Between candidate genes and whole genomes: time for alternative approaches in blood pressure genetics.
Between candidate genes and whole genomes: time for alternative approaches in blood pressure genetics.
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DOI：
10.1007/s11906-011-0241-8
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发表时间：
2012-02
影响因子：
5.6
通讯作者：
Rao DC
中科院分区：
文献类型：
--
作者：
Basson J;Simino J;Rao DC
血压有很大的遗传成分，但到目前为止，只有不到3%的观察到的差异归因于已发现的遗传变异。对罕见的单基因高血压综合征的候选基因研究已经确定了几个改变肾脏钠平衡的基因，而关于原发性高血压的研究并不一致地涉及影响肾脏钠平衡和其他功能的50多个基因。全基因组连锁扫描已经在整个基因组复制了许多数量性状基因座，并且在多个全基因组关联研究中复制了超过50个单核苷酸多态(SNPs)。这些研究提供了相当多的证据表明，上位性和其他交互作用在血压调节的遗传结构中发挥了作用，但候选基因研究对上位性的测试范围有限，全基因组研究的主效应和交互作用的能力都很低。这篇综述总结了迄今为止关于血压的遗传学发现，并提出了有针对性的、基于通路的方法，包括上位性、基因-环境相互作用和下一代测序，以进一步深入研究血压和高血压的遗传解剖。
Blood pressure has a significant genetic component, but less than 3% of the observed variance has been attributed to genetic variants identified to date. Candidate gene studies of rare, monogenic hypertensive syndromes have conclusively implicated several genes altering renal sodium balance, and studies of essential hypertension have inconsistently implicated over 50 genes in pathways affecting renal sodium balance and other functions. Genome-wide linkage scans have replicated numerous quantitative trait loci throughout the genome, and over 50 single nucleotide polymorphisms (SNPs) have been replicated in multiple genome-wide association studies. These studies provide considerable evidence that epistasis and other interactions play a role in the genetic architecture of blood pressure regulation, but candidate gene studies have limited scope to test for epistasis, and genome-wide studies have low power for both main effects and interactions. This review summarizes the genetic findings to date for blood pressure, and it proposes focused, pathway-based approaches involving epistasis, gene-environment interactions, and next-generation sequencing to further the genetic dissection of blood pressure and hypertension.
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