GABA(A) 受体和 GABA 转运体多态性与特发性震颤的风险。
GABA(A) receptor- and GABA transporter polymorphisms and risk for essential tremor.
机构信息
Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel.
出版信息
Eur J Neurol. 2011 Aug;18(8):1098-100. doi: 10.1111/j.1468-1331.2010.03308.x. Epub 2010 Dec 22.
BACKGROUND
Clinical features and animal models of essential tremor (ET) suggest gamma-aminobutyric acid A receptor (GABA(A) R) subunits and GABA transporters as putative candidate genes.
METHODS
A total of 503 ET cases and 818 controls were investigated for an association between polymorphisms in 15 GABA(A) R and four GABA transporter genes and ET.
RESULTS
Nine nominally significant tagging SNPs (P values from 4.9×10(-2) to 5.2×10(-4) ) were found in the hypothesis generation stage. Five SNPs were followed up in a second verification stage but failed to reach significance. (P values from 0.30 to 0.77).
DISCUSSION
In our samples, no evidence of association between GABA(A) R and GABA transporter genes with ET was detected. Further studies are necessary to clarify the role of these genes in ET.
背景
特发性震颤（ET）的临床特征和动物模型表明 γ-氨基丁酸 A 受体（GABA(A)R）亚基和 GABA 转运体可能是候选基因。
方法
对 503 例 ET 病例和 818 例对照进行了 15 个 GABA(A)R 和 4 个 GABA 转运体基因的多态性与 ET 之间的关联研究。
结果
在假说生成阶段发现了 9 个名义上显著的标记 SNP（P 值从 4.9×10(-2) 到 5.2×10(-4) ）。在第二个验证阶段对 5 个 SNP 进行了后续研究，但未达到显著水平（P 值为 0.30 至 0.77）。
讨论
在我们的样本中，未发现 GABA(A)R 和 GABA 转运体基因与 ET 之间存在关联的证据。需要进一步的研究来阐明这些基因在 ET 中的作用。
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