Association analysis of the dopamine D2receptor gene in Tourette's syndrome using the haplotype relative risk method
Abstract
Comings et al. [1991: JAMA 266: 1793–1800] have recently reported a highly significant association between Tourette's syndrome (TS) and a restriction fragment length polymorphism (RFLP) of the dopamine D 2 receptor gene (DRD2) locus. The A1 allele of the DRD2 Taq I RFLP was present in 45% of the Tourette patients compared with 25% of controls. We tried to replicate this finding by using the haplotype relative risk (HRR) method for association analysis. This method overcomes a major problem of conventional case‐control studies, where undetected ethnic differences between patients and controls may result in a false‐positive finding, by using parental alleles not inherited to the proband as control alleles. Sixtyone nuclear families encompassing an affected child and parents were typed for the DRD2 Taq I polymorphism. No significant differences in DRD2 A1 allele frequency were observed between TS probands, subpopulations of probands classified according to tic severity, or parental control alleles. Our data do not support the hypothesis that the DRD2 locus may act as a modifying gene in the expression of the disorder in TS probands. © 1994 Wiley‐Liss, Inc.
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Variants in the DA receptor gene DRD2 have been associated with genetic risk for TS, but this finding is not consistent.
“Variants in the DA receptor gene DRD2 have also been associated with genetic risk for TS [626-628], but this finding is not consistent [629-633].”
From Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings (2012) · cites this paper as [633]
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- Authors
- Nöthen, M. M., Hebebrand, J., Knapp, M., Hebebrand, K., Camps, A., von Gontard, A., Wettke‐Schäfer, R., Lisch, S., Cichon, S., Poustka, F., Schmidt, M., Lehmkuhl, G., Remschmidt, H., & Propping, P.
- Affiliations
- University of Bonn (DE)
- Philipps University of Marburg (DE)
- University of Cologne (DE)
- Central Institute of Mental Health (DE)
- Goethe University Frankfurt (DE)
- Corresponding author
- Nöthen, Markus M.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1994-09-15
- Volume
- 54
- Issue
- 3
- Pages
- 249-252
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W1978881126
- Cited by
- 52
- References
- 41
- Citations by year
- 2024: 1 · 2022: 5 · 2019: 1 · 2017: 1 · 2015: 3 · 2014: 1 · 2013: 2 · 2012: 1
- FWCI
- 6.18
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Social Sciences › Psychology › Clinical Psychology › Obsessive-Compulsive Spectrum Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neurotransmitter Receptor Influence on Behavior
- Keywords
- Tourette syndrome, dopamine D2 receptor gene, DRD2, haplotype relative risk, genetic association, ethnic differences in allele frequency, tic severity, modifying genes
- MeSH terms
- Adolescent, Adult, Alleles, Genotype, Tourette Syndrome, Haplotypes, Humans, Polymorphism, Restriction Fragment Length, Risk Factors, Receptors, Dopamine D2
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