Weedon Michael N
Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK.
Nestle Nutr Inst Workshop Ser. 2013;71:29-38. doi: 10.1159/000342541. Epub 2013 Jan 22.
Despite the high heritability of human growth traits, until recently little was known about the underlying genes and genetic variants which explain normal variation of growth. In the past few years, genome-wide association studies have successfully identified hundreds of genetic variants that are associated with human growth traits. These variants have implicated many novel genes in the regulation of birthweight and pubertal timing through to final adult height, and are providing new insights into the biology of growth. For example, 180 genetic loci have been robustly shown to influence variation in final adult height. Despite this success, the effect sizes of these variants are small and, even in combination, have left the majority of heritable genetic variation of growth traits unexplained. In this review, I discuss the successes of the genome-wide association approach and some of the novel insights into the biology of growth that have come from these studies. I will also discuss what these studies have not told us and what the future holds for genetic studies of human growth.
尽管人类生长性状具有高度遗传性，但直到最近，对于解释生长正常变异的潜在基因和遗传变异仍知之甚少。在过去几年中，全基因组关联研究已成功鉴定出数百个与人类生长性状相关的遗传变异。这些变异涉及到许多新基因在从出生体重和青春期时间到最终成年身高的调节过程中的作用，并且为生长生物学提供了新的见解。例如，已有充分证据表明180个基因位点会影响成年后的最终身高变异。尽管取得了这一成功，但这些变异的效应大小很小，即使综合起来，生长性状中大部分可遗传的遗传变异仍无法得到解释。在这篇综述中，我将讨论全基因组关联方法所取得的成功以及这些研究对生长生物学带来的一些新见解。我还将讨论这些研究尚未告诉我们的内容以及人类生长基因研究的未来走向。
