广州生物库队列人群心脑血管病相关基因多态性研究

目的 应用Taqman单核苷酸多态性(SNP)分型法检测广州生物库队列人群心脑血管疾病相关基因的多态性.方法 从广州生物库队列研究(GBCS)中选取2000名研究对象,应用ABI7900HT型荧光定最PCR仪并采用Taqman SNP分型法检测该人群rs4220、rs5368及rs285等15个心脑血管疾病相关基因多态性.对检测的基因分型数据采用遗传平衡定律检测,并与国际染色体单倍型计划(HapMap)的中国人群数据进行比较.结果 (1)所有15个SNP的分型数据均满足遗传平衡定律;(2)有两个SNP的分型数据与HapMap的中国人群数据差异有统计学意义(rs4220 28.2%对17.8%,X~2=4.891,P=0.028;rs5368 22.1%对32.2%,X~2=5.137,P=0.024).对比美国Perlegen公司人类遗传变异研究(AFD-CHN-PANEL)、美国科学基金会等位基因频率数据库(ALFRED)、日本生物信息学协会(JBIC-allele)等多个基因库数据,造成本研究SNP频率不同于HapMup的中国人群数据的原因是华南人群在遗传背景上与北方人群有一定的差异.结论本研究的数据可能更能反映南方人的特性,因此,建立大样本的广州人群心脑血管疾病相关基因多态性数据库以研究基因与环境对心脑血管疾病的影响是必要的.

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

Objective To study the polymorphisms of cerebrovascular and cardiovascular disease genes using Taqman single nucleotide polymorphism (SNP) genotyping kits. MethodsA 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 genotypo 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% ; χ~2 = 4. 891, P = 0. 028 ; rs5368 22. 1% vs 32. 2% ,χ~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.