细胞色素氧化酶基因CYP1A2多态性与新疆汉族和维吾尔族人群冠心病的相关性

Association between CYP1A2 genetic polymorphisms and coronary artery disease in Uygur population in Xinjiang, China

目的探讨新疆地区维吾尔(维)族人群、汉族人群细胞色素氧化酶基因CYP1A2(cytochrome c oxidase P1A2)多态性与冠心病的关联性。方法我们采用两项独立的病例对照研究∶汉族人群389例冠心病患者(病例组)和411名健康体检者(对照组);维族人群293冠心病患者(病例组)和408名健康体检者(对照组)。通过实时PCR对CYP1A2基因单核苷酸多态性(SNPs)rs2069522和rs2472304进行基因分型。结果仅在汉族人群中,SNP1 (rs2069522)基因型的分布在冠心病组和对照组之间差异均有统计学意义(P < 0.05)。而维族人群中未见显著差异。新疆汉族病例组SNP1 (rs2069522)显性模型(CC vs CT + TT)基因型频率显著高于对照组。调整混杂因素后logistic回归分析表明,新疆汉族人群CC基因型患冠心病的风险显著高于CT + TT基因型者(总体:OR = 1.982,95%CI: 1.174~3.236, P < 0.01;男性: OR = 2.671,95%CI: 1.548~4.314, P < 0.01)。结论新疆汉族人群CYP1A2基因中rs2069522的位点与冠心病相关。CC基因型可能是新疆汉族人群而非维吾尔族人群发生冠心病的独立危险因素。

AIM to investigate the correlation between CYP1A2 polymorphism and coronary heart disease in uygur and han populations in Xinjiang province. METHODS The present investigaiton used two independent case-control studies: the han population (389 CHD patients and 411 controls) and the uygur population (293 CHD patients and 408 controls). Single nucleotide polymorphisms (rs2069522, rs2472304) of CYP1A2 were genotyped by real-time PCR. RESULTS Only in the han population, the distribution of SNP1 (rs2069522) genotype was statistically significant between the CHD group and the control group (p < 0.05). There was no significant difference in the uygur population.The genotype frequency of SNP1 (rs2069522) dominant model (CC vs CT + TT) in the case group was significantly higher than that in the control group. Logistic regression analysis after adjusting for confounders showed that the risk of coronary heart disease of CC genotype in xinjiang han population was significantly higher than that of CT + TT genotype (overall: OR = 1.982, 95%CI: 1.174 ~ 3.236, P < 0.01). Male: OR = 2.671, 95%CI: 1.548 ~ 4.314, P < 0.01). CONCLUSION This locus of rs2069522 in CYP1A2 gene of xinjiang han population is associated with coronary heart disease. CC genotype may be a risk factor for CHD in han Chinese rather than uygur.