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常见的内皮型一氧化氮合酶单核苷酸多态性与不宁腿综合征的风险无关。

Common Endothelial Nitric Oxide Synthase Single Nucleotide Polymorphisms are not Related With the Risk for Restless Legs Syndrome.

作者信息

Jiménez-Jiménez Félix Javier, Agúndez Blanca G, Gómez-Tabales Javier, Alonso-Navarro Hortensia, Turpín-Fenoll Laura, Millán-Pascual Jorge, Díez-Fairén Mónica, Álvarez Ignacio, Pastor Pau, Calleja Marisol, García-Ruiz Rafael, Navarro-Muñoz Santiago, Recio-Bermejo Marta, Plaza-Nieto José Francisco, García-Albea Esteban, García-Martín Elena, Agúndez José A G

机构信息

Section of Neurology, Hospital Universitario del Sureste, Arganda del Rey, Spain.

UNEx, ARADyAL, University Institute of Molecular Pathology Biomarkers, Cáceres, Spain.

出版信息

Front Pharmacol. 2021 Feb 25;12:618989. doi: 10.3389/fphar.2021.618989. eCollection 2021.

Abstract

Because nitric oxide and endothelial dysfunction could play a role in the pathogenesis of idiopathic restless legs syndrome (RLS), as was suggested by some preliminary data, we investigated the possible association between the rs2070744 variants in the or gene (chromosome 7q36.1) and the risk for RLS in a Caucasian Spanish population. We assessed the frequencies of single nucleotide polymorphisms (SNPs) rs2070744, rs1799983, and rs79467411 genotypes and allelic variants in 273 patients with idiopathic RLS and 325 healthy controls using a -based qPCR assay. We also analyzed the possible influence of genotype frequency on age at onset of RLS symptoms, gender, family history of RLS, and response to drugs commonly used in the treatment of RLS such as dopaminergic drugs, clonazepam, and GABAergic drugs. The frequencies of genotypes and allelic variants were not associated with the risk for RLS and were not influenced by gender, age, and positive family history of RLS. We identified weak statistical associations of the SNP rs1799983 with the response to dopamine agonists (Pc = 0.018 for the rs1799983 G/T genotype) and of the SNP rs79467411 with the response to clonazepam (Pc = 0.018 for the rs79467411 G allele), although these findings should be cautiously interpreted and require further confirmation. These associations aside, our findings suggest that common SNPs are not associated with the risk for idiopathic RLS in Caucasian Spanish people.

摘要

一些初步数据表明,一氧化氮和内皮功能障碍可能在特发性不宁腿综合征(RLS)的发病机制中起作用。因此,我们在西班牙白种人群中研究了位于7号染色体7q36.1区域的NP或P2基因中rs2070744变异与RLS风险之间的可能关联。我们使用基于TaqMan的定量PCR分析,评估了273例特发性RLS患者和325名健康对照中单个核苷酸多态性(SNP)rs2070744、rs1799983和rs79467411的基因型和等位基因变异频率。我们还分析了基因型频率对RLS症状发作年龄、性别、RLS家族史以及对RLS常用治疗药物(如多巴胺能药物、氯硝西泮和GABA能药物)反应的可能影响。基因型和等位基因变异频率与RLS风险无关,且不受性别、年龄和RLS阳性家族史的影响。我们发现SNP rs1799983与对多巴胺激动剂的反应之间存在弱统计学关联(rs1799983 G/T基因型的Pc = 0.018),SNP rs79467411与对氯硝西泮的反应之间存在弱统计学关联(rs79467411 G等位基因的Pc = 0.018),尽管这些发现应谨慎解释且需要进一步证实。除此之外,我们的研究结果表明,常见的NP SNPs与西班牙白种人特发性RLS的风险无关。

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