在一系列意大利患者中，DRD3基因Ser9Gly变异与特发性震颤无关。
DRD3 Ser9Gly variant is not associated with essential tremor in a series of Italian patients.
作者信息
Vitale C, Gulli R, Ciotti P, Scaglione C, Bellone E, Avanzino L, Lantieri F, Abbruzzese G, Martinelli P, Barone P, Mandich P
机构信息
Department of Neurological Sciences, Institute of Diagnosis e Therapy, University Federico II, Naples.
出版信息
Eur J Neurol. 2008 Sep;15(9):985-7. doi: 10.1111/j.1468-1331.2008.02164.x. Epub 2008 May 15.
BACKGROUND
Essential tremor (ET) is the most common movement disorder worldwide. Three susceptibility loci on chromosomes 3q13, 2p24.1, and 6p23 have been reported, but no causative genes were found. The Ser9Gly variant of dopamine D3 receptor (DRD3) receptor was found associated to ET in a French and US population.
METHODS
A case-control study to evaluate the association between the Ser9Gly variant and ET was performed in a cohort of 116 Italian patients with familial ET and in 158 normal controls.
RESULTS
No significant difference in allele and genotype frequencies was found between the two groups.
CONCLUSIONS
These results do not support an association between DRD3 Ser9Gly and susceptibility to ET in Italian patients.
背景
特发性震颤（ET）是全球最常见的运动障碍。已报道了位于3号染色体q13、2号染色体p24.1和6号染色体p23上的三个易感基因座，但未发现致病基因。在法国和美国人群中发现多巴胺D3受体（DRD3）的Ser9Gly变异与特发性震颤相关。
方法
在一组116例意大利家族性特发性震颤患者和158例正常对照中进行了一项病例对照研究，以评估Ser9Gly变异与特发性震颤之间的关联。
结果
两组之间的等位基因和基因型频率没有显著差异。
结论
这些结果不支持DRD3 Ser9Gly与意大利患者特发性震颤易感性之间存在关联。
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