Progress and issues of the genome-wide association study for hypertension.

Progress and issues of the genome-wide association study for hypertension.
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DOI:
10.2174/0929867321666141216124537
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发表时间:
2015-02
影响因子:
4.1
通讯作者:
S. Pan;H. Naruse;T. Nakayama
S. Pan;H. Naruse;T. Nakayama
中科院分区:
医学3区
文献类型:
--
作者:
S. Pan;H. Naruse;T. Nakayama

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在过去的几年中,全基因组关联研究(GWAS)的使用使得确定原发性高血压的主要遗传机制成为可能。GWAS结果帮助确定了许多基因中的或基因附近的位点,这些位点通常不被认为与血压或原发性高血压有关。然而,考虑到人们对改善临床结果的巨大期望,以及在各种GWASs上花费的数十亿美元,迄今为止取得的进展一直很缓慢。有几个因素可能导致GWASs相对缺乏成功。首先,有可能是在各种GWASs中注册的人数不够,从而限制了检测其他标记的能力。其次,尽管与风险适度增加相关的等位基因不断被发现,但它们的区分能力和作为预测标记的用途一直很低。在使用GWASs时,控制组选择的困难以及不可重复性也存在问题。本文总结了近年来在使用高血压GWAS识别与原发性高血压相关的许多基因位点方面取得的进展。在这篇综述中,我们讨论了GWAS治疗高血压的进展和问题。
Over the past few years, use of the genome-wide association study (GWAS) has made it possible to identify the primary genetic mechanisms of essential hypertension. GWAS results have helped identify many loci in or near genes that generally were not expected to be associated with blood pressure or essential hypertension. However, considering the great expectations of improving clinical outcomes and the billions of dollars that have been spent on various GWASs, the progress made so far has been slow. There are several factors that could be responsible for the relative lack of success of GWASs. First, it is possible that the number of people enrolled in the various GWASs was not enough, thereby limiting the power to detect additional markers. Second, although the alleles that are associated with a modest increase in risk are constantly being found, their discriminatory ability and use as predictive markers has been quite low. Difficulties with control group selection along with unrepeatability have also been problematic when using GWASs. The current paper summarizes the recent progress attained when using a GWAS of hypertension to identify the many loci associated with essential hypertension. In this review, we discuss the progress and issues of a GWAS for hypertension.