Division of Clinical Epidemiology, Department of Clinical Research and Informatics, National Center for Global Health and Medicine, Tokyo, Japan.
J Hum Hypertens. 2012 Jul;26(7):430-6. doi: 10.1038/jhh.2011.50. Epub 2011 Jun 2.
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 × 10(-6) and 1.85 × 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.
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性。我们进行了当前的复制研究，以评估这些基因座与健康日本男性高血压之间的关联，然后检查了 12 个独立变体的联合效应。总体而言，从两个独立队列中招募了 735 名日本男性。在 12 个基因的 16 个多态性上评估了与高血压的关联，并选择了 12 个多态性来评估联合影响。COMT、ATP2B1、CYP11A1 和 CSK 基因上的多态性与高血压和血压（BP）相关。当前的研究结果还复制了 CYP11B2 和 PTGIS 基因的先前结果。尽管其他变体没有发现显著关联，但我们的结果表明 12 个基因座存在联合影响。携带更多风险等位基因的个体患高血压的风险更高（斜率 P 值=0.002）。血压也随着风险等位基因评分的增加而升高（SBP 和 DBP 的趋势 P 值分别为 7.84×10(-6)和 1.85×10(-5)）。我们的结果证实了高血压或血压与四个基因变异之间的关联。我们还发现了 12 个基因座的显著联合效应。
