内皮素受体基因rs1878406多态性与冠状动脉多血管严重病变的相关性

Association of endotheline receptor gene rs1878406 polymorphism with severe multi-vessel coronary disease

目的对比研究冠状动脉多血管严重病变与单支病变的基因多态性差异，筛选冠状动脉多血管严重病变相关的风险基因型。方法选取接受冠脉造影而确诊冠心病患者553例，其中多血管严重病变患者324例，另选取年龄与性别相匹配的553例非冠心病人为对照组，对比其临床资料，用基因探针技术检查多项冠心病风险基因rs501120、rs899997、rs1878406与rs7173743的单核苷酸多态性（singlenucleotide polymorphism，SNP），调查各基因型在两组人群中的分布差异。结果研究中所有冠心病人群与对照组相比，4个基因位点SNP分布差异均无统计学意义，但在冠心病多支病变组与对照组rs501120与rs1878406的基因型及等位基因分布差异均有统计学意义（P值均〈O．05），而rs7173743、rs899997基因型与其等位基因在冠心病多支病变与对照人群中的差异无统计学意义。多支病变组中rs501120的A等位基因频率，rs1878406的T等位基因频率，均显著高于对照组（P值分别为0．010，0．037）。Logistic回归分析在调整混杂因素后，研究人群中携带rs1878406TT＋TC基因型者发生冠心病多支病变风险显著高于CC基因型者（0R=1．43，95％CI：1．05～2．07，P=0．033）。结论rs501120的G等位基因与rs1878406的T等位基因可能与冠心病严重多支病变的发生显著相关，内皮素受体基因rs1878406TT＋TC基因型可能是冠状动脉多血管严重病变的风险因素。

Objective To assess the association of single nucleotide polymorphisms （SNPs） of endotheline receptor gene with the severity of coronary heart disease （CHD）. Methods A total of 553 CHD patients, including 324 patients with multi-vessel disease based on result of selected coronary angiography, and 553 age-and sex-frequency matched controls were selected. Clinical data were collected. Genotypes of rs501120, rs899997, rs1878406 and rs7173743 were determined with TaqMan-MGB probes. Results The distribution of genotypes of the 4 SNPs showed no significant difference between the two groups. However, the frequency of A allele of rs501120 and T allele of rs1878406 were significantly higher in the CHD group compared with the control group （P〈0.05）. For rs7173743 and rs899997, no significant difference was detected between the two groups. After adjusting for conventional risk factors by logistic regression analysis, the results suggested that the distribution of rs1878406 TT＋TC genotype in severe multi-vessel disease group is significantly higher than that in the control group （OR= 1.43, 95 % CI： 1.05- 2.07, P = 0. 033）. Conclusion The above results suggested that the rs1878406 polymorphism of endotheline receptor gene may serve as a genetic marker for severe multi vessel disease in CHD among ethnic Han Chinese.