Department of Health Sciences, University of Leicester, Leicester, UK.
Nat Genet. 2011 Sep 11;43(10):1005-11. doi: 10.1038/ng.922.
Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans. We now report genome-wide association studies of pulse pressure (PP) and mean arterial pressure (MAP). In discovery (N = 74,064) and follow-up studies (N = 48,607), we identified at genome-wide significance (P = 2.7 × 10(-8) to P = 2.3 × 10(-13)) four new PP loci (at 4q12 near CHIC2, 7q22.3 near PIK3CG, 8q24.12 in NOV and 11q24.3 near ADAMTS8), two new MAP loci (3p21.31 in MAP4 and 10q25.3 near ADRB1) and one locus associated with both of these traits (2q24.3 near FIGN) that has also recently been associated with SBP in east Asians. For three of the new PP loci, the estimated effect for SBP was opposite of that for DBP, in contrast to the majority of common SBP- and DBP-associated variants, which show concordant effects on both traits. These findings suggest new genetic pathways underlying blood pressure variation, some of which may differentially influence SBP and DBP.
已有大量遗传位点与欧洲人群的收缩压（SBP）和舒张压（DBP）相关。我们现在报告脉压（PP）和平均动脉压（MAP）的全基因组关联研究。在发现阶段（N = 74064）和随访研究（N = 48607）中，我们在全基因组显著水平（P = 2.7×10(-8) 至 P = 2.3×10(-13)）鉴定出四个新的 PP 位点（4q12 附近的 CHIC2、7q22.3 附近的 PIK3CG、8q24.12 处的 NOV 和 11q24.3 附近的 ADAMTS8）、两个新的 MAP 位点（MAP4 处的 3p21.31 和 ADRB1 附近的 10q25.3）和一个与这两个特征都相关的位点（2q24.3 附近的 FIGN），该位点最近也与东亚人群的 SBP 相关。对于三个新的 PP 位点，SBP 的估计效应与 DBP 的相反，与大多数常见的 SBP 和 DBP 相关变异不同，它们对这两个特征都有一致的影响。这些发现表明了血压变异的新遗传途径，其中一些可能会以不同的方式影响 SBP 和 DBP。
