摘要目的 探讨中国人群中雌激素受体(ER)α基因Pvu Ⅱ和Xba Ⅰ酶切多态性与冠心病(CAD)的相关性.方法 将2004年4月至2006年12月在中山大学附属第五医院心内科住院的中国南方汉族CAD患者236例为病例组,117例选自健康体检者或同期在我院住院的非CAD患者为对照组,应用聚合酶链反应-限制片断长度多态性(PCR-RFLP)分析的方法,检测CAD组和对照组的ERα基因型,比较其与相关指标的关系.结果 ERα酶切多态性分析结果显示Pvu Ⅱ存在PP、Pp、pp 3种基因型;Xba Ⅰ酶切也可区分出XX、Xx、xx 3型.Pvu Ⅱ多态性中,CAD组P等位基因型频率也显著高于对照组[42.2%(199/472)比33.8%(79/234),P=0.032],pp基因型的高密度脂蛋白水平显著高于P等位基因携带者,两组之间基因型分布差异具有统计学意义(P=0.041),X等位基因在对照组和CAD组分别为16.5%(78/472)和16.2%(38/234),两组基因型和等位基因频率差异均无统计学意义.结论 中国南方汉族人群中ERαPvu Ⅱ酶切多态性与CAD有关,P等位基因可能是CAD独立遗传危险因素;ERα Xba Ⅰ酶切多态性与CAD未发现相关.

abstractsObjective To elucidate the association of estrogen receptor α gene (ERα)Puv Ⅱ and Xba Ⅰ polymorphisms and susceptibility to coronary artery disease (CAD). Methods The subjects were Hans population in southern China,consisting of 236 documented Han patients with CAD treated in the Department of Cardiology,the Fifth Affiliated Hospital of Zhongshan University between April 2004 and December 2006,as the study group,and 117 apparently healthy individuals or contemporary non-CAD patients as the control group. Polymerase chain reaction and restriction fragment length polymorphisms (PCR-RFLP) were used to determine the genotypes of ERα as related to blood lipid level. Results Digested polymorphism analysis showed PP,Pp and pp as genotypes of Pvu Ⅱ,and XX,Xx and xx as genotypes of Xba Ⅰ. The frequency of P allele at Puv Ⅱ site was significantly higher in CAD group than that in the healthy control group[42.2% (199/472) vs 33.8% (79/234),P=0.032]. Subjects with pp genotype showed higher level of high-density lipoprotein as compared with P allele carriers. There was a significant difference in the distribution of Pvu Ⅱ genotypes between two groups (P=0.041). The frequency of X allele was 16.5% (78/472) in the healthy control group vs 16.2% (38/234) in the CAD group. No differences in genotype distribution and allele frequency were found between two groups at Xba Ⅰ site. Conclusions ERα Pvu Ⅱ but not Xba Ⅰ polymorphisms in southern China Hans may be associated with the susceptibility to CAD. P allele may be a genetic risk factor of CAD in this population.