中国傣族及蒙古族群体中3个GWAS阳性转录因子基因与高血压的相关性的验证研究

The replication study of association between hypertension and 3 GWAS positive transcript gene in Chinese Dai and Mongolian people

目的在傣族和蒙古族群体中,验证全基因组关联研究(GWAS)筛查出的3个转录因子(CASZ1,RPL6和ZNF652)基因内的4个阳性SNP是否与高血压发病相关。方法采用SNaPshot的方法对这4个GWAS阳性位点(rs880315,rs12046278,rs16948048和rs11066280)进行基因分型,并进行相关位点的单倍型排布分析。在932例傣族及409例蒙古族群体中对这些位点与高血压的相关性进行卡方统计分析。结果在两个研究群体中均未发现这4个SNP与高血压相关联。只在蒙古族男性中发现CASZ1基因内的rs880315位点呈弱阳性(χ2=4.36,P=0.037),但经Bonferroni矫正后其统计学差异消失。结论在傣族及蒙古族中4个GWAS阳性的SNP并无明显证据与高血压相关。与中国汉族不同,中国一些少数民族,可能具有更窄的高血压易感基因变异谱。

Objective： To verify the association between hypertension and 4 GWAS positive SNPs（ rs880315,rs12046278, rs16948048 and rs11066280） which located in three transcript genes（ CASZ1,RPL6 and ZNF652） in Dai and Mongolian people. Method： These 4 SNPs were genotyped by SNaPshot method in 932 Dai and 409 Mongolian people. After got the genotype and corresponding haplotype of these 4SNP,the associations between SNPs and hypertension were tested by χ2method in Dai and Mongolian people. Result： There are no associations between hypertension and these 4 SNPs. Only a weak positive association was found in the male of Mongolian（ χ2= 4. 36,P = 0. 037） and this weak positive association was disappeared when Bonferroni correction was performed. Conclusion： There are no obvious evidences to support that these 4 SNPs are associated with hypertension in Chinese Dai and Mongolian people. Different with Han people of China,some ethnic groups of China maybe have less genetic mutation which could induce the hypertension within these groups.