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rs1229984 多态性与不安腿综合征风险的关联。

Association Between the rs1229984 Polymorphism in the Alcohol Dehydrogenase 1B Gene and Risk for Restless Legs Syndrome.

机构信息

Section of Neurology, Hospital Universitario del Sureste, Spain.

Department of Medicine-Neurology, Hospital "Príncipe de Asturias," Universidad de Alcalá, Spain.

出版信息

Sleep. 2017 Dec 1;40(12). doi: 10.1093/sleep/zsx174.

Abstract

BACKGROUND/OBJECTIVES: Several studies have raised the possibility of an association between alcohol consumption and the risk of developing restless legs syndrome (RLS). Moreover, an important percentage of patients under alcohol detoxification therapy develop RLS symptoms that fulfil the criteria for idiopathic RLS during alcohol withdrawal. We have aimed to establish the possible association between two common single nucleotide polymorphisms (SNPs) in the alcohol-dehydrogenase 1B (ADH1B) gene and the risk for RLS.

METHODS

We studied, using specific TaqMan assays, the genotype and allelic variant frequencies of ADH1B rs1229984 and ADH1B rs6413413 SNPs in 205 RLS patients and 505 gender-matched healthy controls.

RESULTS

The sum of the frequencies of rs1229984CT and rs1229984TT genotypes, as well as the frequency of the rs1229984T allelic variant, was significantly higher in RLS patients than in controls, both in the whole group and in females. The frequencies of genotypes and allelic variants of the rs6413413 SNP were similar between the two groups. RLS patients with the rs1229984CT genotype were younger, and those with the rs122984TT genotype older, at onset of RLS symptoms than those with the rs1229984CC genotype. None of the studied SNPs were related either with positivity of family history for RLS or with RLS severity.

CONCLUSIONS

These results suggest an association between rs1229984 SNP and the risk for RLS.

摘要

背景/目的:多项研究提出了饮酒与不安腿综合征(RLS)风险之间可能存在关联的观点。此外,在接受酒精解毒治疗的患者中,有相当大比例的患者在酒精戒断期间会出现符合特发性 RLS 标准的 RLS 症状。我们旨在确定酒精脱氢酶 1B(ADH1B)基因中两个常见的单核苷酸多态性(SNP)与 RLS 风险之间的可能关联。

方法

我们使用特定的 TaqMan 检测方法,研究了 205 例 RLS 患者和 505 名性别匹配的健康对照者中 ADH1B rs1229984 和 ADH1B rs6413413 SNP 的基因型和等位基因变异频率。

结果

RLS 患者中 rs1229984CT 和 rs1229984TT 基因型的总和以及 rs1229984T 等位基因的频率均显著高于对照组,无论是在整个组还是在女性中。rs6413413 SNP 的基因型和等位基因变异频率在两组之间相似。与 rs1229984CC 基因型相比,rs1229984CT 基因型的 RLS 患者发病年龄较小,而 rs1229984TT 基因型的患者发病年龄较大。研究的 SNP 均与 RLS 的家族史阳性或 RLS 的严重程度无关。

结论

这些结果表明 rs1229984 SNP 与 RLS 风险之间存在关联。

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