PPAP2B基因单核苷酸多态性与冠心病的关联研究

目的研究PPAP2B基因单核苷酸多态性(SNP)位点与中国汉族人冠心病(CHD)发病的相关性。方法共收集525例CHD患者和650例正常对照(NC),采用病例-对照关联研究的方法 ,选取PPAP2B基因的4个标签SNP,包括已有报道的rs17114036位点,采用单碱基延伸法(SNaPshot)进行基因分型,并分析其与冠心病的相关性。结果 PPAP2B基因4个标签SNP:rs6588635、rs17114036、rs2404715和rs17407790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组间有显著差异(rs6588635P=0.00167、rs17114036P=0.00581、rs2404715P=0.0174、rs17407790P=0.00124)。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,其中风险单倍体型TACC可以增加冠心病易感性0.73倍(P=0.0012),而保护型的单倍体型CGTT可降低冠心病的患病风险47%(P=0.0025)。结论 PPAP2B基因SNP位点与冠心病发病显著相关,其危险等位基因可增加冠心病的易感性。

Genetic Variants in the PPAP2B Gene Were Associated with Coronary Heart Disease in Han Chinese Population

Objective To investigate the association between genetic variants in the PPAP2B gene and coronary heart disease （CHD） in a Han Chinese population. Methods Four single nucleotide polymorphisms （SNPs） in the PPAP2B gene were genotyped by the SNaPshot method in a cohort composed of 525 patients with CHD and 650 normal controls of Han Chinese descent. Results All the genotype frequencies of these SNPs （rs6588635, rs17114036, rs2404715 and rs17407790） were in Hardy-Weinberg equilibrium （HWE） （P〉0.05）. We found that these four SNPs were significantly associated with CHD in this cohort （P=0.00167 for rs6588635, P=0.00581 for rsl7114036, P=0.0174 for rs2404715, and P=0.00124 for rs17407790, respectively）. These four SNPs were in the same linkage disequilibrium （LD） block. The risk haplotype TACC generated by the four SNPs showed significant association with CHD （P=0.0012, OR=1.72）, and the protective haplotype CGTT also showed significant association with CHD （P=0.0025, OR=0.53） in this cohort. Conclusion Our results suggest that genetic variants in the PPAP2B gene increase susceptibility to CHD in the Hun Chinese population.