Genetic Association Study of Restless Legs Syndrome in Chinese Population
Genetic Association Study of Restless Legs Syndrome in Chinese Population
复制标题
中国人群不宁腿综合征的遗传关联研究
DOI：
10.1159/000500416
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发表时间：
2019-01-01
影响因子：
2.4
通讯作者：
Ma, Jianfang
中科院分区：
文献类型：
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作者：
Chen, Jie;Luo, Qi;Ma, Jianfang
背景：近年来的病例对照研究表明，某些候选基因可能与不宁腿综合征（restless legs syndrome，RLS）的发生有关。然而，这些基因与亚洲人群中RLS风险之间的关联尚未得到很好的研究。目的：研究中国人群中RLS的遗传危险因素。研究方法：共招募158例RLS患者和229例对照，RLS的诊断基于国际RLS研究组的标准。采用聚合物链反应和测序技术检测血红素加氧酶1（HMOX 1）、HMOX 2、维生素D3（1，25-二羟维生素D3）受体基因（VDR）、白细胞介素17 A（IL 17 A）、IL 1B、NOS 1、乙醇脱氢酶（ADH 1B）、γ-氨基丁酸受体（GABRR 3）和GABRA 4等9个基因位点的14个单核苷酸多态性（SNP）。结果：在14个SNPs中，IL 1B rs 1143634 C等位变异在RLS患者中的频率低于对照组。此外，在校正年龄和性别后，在显性模型中发现VDR的rs731236与RLS的风险增加相关。然而，这些结果均未通过Bonferroni校正。纳入低铁蛋白水平的RLS患者后，未观察到HMOX 1和HMOX 2基因对RLS发生的影响。结论：我们的研究未能在中国人群中复制9个候选遗传位点（HMOX 1、HMOX 2、VDR、IL 17 A、IL 1B、NOS 1、ADH 1B、GABRR 3和GABRA 4）与RLS的关联。
Backgrounds: Several recent case-control studies have suggested some candidate genes being responsible for causing the restless legs syndrome (RLS). However, the association between those genes and the risk for RLS among the Asian population has not been well investigated. Objectives: The aim of the study was to investigate the genetic risk factors of RLS among the Chinese Population. Methods: A total of 158 RLS patients and 229 controls were recruited and the diagnosis of RLS was based on the criteria of International RLS Study Group. Polymer chain reaction and sequencing were used to detect 14 single nucleotide polymorphisms (SNPs) in 9 genetic loci (heme oxygenase 1 [HMOX1], HMOX2, vitamin D3 [1, 25-dihydroxyvitamin D3] receptor gene [VDR], interleukin 17A [IL17A], IL1B, NOS1, alcohol-dehydrogenase [ADH1B], gamma-aminobutyrate acid receptors[GABRR3] and GABRA4). Results: Among 14 selected SNPs, the frequency of IL1B rs1143634C allelic variant was lower in RLS patients than that in controls. Moreover, after adjustment for age and sex, rs731236 of VDR were found associated with increased risk of RLS in the dominant model. However, none of those results survived Bonferroni correction. The effects of HMOX1 and HMOX2 gene on developing RLS were not seen after the inclusion of RLS patients with a low ferritin level. Conclusions: Our study failed to replicate the association between 9 candidate genetic loci (HMOX1, HMOX2, VDR, IL17A, IL1B, NOS1, ADH1B, GABRR3 and GABRA4) and RLS in the Chinese population.