Neuronal nitric oxide synthase (nNOS, NOS1) rs693534 and rs7977109 variants and risk for restless legs syndrome
Neuronal nitric oxide synthase (nNOS, NOS1) rs693534 and rs7977109 variants and risk for restless legs syndrome
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DOI：
10.1007/s00702-014-1322-z
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发表时间：
2015-06-01
影响因子：
3.3
通讯作者：
Agundez, Jose A. G.
中科院分区：
文献类型：
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作者：
Javier Jimenez-Jimenez, Felix;Alonso-Navarro, Hortensia;Agundez, Jose A. G.
一些生化、神经病理学和实验数据表明，一氧化氮(NO)可能在不宁腿综合征(RLS)的病理生理学中起作用。已发现两个单核苷酸多态(SNPs)神经元型一氧化氮合酶(nNOS或NOS1)基因(rs7977109和rs693534)与德国人RLS的风险相关，但经多次比较测试后，只有一个(Rs7977109)基因与德国人的RLS风险相关。我们研究的目的是在西班牙人群中复制这些SNP与RLS风险之间的可能关联。采用TaqMan基因分型方法，对205例RLS患者和328例健康对照的rs7977109和rs693534两个单核苷酸多态的等位基因频率和基因型频率进行了研究。Rs7977109和rs693534的基因分型和等位基因频率在RLS患者和对照组之间没有显著差异，并且与RLS的发病年龄、性别、铁蛋白水平以及对多巴胺或GABA能药物的反应无关。Rs7999109GA基因在有RLS阳性家族史的RLS患者和对氯硝西潘有症状反应的患者中过度表达。我们的研究结果表明，这两个NOS1 SNP与西班牙人群中RLS的总体风险无关。
Several biochemical, neuropathological, and experimental data suggest a possible role of nitric oxide (NO) in the pathophysiology of restless legs syndrome (RLS). Two single nucleotide polymorphisms (SNPs) neuronal nitric oxide synthase (nNOS or NOS1) gene (rs7977109 and rs693534) have been found to be associated with the risk for RLS in Germans, although only one of them (rs7977109) remained as significant after multiple comparison tests. The aim of our study was to replicate the possible association between these SNPs and risk for RLS in the Spanish population. We studied the allelic and genotype frequencies of the SNPs rs7977109 and rs693534 in 205 patients with RLS and 328 healthy controls using TaqMan genotyping. The rs7977109 and rs693534 genotypes and allelic frequencies did not significantly differ between patients with RLS and controls and were unrelated with the age at onset of RLS, gender, ferritin levels, and response to dopaminergic or gabaergic agents. The rs7999109GA genotype was overrepresented in RLS patients with positive family history of RLS, and in patients with symptomatic response to clonazepam. The results of our study suggest that these two NOS1 SNPs are not related to the overall risk for RLS in the Spanish population.