青少年特发性脊柱侧凸的遗传机制研究现状及基因关系图

Advance on genetic mechanism of adolescent idiopathic scoliosis and genetic relationship map

作为青少年特发性脊柱侧凸(AIS)发病的研究热点,遗传机制探索经过候选基因及全基因组关联研究(GWAS)时代后,初步鉴定一些相关基因。综述AIS相关基因研究现状,并初步构建AIS基因关系网络图。在NCBIPubmed数据库和Web of Science中检索"adolescent idiopathic scoliosis"和"gene",分类归纳基因。用String-db构建基因关系图。共识别35个AIS相关基因,将其按病因学假设可分为结缔组织、神经系统活性物质、褪黑素合成与代谢、青春期与生长及功能未知。大部分基因呈现网络关系,其中IL6、ESR1、ESR2、VDR、TGFB1、IGF1可能是AIS遗传机制的重要基因。3个GWAS位点有两个在网络之外,提示新通路。AIS易感基因研究尚初步,需要深入研究,解析机制,鉴定新网络。

Identification of genetic risk factors is the hotspot of adolescent idiopathic scoliosis（AIS）. Through candidate gene approach and genome wide association studies（GWAS）,some genes were preliminary identified. To review AIS related genes,and construct the gene network map of AIS gene. We searched on NCBI Pub Med and Web of Science database using search terms ＂adolescent idiopathic scoliosis＂ and ＂gene＂,to classify induction genes. We then constructed gene diagram using string-db. We found 35 AIS genes relating to connective tissue,nervous system active substances,melatonin synthesis and metabolism,puberty and growth,and genes whose function is unknown. Gene diagram shows that a network relationship between gene and other genes,in which IL6,ESR1,ESR2,VDR,TGFB1,IGF1 gene may as the key gene about AIS＇ genetic mechanism. Two sites of 3 GWAS results outside the network,it is suggesting new pathway that need to be explored. The study about AIS susceptibility gene is still preliminary,requiring in depth research to identify the new networks.