细胞色素氧化酶基因CYP1A1多态性与新疆维吾尔族人群冠心病相关性研究

Association between CYP1A1 genetic polymorphisms and coronary artery disease in Uygur population in Xinjiang, China

目的探讨新疆地区维吾尔（维）族人群细胞色素氧化酶基因CYP1A1多态性与冠心病的关联性。方法使用实时PCR对293例冠心病患者（病例组）和408名健康体检者（对照组）CYP1A1基因单核苷酸多态性（SNPs：rs4886605，rs12441817，rs4646422，rs1048943）进行基因型鉴定。结果维族人群病例组和对照组rs4886605的基因型及等位基因分布的差异均有统计学意义（均P〈0．05）。病例组rs4886605显性模型（CCvs.CT＋TT）基因型频率明显低于对照组。调整混杂因素后logistic回归分析表明，维族人群rs4886605的CC基因型者患冠心病风险明显低于CT＋TT基因型者（总体：OR=0．368，95％CI：0．185～0．530，P=0．018；男性：OR=0．350，95％CI：0．235—0．568，P=0．015）。病例组和对照组rs12441817的基因型及等位基因分布差异均有统计学意义（均P〈0．05）。病例组的rsl2441817显性模型（TT诋CT＋cc）基因型频率明显低于对照组。调整混杂因素后logistic回归分析表明，维族人群rs12441817的TT基因型者患冠心病风险明显低于CT＋CC基因型者（总体：OR=0．253，95％CI：0．231～0．546，P=0．016；男性：OR=0．241，95％CI：0．132～0．478，P=0．002）。结论新疆维族人群CYP1A1基因多态性rs4886605、rs12441817的2个位点与发生冠心病相关。rs4886605的CC基因型、rs12441817的TT基因型可能是该人群发生冠心病的保护因素。

Objective To assess the association between human CYP1A1 gene polymorphisms and coronary artery disease （CAD） among the Uygur population of China. Methods Genotypes of CYP1A1 single nucleotide polymorphisms （SNPs： rs4886605, rs 12441817, rs4646422 and rs1048943） were detected by real-time PCR in 293 CAD patients and 408 controls. Results Among the Uygur group, distribution of genotypes and allele of rs4886605 were both significantly different between CAD and the controls （all P〈0.05）. The dominant model （CC vs. CT＋ TT） of rs4886605 was significantly lower among CAD patients than in controls. Significant differences were retained after the adjustment was made in all the participants （OR=0.368,95%CI： 0.185-0.530, P= 0.018） and in men （OR=0.350, 95% Ch 0.235-0.568, P=0.015）. Distributions of genotypes and allele of rs12441817 were both significantly different between CAD and the controls （all P〈0.05）. The dominant model （TT vs. CT ＋ CC） of rs 12441817 was significantly lower among patients CAD than in controls. Significant difference were retained after the adjustment was made, in total participants （OR=0.253, 95% Ch 0.231-0.546, P=0.016） and in men （0R=0.241, 95% CI： 0.132-0.478, P=0.002）. Conclusion Both rs4886605 and rs12441817 SNPs of the CYP1A1 gene were associated with CAD in the Uygur population of China.