QKI基因多态位点与四川地区汉族人群冠心病的相关性分析

Association Study between SNPs in the QKI Gene and Coronary Heart Disease in a Sichuan Han Chinese Population

目的研究QKI基因单核苷酸多态性(SNP)位点与四川地区汉族人群冠心病(coronary heart disease,CHD)发病的相关性。方法入选570例CHD患者和735例正常对照(NC)样本,通过病例-对照关联研究方法,选择QKI基因上4个标签SNP(rs7756185、rs6941513、rs7745161、rs7751144),以单碱基延伸(SNa Pshot)方法进行基因分型,并分析其与CHD的相关性。结果 QKI基因4个SNP位点的基因型分布均符合Hardy-Weinberg平衡(P>0.05)。其等位基因频率在CHD组与NC组之间差异有统计学意义(均P<0.01)。通过单倍体型分析发现,这4个SNP位点处于同一个连锁不平衡区域,其风险单倍体型TGGG可以增加CHD易感性0.25倍(P=0.0051),而保护型的单倍体型GACA可降低CHD患病风险31%(P=0.0003)。结论 QKI基因多态性位点与四川地区汉族人群CHD发病显著相关,其保护型等位基因可降低CHD的易感性。

Objective To investigate the association between single nucleotide polymorphisms （ SNPs）in the QKI gene and coronary heart disease （CHD） in a Sichuan Han Chinese population.Methods Four SNPs （rs7756185,rs6941513,rs7745161 and rs7751144） in the QKI gene were genotyped by the SNaPshot method in a cohort composed of 570 patients with CHD and 735normal controls of Han Chinese descent.Results All the genotype frequencies of these SNPs were in Hardy -Weinberg equilibrium （ HWE） （P〉0.05）.We found that these four SNPs were significantly associated with CHD in this cohort （均P〈0.01）.These four SNPs were in the same linkage disequilibrium （ LD） block.The risk haplotype TGGG generated by the four SNPs showed significant associa-tion with CHD （P =0.0051,OR=1.25）,and the protective haplotype GACA also showed significant association with CHD （P =0.0003,OR=0.69） in this cohort.Conclusoin Our results suggest that genetic variants in the QKI gene were significantly associated with CHD in the Sichuan Han Chinese population.