单核苷酸多态性与青少年特发性脊柱侧凸的研究进展

Research Progress of Single Nucleotide Polymorphism and Adolescent Idiopathic Scoliosis

青少年特发性脊柱侧凸(adolescent idiopathic scoliosis,AIS)在全世界范围内的发病率为1%~3%,患病群体基数大,且给患者造成生理和心理的双重痛苦。大量研究表明,遗传因素可能在AIS的发生发展中起重要作用。单核苷酸多态性(single nucleotide polymorphisms,SNPs)与AIS相关性的研究成为近年来医学分子遗传学研究的重点。对AIS易感基因的SNPs进行深入研究,有助于探索AIS预防、诊断和治疗的新策略。就目前基因SNPs与AIS的相关性研究进展作一综述。

The incidence of adolescent idiopathic scoliosis(AIS) worldwide is 1%~3%,the base of the diseased population is large,and it causes both physical and psychological pains to patients. Numerous studies have shown that genetic factors may play an important role in the occurrence and development of AIS. The correlation between single nucleotide polymorphisms(SNPs) and AIS is the focus of medical molecular research in recent years.In-depth research on the SNPs of susceptibility genes will help to explore new strategies for the prevention,diagnosis and treatment of AIS. This article reviews the research advances concerning gene SNPs and AIS susceptibility.