1. Candidate gene studies in focal dystonia.
- Author
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Sibbing D, Asmus F, König IR, Tezenas du Montcel S, Vidailhet M, Sangla S, Oertel WH, Brice A, Ziegler A, Gasser T, and Bandmann O
- Subjects
- Cystathionine beta-Synthase genetics, Female, France, Gene Frequency, Genetic Predisposition to Disease, Genotype, Germany, HLA-DRB1 Chains, Haplotypes, Humans, Male, Methylenetetrahydrofolate Reductase (NADPH2) genetics, Polymerase Chain Reaction, Receptors, Dopamine D5, 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase genetics, Dystonic Disorders genetics, HLA-DR Antigens genetics, Molecular Chaperones genetics, Polymorphism, Genetic, Receptors, Dopamine D1 genetics
- Abstract
Background: Genetic susceptibility factors for focal idiopathic torsion dystonia (F-ITD) are not established. Mutations in the DYT1 gene can cause focal dystonia, and an association with a polymorphism in the D5 receptor gene (DRD5) has been reported but not confirmed., Objective: To investigate a possible role of DYT1 polymorphisms, a CA repeat in the D5 receptor gene (DRD5), the human leukocyte antigen (HLA)-DRB locus, and four polymorphisms in the homocysteine metabolism in the pathogenesis of F-ITD., Methods: Initially, 100 German patients and 100 matched control subjects were investigated. A second French population with 121 F-ITD patients and matched control subjects was also studied., Results: Two polymorphisms of the beta-cystathionine synthase gene were associated with F-ITD in the German population, but this finding was not replicated in a second independent F-ITD patient and control group of French origin. None of the other investigated polymorphisms was associated with F-ITD. The authors failed to confirm a previously reported association with a polymorphism in DRD5., Conclusion: No evidence for an involvement of DYT1, DRD5, HLA-DRB, or polymorphisms in the homocysteine pathway in the pathogenesis of F-ITD was found.
- Published
- 2003
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