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Association of Multiple DRD2 Polymorphisms with Anorexia Nervosa
Open accessAbstract
To investigate whether the dopaminergic system plays a role in the etiology of anorexia nervosa (AN) via the dopamine D2 receptor, we investigated association and transmission disequilibrium at seven single-nucleotide polymorphisms (SNPs) spanning about 75 kbp of the gene DRD2. We studied 191 probands with a DSM-IV diagnosis of AN, 457 parents and affected relatives with a DSM-IV eating disorder diagnosis, and 98 unrelated, female, normal weight controls. The -141 C/- insertion/deletion (-141 Indel), previously shown to affect DRD2 transcription efficiency, and multiple exon seven polymorphisms, one of which has previously been shown to affect DRD2 transcript stability, exhibited statistically significant association with diagnosis in haplotype transmission disequilibrium and in haplotype case : control analyses. Significant linkage disequilibrium between the -141 Indel and two exon seven SNPs (939Y and 957Y) was observed over a distance of >50 kbp in the AN probands but not in the controls. Genetically transmitted variation in D2 dopamine receptor expression mediated by functional polymorphisms affecting transcription and translation efficiency may play a role in vulnerability to AN.
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“significant relations between multiple DRD2 polymorphisms and AN [344].”
From Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings (2012) · cites this paper as [344]
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New insights into symptoms and neurocircuit function of anorexia nervosa
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Metadata
- Authors
- Bergen, A. W., Yeager, M., Welch, R. A., Haque, K., Ganjei, J. K., van den Bree, M. B. M., Mazzanti, C., Nardi, I., Fichter, M. M., Halmi, K. A., Kaplan, A. S., Strober, M., Treasure, J., Woodside, D. B., Bulik, C. M., Bacanu, S.-A., Devlin, B., Berrettini, W. H., Goldman, D., & Kaye, W. H.
- Affiliations
- National Institutes of Health (US)
- Tissue Gene (United States) (US)
- Cancer Research UK (GB)
- University of Pisa (IT)
- Schön Klinik Roseneck (DE)
- Cornell University (US)
- University Health Network (CA)
- University of California, Los Angeles (US)
- King's College London (GB)
- University of North Carolina at Chapel Hill (US)
- University of Pittsburgh (US)
- University of Pennsylvania Health System (US)
- National Institute on Alcohol Abuse and Alcoholism (US)
- Corresponding author
- Bergen, Andrew W
- ORCID
- Venue
- Neuropsychopharmacology
- Published
- 2005-05-25
- Volume
- 30
- Issue
- 9
- Pages
- 1703-1710
- ISSN
- 0893-133X (ISSN-L)
- 1740-634X
- OpenAlex
- W2111445266
- Cited by
- 137
- References
- 53
- Citations by year
- 2025: 1 · 2024: 4 · 2023: 4 · 2022: 4 · 2021: 7 · 2020: 4 · 2019: 2 · 2018: 8 · 2017: 4 · 2016: 8 · 2015: 10 · 2014: 7 · 2013: 7 · 2012: 10
- FWCI
- 8.09
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Neuropsychopharmacology (publishedVersion)
- PubMed (publishedVersion)
- CINECA IRIS Institutial research information system (University of Pisa) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- INFM-OAR (INFN Catania) (submittedVersion, other-oa)
- Zenodo (CERN European Organization for Nuclear Research) (cc-by)
- Funders
- U.S. Department of Health and Human Services
- Louis and Harold Price Foundation
- National Alliance for Research on Schizophrenia and Depression
- Australian Government
- European Commission (644690)
- National Institutes of Health
- National Institute of Mental Health (MH 57881)
- National Center for Research Resources (RR-03655, P41RR003655)
- Topics
- Social Sciences › Psychology › Clinical Psychology › Eating Disorders and Behaviors
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neurotransmitter Receptor Influence on Behavior
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- anorexia nervosa, DRD2, dopamine D2 receptor, single nucleotide polymorphisms, linkage disequilibrium, dopaminergic system, genetic susceptibility, eating disorders, transcription efficiency, transcript stability
- MeSH terms
- Adolescent, Adult, Aged, Anorexia Nervosa, Exons, Female, Genotype, Humans, Male, Middle Aged, Linkage Disequilibrium, Chi-Square Distribution, Receptors, Dopamine D2, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide
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