全外显子测序在青少年特发性脊柱侧凸病因学中的研究进展

Research progress of whole exome sequencing in the etiology of adolescent idiopathic scoliosis

青少年特发性脊柱侧凸(adolescent idiopathic scoliosis,AIS)是一种主要发生在青春期的脊柱侧凸亚型,多见于骨骼发育期阶段中的快速发育期[1-3]。据统计,AIS的总发病率为0.47%~5.20%[4-6],在一般人群中的发病率约3.00%[7]。尽管AIS的病因和发病机制尚未确定,但家族遗传与双生子相关研究表明,遗传因素在脊柱弯曲的形成和发展中起着重要作用[8]。众所周知,遗传和环境因素都是导致散发性AIS的原因[9]。全外显子测序技术[10-11]的应用和发展促使研究人员对AIS的病因在病因学层面上进一步发掘和探索,这对AIS患者的预防和治疗具有指导意义。

Adolescent idiopathic scoliosis(AIS)is the most common type of scoliosis.AIS mainly results in distorted body appearance and low organ function.It even oppresses the spinal cord in severe cases,resulting in paralysis of the patient and the need for surgical intervention.It not only seriously affects the patient’s physical and mental health,but also makes the patient’s family and society face a huge economic burden.At present,there have been many studies on adolescent idiopathic scoliosis,but the pathogenesis is still unclear.In recent years,studies on the etiology of AIS emerged one after another from the genetic level with the development of gene detection technology,which established an important role of gene-related theory in the occurrence and development of AIS.Exon sequencing(exome sequencing)is a diagnostic method to identify molecular defects in patients with suspected genetic diseases by capturing and enriching DNA for high-throughput sequencing.This article will review the related research of WES by analyzing its application and limitation in AIS.