SLC1A2 rs3794087 等位基因与西班牙人群特发性震颤风险之间无关联。
No association of the SLC1A2 rs3794087 allele with risk for essential tremor in the Spanish population.
机构信息
Departments of aBiochemistry and Molecular Biology bPharmacology, University of Extremadura, Cáceres cDepartment of Pharmacology, University of Extremadura, Badajoz dSection of Neurology, University Hospital of Sureste eDepartment of Medicine-Neurology, Hospital "Príncipe de Asturias", University of Alcalá fService of Neurology, Hospital "Doce de Octubre", Department of Medicine, University Complutense gCenter for Biomedical Investigation, Net of Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid hNeurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, Universidad de Navarra iDepartment of Neurology, University Clinic of Navarra, University of Navarra School of Medicine, Pamplona jDepartment of Neurology, University Hospital of Salamanca, Salamanca, Spain.
出版信息
Pharmacogenet Genomics. 2013 Nov;23(11):587-90. doi: 10.1097/FPC.0b013e328364db9d.
BACKGROUND/AIMS: A recent genome-wide association study and other replication studies have suggested that the rs3794087 single nucleotide polymorphism in the solute carrier family 1 - glial affinity glutamate transporter-member 2 (SLC1A2) gene is associated with an increased risk for essential tremor (ET), and a replication study in an Asian cohort has shown a decreased risk for ET associated with the rs3794087T allele. We tried to replicate this association in a White Spanish population.
MATERIALS AND METHODS
We analyzed the distribution of allelic and genotypic frequencies of rs3794087 in 202 patients with familial ET and 308 healthy controls using a TaqMan-based quantitative PCR assay.
RESULTS
Genotypic and allelic frequencies of rs3794087 did not differ significantly between patients with ET and controls and were unrelated with the age at onset of tremor or sex.
CONCLUSION
Our study suggests that SLC1A2 rs3794087 is not associated with the risk for developing familial ET in the Spanish population, thus subtracting relevance to SLC1A2 rs3794087 as a risk biomarker for ET.
背景/目的：最近的全基因组关联研究和其他复制研究表明，溶质载体家族 1-胶质亲和力谷氨酸转运蛋白成员 2（SLC1A2）基因中的 rs3794087 单核苷酸多态性与特发性震颤（ET）的风险增加有关，一项亚洲队列的复制研究表明，rs3794087T 等位基因与 ET 的风险降低有关。我们试图在西班牙白人群体中复制这种关联。
材料和方法
我们使用 TaqMan 定量 PCR 检测分析了 202 名家族性 ET 患者和 308 名健康对照者中 rs3794087 的等位基因和基因型频率。
结果
ET 患者和对照组的 rs3794087 基因型和等位基因频率无显著差异，与震颤发病年龄或性别无关。
结论
我们的研究表明，SLC1A2 rs3794087 与西班牙人群中发生家族性 ET 的风险无关，因此 SLC1A2 rs3794087 作为 ET 的风险生物标志物相关性不大。
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