武汉地区人群中CD14单核细胞受体基因启动子区多态性与冠心病的关系

Polymorphism in the promoter of the CD14 monocyte receptor gene as a risk factor for coronary heart disease in a Wuhan population

目的探讨中国武汉地区汉族人群中CD14基因启动子区C(-260)→T多态性与冠心病的关系。方法应用聚合酶链反应限制片段长度多态性(PCR-RFLP)分析技术检测218例冠心病患者(冠心病组)和230例正常人(对照组)CD14基因C(-260)→T多态性。结果CC型、TC型及TT型频率在冠心病组中分别为22%、26%、52%,对照组分别为51%、17%、31%,冠心病组TT型明显高于对照组(52%vs31%)。T等位基因频率在冠心病组与对照组中分别为65%和49%。所有基因型及等位基因频数分布符合Hardy-Weinberg平衡。结论CD14基因C(-260)→T点突变多态性与冠心病发病密切相关,CD14基因启动子区突变纯合子可能是引起冠心病的一个重要的遗传性危险因素。

Obejective To explore whether the C（ -260）→T polymorphism of the CD14 gene constitutes a risk factor for coronary heart disease （CHD） in a Wuhan population.Methods With employing a case-control study design, the CD14 C（ -260）→T polymorphism was evaluated in 218 newly diagnosed inpatients with CHD （cases）, and 230 healthy subjects （controls）. CD14 genotype was determined by polymerase chain reaction PCR-RFLP Hae Ⅲ digestion. Results In CHD patients, the genotype frequencies were as follows： CC 22% ,TC 26% and TT 52%, and in controls, they were 51%, 17% and 31% respectively. The frequency of the TT genotype was significantly higher in the cases than in controls （52% vs 31% ）. The frequency of the T allele （absence of the cutting site） was 65% in cases and 49% in controls. All observed genotype frequencies were in Hardy-Weinberg equilibrium. Conclusions In the patients examined in this study, the C（ - 260）→T polymorphism of the CD14 gene is related to CHD, and in addition to the well-established risk factors, the genetically determined reaction of monocytes/macrophages to infection stimuli may play an important role in the