不宁腿综合征风险基因单核苷酸多态性的研究进展

Research progress of single nucleotide polymorphisms of risk gene of restless legs syndrome

不宁腿综合征(RLS)是一种常见的神经系统疾病,成年人患病率为1%~15%。RLS的病因、发病机制及相关的基因治疗目前尚不完全清楚,研究结果显示RLS可能与某些风险基因的多态性相关。全基因组关联研究迄今为止共揭示了该病的7个风险位点,包括MEIS1、BTBD9、MAP2K5/SKOR1、PTPRD、TOX3、NOS1和2p14的基因间区。文中对近年来RLS风险基因单核苷酸多态性的研究进展作了综述。

Restless legs syndrome(RLS)is a kind of common diseases of the nervous system,of which adult prevalence rate is from 1%to 15%.The etiology,pathogenesis and related gene therapy of RLS are not fully understood.Studies have shown that RLS may be associated with the polymorphism of some risk genes.Genome-wide association studies have revealed a total of seven risk sites to date,including MEIS1,BTBD9,MAP2K5/SKOR1,PTPRD,TOX3,NOS1 and 2p14 intergenic regions.This article reviewed the research progress of single nucleotide polymorphisms in RLS risk genes in recent years.