Palmert Mark R, Hirschhorn Joel N
Division of Pediatric Endocrinology and Metabolism, Rainbow Babies and Children's Hospital, University Hospitals of Cleveland, USA.
Mol Genet Metab. 2003 Sep-Oct;80(1-2):1-10. doi: 10.1016/s1096-7192(03)00107-0.
The factors that regulate the timing of puberty remain largely elusive, as do the factors that modulate childhood growth and adult height. However, it is clear that these developmental processes are highly heritable--much of the natural variation in growth and timing of puberty is due to genetic variation within the population. In this review, we discuss how recent genetic and genomic advances can be exploited to help understand the genetic regulation of these processes. In particular, we describe how genome-wide linkage scans and association studies, in conjunction with haplotype-based approaches, are potentially useful tools to increase our understanding of these two complex traits. Discovery of the genetic variants that regulate these two traits would expand our understanding of human neuroendocrinology, postnatal development, and the general architecture of complex genetic traits.
调节青春期时间的因素在很大程度上仍然难以捉摸，调节儿童期生长和成人身高的因素也是如此。然而，很明显，这些发育过程具有高度遗传性——生长和青春期时间的许多自然变异是由于人群中的基因变异。在本综述中，我们讨论了如何利用最近的遗传和基因组进展来帮助理解这些过程的遗传调控。特别是，我们描述了全基因组连锁扫描和关联研究，结合基于单倍型的方法，如何成为增进我们对这两个复杂性状理解的潜在有用工具。发现调节这两个性状的基因变异将扩展我们对人类神经内分泌学、出生后发育以及复杂遗传性状总体结构的理解。
