生长板基因与身材矮小相关性研究进展

Research progress between growth plate gene and short stature

人类的生长是一个复杂的过程,受遗传、激素、营养、炎症和环境等因素的共同影响,其中遗传因素是影响身高的主要因素。传统观念认为,生长激素-类胰岛素样生长因子1轴是调控线性生长的主要因素,然而最近研究表明,与生长板发育有关基因的罕见变异是人类身高变化的主要影响因素,许多被归类为特发性矮小的儿童可能患有单基因缺陷,这为我们对身高的理解提出了新的理念,不再以两种特定的激素为中心,而是以生长板为中心。为更好地理解生长板基因与身材矮小的关系,本文就生长板6个基因IHH、NPPC、NPR2、FGFR3、ACAN、SHOX基因型-表型作一综述,这可能有助于我们找到新的治疗身材矮小的策略。

Human growth is a complex process, which is influenced by inheritance, hormone, nutrition, inflammation and environment, and inheritance is the main factor. Traditionally, the growth hormone-insulin-like growth factor 1 axis is the most important factor in linear growth. However, recent studies have shown that, the main effect on human height variation is caused by rare variations in genes involved in growth plate development. Many of the children classified as idiopathic short stature could instead have monogenic defects, these findings point to a new conceptual framework for understanding that short stature is centred not on two paticular hormones but rather on the growth plate. In order to better understand the relationship between growth plate genes and short stature, this paper reviews the genotype-phenotype of the 6 genes in growth plate, IHH, NPPC,NPR2, FGFR3, ACAN and SHOX, that may eventually help us to develop new treatment strategies of different growth disorders.