Allelic association between the DRD2 TaqI A polymorphism and Parkinson's disease
Allelic association between the DRD2 TaqI A polymorphism and Parkinson's disease
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DOI：
10.1002/1531-8257(200011)15:6
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发表时间：
2000-11
影响因子：
8.6
通讯作者：
L. Grevle;C. Güzey;H. Hadidi;R. Brennersted;J. Idle;J. Aasly
中科院分区：
文献类型：
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作者：
L. Grevle;C. Güzey;H. Hadidi;R. Brennersted;J. Idle;J. Aasly
在帕金森氏病(PD)候选基因的评估过程中，编码多巴胺能传递蛋白的基因一直是人们特别感兴趣的。多巴胺D2受体基因(DRD2)位于第11号染色体q22-q23上，该基因的多态现象已被报道。DRD2基因具有TaqI A限制性片段长度多态，位于非翻译区，距基因3‘端约10kb。这种多态产生了两个等位基因A1(变异)和A2。在这项研究中，我们调查了多巴胺D2受体基因TaqI重复片段长度多态性可能与帕金森病相关的假设。应用聚合酶链式反应和凝胶电泳法对72例确诊、可能或不典型帕金森病患者和81例正常对照的DNA进行TaqI A1基因分型。对照组在年龄、种族和地理来源方面进行了匹配。PD组等位基因分布与对照组比较差异有统计学意义(χ2=5.009，p=0.025)。当只考虑明确的帕金森病患者时，发现有更显著的相关性(χ2=8.2121，p=0.004)。在整个帕金森病组中，携带A1变异等位基因的优势比为2.2(95%可信区间，[1.1；4.4])，而当只考虑明确的帕金森病患者时，该比值比为3.0(95%可信区间，[1.4；6.4])。目前的研究表明，DRD2变异等位基因A1与帕金森病之间存在统计学意义的关联。这种联系在明确的帕金森病患者中最为明显，当临床表现被归类为非典型帕金森病时，这种联系变得不明显。
Genes encoding proteins involved in dopaminergic transmission have been of special interest during the evaluation of candidate genes for Parkinson's disease (PD). The dopamine D2 receptor gene (DRD2) is located on chromosome 11 q22‐q23, and several polymorphisms of the gene have been described. The DRD2 gene has a TaqI A restriction fragment length polymorphism that is located in the untranslated region, approximately 10 kilobases from the 3′ end of the gene. This polymorphism creates the two alleles A1 (variant) and A2. In this study, we investigated the hypothesis that a TaqI repeat fragment length polymorphism in the dopamine D2 receptor gene may be associated with PD. DNA from 72 patients with PD, classified as definite, probable, or atypical PD, and from 81 controls was genotyped by polymerase chain reaction and gel electrophoresis for the presence of the TaqI A1 polymorphism. The controls were matched for age, race, and geographic origin. There were significant differences in allelic distribution between the overall PD group and control groups (χ2 = 5.009, p = 0.025). When only patients with definite PD were considered an even more significant association was found (χ2 = 8.2121, p = 0.004). Among the overall PD group, the odds ratio for having the variant allele A1 was found to be 2.2 (95% confidence interval, [1.1; 4.4]), whereas it was calculated to be 3.0 (95% confidence interval, [1.4; 6.4]) when only patients with definite PD were considered. The current study showed that there is a statistically significant association between the DRD2 variant allele A1 and PD. This association is most pronounced in patients with definite PD and becomes nonsignificant when the clinical picture is classified as atypical PD.