RGS5和ATP1B1基因与原发性高血压的相关性研究

Association between RGS5 and ATP1B1 and essential hypertension

目的探讨中国汉族人群中G蛋白信号调节因子5(RGS5)和ATP1B1基因功能区标签单核苷酸多态性(SNP)与原发性高血压的相关性及变异位点间的交互作用。方法选择启动子、外显子和3’UTR区符合最小等位基因频率在中国北京汉族人群中>5%、R2≥0.80的SNP。对906例原发性高血压患者(EH组)进行SNP位点的基因分型,以性别和年龄与EH组匹配的894名血压正常者作为正常对照组。观察不同基因型和等位基因频率在EH组和对照组中的分布,并采用MDR软件分析各位点之间的交互作用。结果最终3个标签SNP入选。EH组与对照组SNP位点基因型分布和等位基因频率比较差异无统计学意义(P>0.05);由2个基因SNP位点组成的单倍型,在EH组和对照组的分布比较差异也无统计学意义(P>0.05)。交互作用分析显示,2个或3个位点模型比较差异均无统计学意义(P>0.05)。结论3个标签SNP与EH无明显相关性,并且可能不存在交互作用。

Objective To explore the relationship between functional single nucleotide polymorphisms（SNPs）of regulator of G-protein signaling 5（RGS5）and ATP1B1 and essential hypertension,as well as the interaction among genetic variations in Chinese Han populations.Methods Tag-SNPs in promoter,exons and 3＇UTR with minor allele frequency 〉5% in the Chinese Han population in Beijing were selected to capture the common variation in or around this gene with a minimum R^2 of 0.80.Tag single SNPs of RGS5 and ATP1B1 were genotyped in 906 patients with essential hypertension（EH group）and 894 age-and gender-matched normotensive controls（control group）.The allelic frequency and genotype distribution between EH group and control group were analysed.MDR software was employed to analyse the interaction between SNPs selected.Results Three SNPs were selected and genotyped.There was no significant difference in the allelic frequency and genotype distribution between EH group and normal control group（P〉0.05）.Haplotype-based analysis revealed no significant difference for the haplotype distribution between EH group and normal control group（P〉0.05）.There was no significant difference in the interaction model between two and three SNPs analysed by MDR（P〉0.05）.ConclusionThere is no significant association between 3 SNPs selected and EH,and there may be no interactions among them.