高血压易感基因的分子进化

The evolutionary study of susceptibility genes for essential hypertension

利用家系连锁分析、候选基因法及全基因组关联研究均未能有效发现普通人群的高血压易感基因或位点。遗传学研究表明,人类许多疾病易感性的形成与走出非洲时的环境适应性进化密切相关,这为高血压遗传学研究提供了新思路。文章系统综述了高血压易感基因分子进化研究的理论基础和最新进展,介绍了本研究小组运用分子进化思路在中国汉族人群高血压遗传学研究中的发现,对未来的研究方向进行了展望,以期为高血压和其他疾病的遗传学研究提供参考。

Genetic studies, including familial linkage analysis, candidate gene approach and genome-wide asso-ciation study, to some extent, have failed in detecting confirmative susceptibility genes/loci for essential hypertension （EH） in the general population. Previous genetic studies have suggested that differential susceptibility to many meta-bolic diseases is due to different environmental adaptation patterns during the out-of-Africa expansion, which pro-vides a new strategy for the genetic study of EH. In this review, we introduce the principle and the latest progress of evolutionary study of susceptibility genes for EH. Furthermore, our recent evolutionary screening for EH susceptible genes/loci in Chinese Han population is also summarized. This review is expected to provide useful information for future genetic studies of EH and many other diseases.