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Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

机译:全基因组关联研究确定了影响脉压和平均动脉压的六个新位点

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摘要

Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans(1-3). 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 x 10(-8) to P = 2.3 x 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.
机译:在欧洲人中,许多遗传基因位点与收缩压(SBP)和舒张压(DBP)相关(1-3)。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(N = 74,064)和后续研究(N = 48,607)中,我们在全基因组意义上确定了(P = 2.7 x 10(-8)至P = 2.3 x 10(-13))四个新的PP基因座(分别位于CHIC2附近的4q12,PIK3CG附近的7q22.3,NOV的8q24.12和ADAMTS8附近的11q24.3),两个新的MAP基因座(MAP4中的3p21.31和ADRB1附近的10q25.3)和一个与这两个相关的位点最近也与东亚人的SBP相关的性状(靠近FIGN的2q24.3)。对于三个新的PP基因座,SBP的估计效应与DBP相反,与大多数常见的与SBP和DBP相关的变异相反,后者对两个性状均显示出一致的效应。这些发现提示了潜在的血压变化新的遗传途径,其中一些可能会不同地影响SBP和DBP。

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