Department of Biochemistry and Molecular Biology, School of Biological Sciences, University of Extremadura, Badajoz, Spain.
Mov Disord. 2009 Oct 15;24(13):1910-5. doi: 10.1002/mds.22518.
To investigate the possible association between dopamine receptor D3 genotype (DRD3) and allelic variants and the risk for developing essential tremor (ET). Leukocytary DNA from 201 patients with ET and 282 healthy controls was studied for the genotype DRD3 and the occurrence of DRD3 allelic variants by using allele-specific PCR amplification and MslI-RFLP's analyses. A meta-analysis of previous studies was performed. The frequencies of the DRD3Ser/Gly genotype and of the allelic variant DRDGly were significantly higher in patients with ET than in controls (P < 0.017 and <0.005, respectively), These findings were especially relevant in women (OR = 1.73, 95% CI: 1.15-2.59, P = 0.008), and in patients with earlier onset of the disease with (P = 0.014). The frequencies of the DRD3Ser/Gly and DRD3Gly/Gly genotypes and of the allelic variant DRD3Gly in patients were significantly higher in patients with voice tremor, but not with head, tongue, or chin tremor, than in controls. The meta-analysis indicated association of variant genotypes with ET risk (OR = 1.18, 95% CI 1.01-1.38). These results suggest that DRD3 genotype and the variant DRD3Gly allelic variant is associated with the risk for and age at onset of ET, and with the risk for voice tremor, in Caucasian Spanish people.
为了研究多巴胺受体 D3 基因型（DRD3）和等位基因变异与特发性震颤（ET）发病风险之间可能存在的关联。研究了 201 例 ET 患者和 282 名健康对照者的白细胞 DNA，采用等位基因特异性 PCR 扩增和 MslI-RFLP 分析检测 DRD3 基因型和 DRD3 等位基因变异的发生情况。对以往研究进行了荟萃分析。ET 患者中 DRD3Ser/Gly 基因型和等位基因变异 DRDGly 的频率明显高于对照组（分别为 P < 0.017 和 P < 0.005）。这些发现与女性（OR = 1.73，95%CI：1.15-2.59，P = 0.008）和发病较早的患者（P = 0.014）尤其相关。DRD3Ser/Gly 和 DRD3Gly/Gly 基因型以及 DRD3Gly 等位基因在有声音震颤的患者中的频率明显高于对照组，但在有头部、舌头或下巴震颤的患者中无差异。荟萃分析表明，变异基因型与 ET 风险相关（OR = 1.18，95%CI 1.01-1.38）。这些结果表明，DRD3 基因型和变异 DRD3Gly 等位基因与 ET 的发病风险和发病年龄以及与白种西班牙人的声音震颤风险相关。
