The combined impact of 12 common variants on hypertension in Japanese men, considering GWAS results
The combined impact of 12 common variants on hypertension in Japanese men, considering GWAS results
复制标题
DOI：
10.1038/jhh.2011.50
复制
发表时间：
2012-07-01
影响因子：
2.7
通讯作者：
Shimbo, T.
中科院分区：
文献类型：
--
作者：
Miyaki, K.;Htun, N. C.;Shimbo, T.
全基因组关联研究已经确定了几个似乎位于高血压易感区域的多态。我们进行了目前的复制研究，以评估这些基因座与健康日本男性高血压的关联，然后检查了12个独立变异的综合影响。总体而言，来自两个独立队列的735名日本男性被招募。对12个基因上的16个基因多态性与高血压的关联进行了评估，并选择了12个基因来评估其联合影响。COMT、ATP2B1、Cyp11a1和CSK基因的多态性被证实与高血压和血压相关。目前的发现也重复了之前对CYP11B2和PTGIS基因的研究结果。虽然没有发现其他变异的显著相关性，但我们的结果表明，12个基因座存在联合影响。携带更多危险等位基因的个体患高血压的风险更高(斜率P=0.002)。血压也随着危险等位基因分数的增加而增加(趋势P分别为7.84×10(-6)和1.85×10(-5)，对于SBP和DBP)。我们的结果证实了高血压或血压与四种基因变异之间的关联。我们还发现这12个基因座存在显著的联合效应。《人类高血压杂志》(2012年)26430436；doi：10.1038/jhh.2011.50；2011年6月2日在线发布
Genome-wide association studies have identified several polymorphisms that appear to be on hypertension-susceptible regions. We performed the current replication study in order to evaluate the association of these loci with hypertension in healthy Japanese males and then examined the combined effect of 12 independent variants. Overall, 735 Japanese men from two independent cohorts were recruited. Association with hypertension was assessed in 16 polymorphisms on 12 genes and 12 were chosen to evaluate the combined impact. Polymorphisms on the COMT, ATP2B1, CYP11A1 and the CSK genes were confirmed to be associated with hypertension and blood pressure (BP). Current findings also replicated previous results for the CYP11B2 and PTGIS genes. Although there were no significant associations found for other variants, our results suggested there was a combined impact for 12 loci. Individuals carrying more risk alleles had a higher risk of hypertension (P for the slope=0.002). Blood pressures also increased in conjunction with an increasing risk allele score (P for trend=7.84 x 10(-6) and 1.85 x 10(-5) for SBP and DBP, respectively). Our results confirmed the associations between hypertension or blood pressure and four gene variants. We also found a significant combined effect of the 12 gene loci. Journal of Human Hypertension (2012) 26, 430-436; doi:10.1038/jhh.2011.50; published online 2 June 2011