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The dopamine D2 receptor gene is a susceptibility locus for Parkinson's disease
Author(s) -
Oliveri Rosario L.,
Annesi Grazia,
Zappia Mario,
Civitelli Donatella,
De Marco Elvira V.,
Pasqua Angela A.,
Annesi Ferdinanda,
Spadafora Patrizia,
Gambardella Antonio,
Nicoletti Giuseppe,
Branca Damiano,
Caracciolo Manuela,
Aguglia Umberto,
Quattrone Aldo
Publication year - 2000
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/1531-8257(200001)15:1<120::aid-mds1019>3.0.co;2-s
Subject(s) - allele , odds ratio , linkage disequilibrium , locus (genetics) , genetics , medicine , case control study , endocrinology , biology , haplotype , gene
The dopamine D2 receptor (DRD2) gene has been proposed as a candidate gene underlying several psychiatric and neurologic disorders. The aim of the present study was to examine if selected polymorphisms in the DRD2 gene are associated with Parkinson's disease (PD). We determined the allelic frequencies for four polymorphisms located in the DRD2 gene in a sample of 135 patients with PD and 202 normal control subjects. No significant difference was observed in the allelic frequencies between patients with PD and control subjects with regard to the ‐141C Ins/Del and the Ser 311 /Cys 311 variants. On the contrary, the A1 allele of the TaqIA polymorphism and the B1 allele of the TaqIB polymorphism were more frequent in patients with PD than in control subjects (control subjects: TaqIA A1 = 14.6%, TaqIB B1 = 10.6%; patients with PD: TaqIA A1 = 20.7%, TaqIB B1 = 17.4%). Patients carrying the A1 allele or the B1 allele had an increased risk of developing PD (TaqIA, odds ratio: 1.71, 95% confidence intervals: 1.08–2.73; TaqIB, odds ratio: 1.83, 95% confidence intervals: 1.12–3.02). The TaqIA and TaqIB polymorphisms were in strong linkage disequilibrium, suggesting that these two polymorphisms convey the same information about the risk of presenting with PD. Genetic variation in the DRD2 gene may influence the risk of developing PD, thus confirming that the DRD2 gene is a susceptibility locus for PD.