Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Am J Hypertens. 2011 Apr;24(4):392-400. doi: 10.1038/ajh.2010.218. Epub 2010 Oct 14.
We provide an overview of ongoing discovery efforts in the genetics of blood pressure (BP) and hypertension (HTN) traits. Two large genome-wide association meta-analyses of individuals of European descent were recently published, revealing ~13 new loci for BP traits. Only two of these loci harbor genes in a pathway known to affect BP (CYP17A1 and NPPA/NPPB). Functional variants in these loci are still unknown. Few genome-wide association studies (GWAS) of complex diseases have been published from non-European populations. The study of populations with different evolutionary history and linkage disequilibrium (LD) structure, such as individuals of African ancestry, may provide an opportunity to further narrow these regions to identify the causal gene(s). Several collaborative efforts toward discovery of low-frequency variants and copy number variation for BP traits are currently underway. As evidence for new loci for complex diseases accumulates the assessment of the epidemiologic architecture of these variants in populations assumes higher priority. The impact of public health-relevant contexts such as diet, physical activity, psychosocial factors, and aging has not been examined for most common variants associated with BP.
我们提供了一个正在进行中的血压（BP）和高血压（HTN）特征遗传学研究的概述。最近发表了两项关于欧洲血统个体的大型全基因组关联荟萃分析，揭示了约 13 个新的 BP 特征基因座。这些基因座中只有两个基因座携带有已知影响 BP 的途径中的基因（CYP17A1 和 NPPA/NPPB）。这些基因座中的功能变体尚不清楚。来自非欧洲人群的复杂疾病的全基因组关联研究（GWAS）很少发表。研究具有不同进化历史和连锁不平衡（LD）结构的人群，例如非洲裔个体，可能为进一步缩小这些区域以确定因果基因（s）提供机会。目前正在进行针对 BP 特征的低频变异和拷贝数变异的发现的几项合作努力。随着新的复杂疾病基因座的证据不断积累，评估这些变异在人群中的流行病学结构变得更加重要。与公共卫生相关的因素，如饮食、体力活动、社会心理因素和衰老，尚未对大多数与 BP 相关的常见变异进行研究。
