⅠ酶切多态性与CHD无相关性 (P >0 0 5) ,而ERPvuⅡ酶切多态性与冠心病有相关性 (P <0 0 5) ,PvuⅡ基因多态性可能是CHD发病的危险因素之一。

Objective To study the distribution of estrogen receptor(ER) polymorphisms in Chinese Han population and the association of the polymorphisms with coronary heart disease(CHD) Methods ER genotyping was performed in 135 CHD patients and 118 controls by using PCR RFLP method The serum lipid levels were also determined Selected coronary angiography(SCA) were performed in 46 CHD patients Results ER allelic frequencies of X,x and P, p alleles were 0 170, 0 830; 0 169, 0 831 and 0 256, 0 744, 0 399, 0 661 in CHD group and control group respectively There was no significant difference in frequencies of allele and genotype in XbaI polymorphism or XbaI with PvuII polymorphisms together between CHD group and control group ( P >0 05). The serum lipid levels and the results of SCA were also not significantly different among genotypes within group However, the distribution of PvuII genotypes was significantly different between the two groups or between myocardial infarction subgroup and angina pectoris subgroup ( P <0 05), respectively Conclusion XbaI polymorphism is not related to CHD, but PvuII polymorphism is associated with CHD and might be a risk factor for CHD