中文摘要：

目的探讨前列环素合酶基因（CYP8A1）单体型与新疆维吾尔族人心肌梗死（MI）的相关性。方法采用聚合酶链反应-限制性片段长度多态性方法，对210例MI患者和206例健康体检者CYP8A1基因的3个单核苷酸多态性（SNP）（rs5602，rs5629和rs45498106）进行基因分型和单体型构建，应用病例对照单体型分析的方法进行相关性分析。结果MI组CPY8A1基因rs5629的CC基因型频率为71.42％，明显高于对照组（61.65％，P=0.035），而rs5602和rs45498106基因型在两组间分布差异无统计学意义；MI组A-C-T单体型频率为0.60％，明显低于对照组（4.02％，P=0.001），但MI组C-T-T单体型频率为7.40％，明显高于对照组（3.31％，P=0.011）。logistic回归分析结果显示，调整吸烟、高血压和高胆固醇血症等因素后发现，rs5629CC基因型（P=0.021，OR=1.665，95％ CI：1.024-2.156）和C-T-T单体型仍是MI的独立危险因素（P=0.011，OR=1.876，95％CI：1.410-3.171）。结论CYP8A1基因rs5629位点CC基因型可能与新疆维吾尔族人MI的发生相关；C-T-T单体型可能为新疆维吾尔族人MI的易感标志；A-C-T单体型可能为新疆维吾尔族人群MI的保护因子。

英文摘要：

Objective To investigate the association between the polymorphisms and haplotypes of prostacyclin synthase gene with MI in Uigur patients in Xinjiang. Methods 210 patients with MI and 206 healthy control subjects were genotyped for 3 SNPs of the human prostacyclin synthase gene by polymerase chain reaction and restriction fragment length polymorphism. Results The genotype distributions of the control group and MI group were in the Hardy-Weinberg equilibrium （ both P〉0.05）. The frequency of CC of rs5629 in MI group was significantly higher than that in controls （71.42% vs. 61.65%, P =0.035）. The frequency of A-C-T haplotype was significantly higher in the control group than that in the MI patients （4.01% vs. 0.60%, P = 0.001）. The frequency of C-T-T haplotype was significantly higher in the MI patients than that in the controls （7. 40% vs. 3.31%, P = 0.011）. Logistic regression analysis showed that, after adjusting hypertension, hyperlipemia and smoking, the CC genotype of rs5629（P=0.021, OR=1.665, 95% CI： 1.024-2.156） and the C-T-T haplotype （P=0.011, OR =1.876, 95% CI： 1.410-3.171） was the independent risk factors for MI. Conclusion The CC genotype of rs5629 and the C-%T haplotype of prostacyclin synthase gene are associated with MI but the A-C-T haplotype of prostacyclin synthase gene might be a protective factor of MI in Uigur population of Xinjiang.