Association of DRD2 and DRD3 polymorphisms with Parkinson's disease in a multiethnic consortium.
Association of DRD2 and DRD3 polymorphisms with Parkinson's disease in a multiethnic consortium.
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DOI：
10.1016/j.jns.2011.05.031
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发表时间：
2011-08-15
影响因子：
4.4
通讯作者：
Nelson, L. M.
中科院分区：
文献类型：
--
作者：
McGuire, V.;Van den Eeden, S. K.;Tanner, C. M.;Kamel, F.;Umbach, D. M.;Marder, K.;Mayeux, R.;Ritz, B.;Ross, G. W.;Petrovitch, H.;Topol, B.;Popat, R. A.;Costello, S.;Manthripragada, A. D.;Southwick, A.;Myers, R. M.;Nelson, L. M.
研究多巴胺受体D2 （DRD2）和D3 （DRD3）基因多态性与帕金森病（PD）风险的遗传关系。该研究包括1325名新诊断的PD患者和1735名来自北美5个病例对照研究的对照组。我们通过面对面或电话访谈收集风险因素信息。在同一实验室对6个DRD2和2个DRD3多态性进行基因分型。比值比采用逻辑回归估计。在非西班牙裔白人中，Taq1A DRD2 （rs1800497）多态性的纯合子携带者比纯合子野生型携带者患PD的风险更高（OR=1.5, 95% CI 1.0-2.3）。相反，非裔美国人Taq1A多态性的关联方向相反，与PD风险呈负相关（OR=0.10, 95% CI 0.2-0.7）。在携带两个等位基因的西班牙裔白人中，Ser9Gly DRD3 （rs6280）多态性与PD风险降低相关（OR=0.4, 95%CI 0.2-0.8）。吸烟与PD风险的负相关关系不受DRD2或DRD3多态性的影响。DRD2多态性不太可能是真正的致病变异；然而，三个DRD2多态性（包括Taq1A）可能与DRD2- ankk1 - ncam1 - ttc12基因簇中可能的疾病相关变异存在连锁不平衡。
To examine genetic associations of polymorphisms in the dopamine receptor D2 (DRD2) and D3 (DRD3) genes with risk of Parkinson’s disease (PD). The study included 1325 newly diagnosed patients with PD and 1735 controls from a consortium of five North American case-control studies. We collected risk factor information by in-person or telephone interview. Six DRD2 and two DRD3 polymorphisms were genotyped using a common laboratory. Odds ratios were estimated using logistic regression. Among non-Hispanic whites, homozygous carriers of Taq1A DRD2 (rs1800497) polymorphism had an increased risk of PD compared to homozygous wildtype carriers (OR=1.5, 95% CI 1.0–2.3). In contrast, the direction of association for Taq1A polymorphism was opposite for African Americans, showing an inverse association with PD risk (OR=0.10, 95% CI 0.2–0.7). Among white Hispanics who carried two alleles, the Ser9Gly DRD3 (rs6280) polymorphism was associated with a decreased risk of PD (OR=0.4, 95%CI 0.2–0.8). The inverse association of smoking with PD risk was not modified by any of the DRD2 or DRD3 polymorphisms. DRD2 polymorphisms are unlikely to be true disease-causing variants; however, three DRD2 polymorphisms (including Taq1A) may be in linkage disequilibrium with possible disease associated variants in the DRD2-ANKK1-NCAM1-TTC12 gene cluster.
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