Recent findings in the genetics of blood pressure and hypertension traits.
Recent findings in the genetics of blood pressure and hypertension traits.
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DOI：
10.1038/ajh.2010.218
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发表时间：
2011-04
影响因子：
3.2
通讯作者：
Heiss, Gerardo
中科院分区：
文献类型：
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作者：
Franceschini, Nora;Reiner, Alexander P.;Heiss, Gerardo
我们提供了正在进行的发现努力在血压（BP）和高血压（HTN）性状遗传学的概述。最近发表的两项大型欧洲血统个体全基因组关联荟萃分析揭示了约13个新的BP性状位点。这些基因座中只有两个在已知影响BP的途径中含有基因（CYP17A1和NPPA/NPPB）。这些基因座的功能变异仍然未知。在非欧洲人群中发表的复杂疾病全基因组关联研究（GWAS）很少。对具有不同进化历史和连锁不平衡（LD）结构的人群的研究，例如非洲血统的个体，可能提供进一步缩小这些区域以确定致病基因的机会。目前正在进行一些针对BP特征的低频变异和拷贝数变异的合作研究。随着复杂疾病新基因座证据的积累，对人群中这些变异的流行病学结构的评估具有更高的优先级。与公共卫生相关的环境（如饮食、身体活动、社会心理因素和年龄）对大多数与BP相关的常见变异的影响尚未得到检验。
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.
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DOI：
10.1161/circgenetics.109.853630
发表时间：
2009-08
期刊：
Circulation. Cardiovascular genetics
影响因子：
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作者：
Franceschini N;Rose KM;Storti KL;Rutherford S;Voruganti VS;Laston S;Göring HH;Dyer TD;Umans JG;Lee ET;Best LG;Fabsitz RR;Cole SA;MacCluer JW;North KE
通讯作者：
North KE
影响因子：
30.8
作者：
Bhangale, Tushar R.;Rieder, Mark J.;Nickerson, Deborah A.
通讯作者：
Nickerson, Deborah A.
影响因子：
15.9
作者：
Alikhani-Koopaei, R;Fouladkou, F;Frey, BM
通讯作者：
Frey, BM
影响因子：
30.8
作者：
Gudbjartsson, Daniel F.;Bjornsdottir, Unnur S.;Stefansson, Kari
通讯作者：
Stefansson, Kari
影响因子：
64.8
作者：
通讯作者：
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