中国人群中BTBD9和MAP2K5/SKOR1与不宁腿综合征的关联

Association of BTBD9 and MAP2K5/SKOR1 With Restless Legs Syndrome in Chinese Population.

作者信息

Li Gen, Tang Huidong, Wang Cheng, Qi Xuemei, Chen Jie, Chen Shengdi, Ma Jianfang

机构信息

Department of Neurology and Institute of Neurology, Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.

出版信息

Sleep. 2017 Apr 1;40(4). doi: 10.1093/sleep/zsx028.

DOI:10.1093/sleep/zsx028

PMID:28329290

Abstract

STUDY OBJECTIVES

The aim of the study was to investigate the relationship between genetic factors and primary restless legs syndrome (RLS) in Chinese population.

METHODS

A total of 116 RLS patients and 200 controls were recruited and the diagnosis of RLS was based on the criteria of International RLS Study Group. Polymer chain reaction (PCR) and sequencing were used to detect 19 single nucleotide polymorphisms (SNPs) in six genetic loci (MEIS1, BTBD9, PTPRD, MAP2K5/SKOR1, TOX3, and Intergenic region of 2p14).

RESULTS

Our study found that one SNP increased the risk of RLS in Chinese population: rs6494696 of MAP2K5/SKOR1 (odds ratio [OR] = 0.09, p < .0001, recessive model). A further meta-analysis of RLS in Asian population found that two SNPs of BTBD9 increased the risk of RLS: rs9296249 of BTBD9 (OR = 1.44, p = .000, T allele), rs9357271 of BTBD9 (OR = 1.38, p = .021, dominant model).

CONCLUSION

Our results confirmed the association of BTBD9 and MAP2K5/SKOR1 with primary RLS in Chinese population.

摘要

研究目的

本研究旨在探讨中国人群中遗传因素与原发性不宁腿综合征（RLS）之间的关系。

方法

共招募了116例RLS患者和200例对照，RLS的诊断基于国际RLS研究组的标准。采用聚合酶链反应（PCR）和测序技术检测6个基因位点（MEIS1、BTBD9、PTPRD、MAP2K5/SKOR1、TOX3和2p14基因间区域）中的19个单核苷酸多态性（SNP）。

结果

我们的研究发现，一个SNP增加了中国人群患RLS的风险：MAP2K5/SKOR1的rs6494696（优势比[OR]=0.09，p<.0001，隐性模型）。对亚洲人群中RLS的进一步荟萃分析发现，BTBD9的两个SNP增加了患RLS的风险：BTBD9的rs9296249（OR=1.44，p=.000，T等位基因），BTBD9的rs9357271（OR=1.38，p=.021，显性模型）。