CYP4F2基因多态性及其单体型与重庆汉族人群冠心病的相关性

目的研究CYP4F2基因多态性及其单体型与重庆汉族人群冠心病的相关性。方法采用聚台酶链反应-限制性片段长度多态性方法,对420例汉族冠心病患者(冠心病组)和412例汉族健康体检者(对照组)CYP4F2基因的3个单核苷酸多态性rs1558139、rs2108622和rs3093166进行基因分型和单体型构建,应用病例对照单体型方法进行相关性分析。结果冠心病组CYP4F2基因rs2108622的CC基因型频率明显高于对照组(60.0% vs46.8%,OR=1.570,95%CJ:1.259～1.958,P<0.05),而rs1558139和rs3093166基因型在两组间分布差异无统计学意义(P>0.05);冠心病组G-T-T单体型频率明显低于对照组(0.219 vs 0.306.OR =1.636.95%CI:0.510～0.793,P<0.01);冠心病组G-T-C单体型频率明显高于对照组(0.183 vs 0.070.OR =2.958.95%CI:2.149～4.071,P<0.01)。结论 CYP4F2基因rs2108622位点CC基因型可能与重庆汉族人群冠心病的发生有相关性;G-T-C单体型可能为重庆汉族人群冠心痛的易感标志;G-T-T单体型可能为重庆汉族人群冠心痛的保护因素。

Association of CYP4F2 gene polymorphism and haplotypes with coronary heart disease in Chongqing Han

Objective To investigate the relation of the polymorphisms and haplotypes of CYP4F2 gene with CHD in Chongqing Han patients. Methods 420 patients with CHD and 412 healthy control subjects were genotyped for 3 single nucleotide polymorphisms(rs1558139, rs2108622, and rs3093166)of the human CYP4F2 gene by polymerase chain reaction and restriction fragment length polymorphism. Results The genotype distribution of the control group and CHD group was in the Hardy-Weinberg equilibrium(all P>0.05). The frequency of CC of rs2108622 in CHD group was higher than that in control group(60.0% vs 46.8%), the difference was significant (OR = 1.570,95% CI: 1.259-1.958, P<0.05). The frequency of G-T-T haplotype was 0.306 in the control group,which was more frequent than that in the CHD group(0.219),the difference was significant (OR=0.636,95% CI: 0.510-0.793, P<0.01). The frequency of G-T-C haplotype was 0.183 in the CHD group, which was more common than that in the control group (0.070),the difference was significant (OR=2.958,95% CI: 2.149-4.071,P<0.01).Conclusion The CC genotype of rs2108622 locus may be associated with CHD in Han population of Chongqing. The G-T-C haplotype of CYP4F2 gene appears to he a useful genetic marker of CHD in Han population of Chongqing, but the G-T-T haplotype of CYP4F2 gene might be a protective factor for CHD in Han population of Chongqing.