Polymorphisms of vascular diseases-related genes in Guangzhou Biobank Cohort Study (in Chinese)

Abstract

OBJECTIVE: To study the polymorphisms of cerebrovascular and cardiovascular disease genes using Taqman single nucleotide polymorphism (SNP) genotyping kits. METHODS: A total of 2000 subjects were recruited from the Guangzhou Biobank Cohort Study (GBCS), and 15 SNPs were detected using Taqman SNP genotyping kits and an ABI 7900HT real time PCR system. The data were tested for the Hardy-Weinberg equilibrium, and then compared with the data of the Chinese population from the International HapMap Project (HapMap_HCN). RESULTS: (1) All genotype data of the 15 SNPs were consistent with the Hardy-Weinberg rules. (2) The significant differences were observed among two SNPs, rs4220 and rs5368 and the HapMap_HCN (rs4220 28.2% vs 17.8%; chi(2) = 4.891, P = 0.028; rs5368 22.1% vs 32.2%, chi(2) = 5.137, P = 0.024). Comparing other gene bank data, such as AFD-CHN-PANEL, the Allele Frequency Database (ALFRED) and JBIC-allele, it would be most likely that our observations represent differences between the Northern and Southern populations in China. CONCLUSION: Such Biobank study provided a useful platform for the study of the role of genetic and environmental determinants on cerebrovascular and cardiovascular disease. 目的 應用Taqman單核苷酸多態性(SNP)分型法檢測廣州生物庫隊列人群心腦血管疾病相關基因的多態性.方法 從廣州生物庫隊列研究(GBCS)中選取2000名研究對象,應用ABI7900HT型熒光定最PCR儀并采用Taqman SNP分型法檢測該人群rs4220、rs5368及rs285等15個心腦血管疾病相關基因多態性.對檢測的基因分型數據采用遺傳平衡定律檢測,并與國際染色體單倍型計劃(HapMap)的中國人群數據進行比較.結果 (1)所有15個SNP的分型數據均滿足遺傳平衡定律;(2)有兩個SNP的分型數據與HapMap的中國人群數據差異有統計學意義(rs4220 28.2%對17.8%,X2=4.891,P=0.028;rs5368 22.1%對32.2%,X2=5.137,P=0.024).對比美國Perlegen公司人類遺傳變異研究(AFD-CHN-PANEL)、美國科學基金會等位基因頻率數據庫(ALFRED)、日本生物信息學協會(JBIC-allele)等多個基因庫數據,造成本研究SNP頻率不同于HapMup的中國人群數據的原因是華南人群在遺傳背景上與北方人群有一定的差異.結論本研究的數據可能更能反映南方人的特性,因此,建立大樣本的廣州人群心腦血管疾病相關基因多態性數據庫以研究基因與環境對心腦血管疾病的影響是必要的.