血压升高：是我们家族的问题吗？原发性高血压的遗传学
Elevated blood pressure: Our family's fault? The genetics of essential hypertension.
作者信息
Natekar Aniket, Olds Randi L, Lau Meghann W, Min Kathleen, Imoto Karra, Slavin Thomas P
机构信息
Aniket Natekar, Randi L Olds, Meghann W Lau, Kathleen Min, Karra Imoto, Thomas P Slavin, The John A. Burns School of Medicine, University of Hawaii, Honolulu, HI 96813, United States.
出版信息
World J Cardiol. 2014 May 26;6(5):327-37. doi: 10.4330/wjc.v6.i5.327.
AIM
To provide an updated review on current genetic aspects possibly affecting essential hypertension (EH), and to further elucidate their role in EH.
METHODS
We searched for genetic and epigenetic factors in major studies associated with EH between Jan 2008-Oct 2013 using PubMed. We limited our search to reviews that discussed mostly human studies, and were accessible through the university online resource. We found 11 genome wide association studies (GWAS), as well as five methylation and three miRNA studies that fit our search criteria. A distinction was not made between genes with protective effects or negative effects, as this article is only meant to be a summary of genes associated with any aspect of EH.
RESULTS
We found 130 genes from the studies that met our inclusion/exclusion criteria. Of note, genes with multiple study references include: STK39, CYP17A1, MTHFR-NPPA, MTHFR-NPPB, ATP2B1, CSK, ZNF652, UMOD, CACNB2, PLEKHA7, SH2B3, TBX3-TBX5, ULK4, CSK-ULK3, CYP1A2, NT5C2, CYP171A, PLCD3, SH2B3, ATXN2, CACNB2, PLEKHA7, SH2B3, TBX3-TBX5, ULK4, and HFE. The following genes overlapped between the genetic studies and epigenetic studies: WNK4 and BDKRB2. Several of the identified genes were found to have functions associated with EH. Many epigenetic factors were also correlated with EH. Of the epigenetic factors, there were no articles discussing siRNA and its effects on EH that met the search criteria, thus the topic was not included in this review. Among the miRNA targets found to be associated with EH, many of the genes involved were also identified in the GWAS studies.
CONCLUSION
Genetic hypertension risk algorithms could be developed in the future but may be of limited benefit due to the multi-factorial nature of EH. With emerging technologies, like next-generation sequencing, more direct causal relationships between genetic and epigenetic factors affecting EH will likely be discovered creating a tremendous potential for personalized medicine using pharmacogenomics.
目的
提供关于当前可能影响原发性高血压（EH）的遗传因素的最新综述，并进一步阐明它们在EH中的作用。
方法
我们使用PubMed在2008年1月至2013年10月期间搜索了与EH相关的主要研究中的遗传和表观遗传因素。我们将搜索范围限制在主要讨论人类研究且可通过大学在线资源获取的综述。我们找到了11项全基因组关联研究（GWAS），以及5项甲基化研究和3项符合我们搜索标准的miRNA研究。对于具有保护作用或负面作用的基因未作区分，因为本文仅旨在总结与EH任何方面相关的基因。
结果
我们从符合纳入/排除标准的研究中发现了130个基因。值得注意的是，有多个研究参考文献的基因包括：STK39、CYP17A1、MTHFR - NPPA、MTHFR - NPPB、ATP2B1、CSK、ZNF652、UMOD、CACNB2、PLEKHA7、SH2B3、TBX3 - TBX5、ULK4、CSK - ULK3、CYP1A2、NT5C2、CYP171A、PLCD3、SH2B3、ATXN2、CACNB2、PLEKHA7、SH2B3、TBX3 - TBX5、ULK4和HFE。遗传研究和表观遗传研究之间重叠的基因如下：WNK4和BDKRB2。发现一些已鉴定的基因具有与EH相关的功能。许多表观遗传因素也与EH相关。在表观遗传因素中，没有符合搜索标准的讨论siRNA及其对EH影响的文章，因此该主题未纳入本综述。在发现与EH相关的miRNA靶点中，许多涉及的基因也在GWAS研究中被鉴定出来。
结论
未来可能会开发遗传高血压风险算法，但由于EH的多因素性质，其益处可能有限。随着诸如下一代测序等新兴技术的出现，影响EH的遗传和表观遗传因素之间更直接的因果关系可能会被发现，这为使用药物基因组学的个性化医疗创造了巨大潜力。
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