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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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Cites
Multiple receptors for dopamine
Kebabian, J. W., & Calne, D. B. (1979) · Nature · doi:10.1038/277093a0 · Cited by 3,756
PedCheck: A Program for Identification of Genotype Incompatibilities in Linkage Analysis
O'Connell, J. R., & Weeks, D. E. (1998) · The American Journal of Human Genetics · doi:10.1086/301904 · Cited by 2,063
Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population.
(1995) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a040269 · Cited by 1,950
Wang, G.-J., Volkow, N. D., Logan, J., Pappas, N. R., Wong, C. T., Zhu, W., Netusll, N., & Fowler, J. S. (2001) · The Lancet · doi:10.1016/s0140-6736(00)03643-6 · Cited by 1,864
Characterization of single-nucleotide polymorphisms in coding regions of human genes
Cargill, M., Altshuler, D., Ireland, J., Sklar, P., Ardlie, K., Patil, N., Lane, C. R., Lim, E. P., Kalyanaraman, N., Nemesh, J., et al. (1999) · Nature Genetics · doi:10.1038/10290 · Cited by 1,547
Comorbidity of Anxiety Disorders With Anorexia and Bulimia Nervosa
Kaye, W. H., Bulik, C. M., Thornton, L., Barbarich, N., Masters, K., & the Price Foundation Collaborative Group (2004) · American Journal of Psychiatry · doi:10.1176/appi.ajp.161.12.2215 · Cited by 1,162
Self-citationMortality in anorexia nervosa.
(1995) · American Journal of Psychiatry · doi:10.1176/ajp.152.7.1073 · Cited by 974
Duan, J. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg055 · Cited by 931
Testing heterozygote excess and deficiency.
Rousset, F., & Michel Raymond, A. (1995) · Genetics · doi:10.1093/genetics/140.4.1413 · Cited by 764
Distinct functions of the two isoforms of dopamine D2 receptors
Usiello, A., Baik, J.-H., Rougé-Pont, F., Picetti, R., Dierich, A., LeMeur, M., Piazza, P. V., & Borrelli, E. (2000) · Nature · doi:10.1038/35041572 · Cited by 717
Neurotransmitter regulation of dopamine neurons in the ventral tegmental area
Kalivas, P. W. (1993) · Brain Research Reviews · doi:10.1016/0165-0173(93)90008-n · Cited by 710
Psychobiology of novelty seeking and drug seeking behavior
Bardo, M. T., Donohew, R. L., & Harrington, N. G. (1996) · Behavioural Brain Research · doi:10.1016/0166-4328(95)00203-0 · Cited by 667
Reward deficiency syndrome: genetic aspects of behavioral disorders
Comings, D. E., & Blum, K. (2000) · Progress in Brain Research · doi:10.1016/s0079-6123(00)26022-6 · Cited by 621
A Controlled Family Study of Anorexia Nervosa and Bulimia Nervosa
Lilenfeld, L. R., Kaye, W. H., Greeno, C. G., Merikangas, K. R., Plotnicov, K. H., Pollice, C., Rao, R., Strober, M. A., Bulik, C. M., & Nagy, L. M. (1998) · Archives of General Psychiatry · doi:10.1001/archpsyc.55.7.603 · Cited by 599
Self-citationStrober, M. A., Freeman, R., Lampert, C., Diamond, J., & Kaye, W. H. (2000) · American Journal of Psychiatry · doi:10.1176/appi.ajp.157.3.393 · Cited by 557
Self-citationArinami, T. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.4.577 · Cited by 447
Grandy, D. K., Litt, M. J., Allen, L., Bunzow, J. R., Marchionni, M. A., Makam, H., Reed, L., Magenis, R. E., & Civelli, O. (1989) · PubMed · Cited by 421
Anorexia Nervosa and Major Depression: Shared Genetic and Environmental Risk Factors
Wade, T. D., Bulik, C. M., Neale, M., & Kendler, K. S. (2000) · American Journal of Psychiatry · doi:10.1176/appi.ajp.157.3.469 · Cited by 375
Self-citationFrank, G. K., Bailer, U. F., Henry, S. E., Drevets, W., Meltzer, C. C., Price, J. C., Mathis, C. A., Wagner, A., Hoge, J., Ziolko, S., et al. (2005) · Biological Psychiatry · doi:10.1016/j.biopsych.2005.05.003 · Cited by 361
Self-citationHalmi, K. A., Sunday, S. R., Strober, M. A., Kaplan, A., Woodside, D. B., Fichter, M. M., Treasure, J. L., Berrettini, W. H., & Kaye, W. H. (2000) · American Journal of Psychiatry · doi:10.1176/appi.ajp.157.11.1799 · Cited by 343
Self-citationBacanu, S.-A., Devlin, B., & Roeder, K. (2000) · The American Journal of Human Genetics · doi:10.1086/302929 · Cited by 340
Self-citationThe Relation Between Eating Disorders and Components of Perfectionism
Bulik, C. M., Tozzi, F., Anderson, C., Mazzeo, S. E., Aggen, S., & Sullivan, P. F. (2003) · American Journal of Psychiatry · doi:10.1176/appi.ajp.160.2.366 · Cited by 303
Self-citationGenetic and environmental influences on anorexia nervosa syndromes in a population–based twin sample
Klump, K. L., Miller, K. B., Keel, P. K., McGue, M. K., & Iacono, W. G. (2001) · Psychological Medicine · doi:10.1017/s0033291701003725 · Cited by 283
Blum, K., Sheridan, P. J., Wood, R. C., Braverman, E. R., Chen, T. J. H., & Comings, D. E. (1995) · Pharmacogenetics · doi:10.1097/00008571-199506000-00001 · Cited by 279
Prominence of the dopamine D2 short isoform in dopaminergic pathways
Khan, Z. U., Mrzljak, L., Gutierrez, A., de la Calle, A., & Goldman-Rakic, P. S. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.13.7731 · Cited by 278
Brain reward circuitry: Four circuit elements “wired” in apparent series
Wise, R. A., & Bozarth, M. A. (1984) · Brain Research Bulletin · doi:10.1016/0361-9230(84)90190-4 · Cited by 260
Hyperactivity in anorexia nervosa: A fundamental clinical feature
Kron, L., Katz, J. L., Gorzynski, G., & Weiner, H. (1978) · Comprehensive Psychiatry · doi:10.1016/0010-440x(78)90072-x · Cited by 252
Drs. Sullivan and Youngner Reply
Sullivan, M. D., & Youngner, S. J. (1995) · American Journal of Psychiatry · doi:10.1176/ajp.152.10.1533 · Cited by 251
Feeding behavior in dopamine-deficient mice
Szczypka, M. S., Rainey, M. A., Kim, D. S., Alaynick, W. A., Marck, B. T., Matsumoto, A. M., & Palmiter, R. D. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.21.12138 · Cited by 242
Sensitivity to the rewarding effects of food and exercise in the eating disorders
Davis, C., & Woodside, D. B. (2002) · Comprehensive Psychiatry · doi:10.1053/comp.2002.32356 · Cited by 238
Self-citationEvidence for a Susceptibility Gene for Anorexia Nervosa on Chromosome 1
Grice, D. E., Halmi, K. A., Fichter, M. M., Strober, M., Woodside, D. B., Treasure, J. T., Kaplan, A. S., Magistretti, P. J., Goldman, D., Bulik, C. M., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/339250 · Cited by 222 · cited 1×
“Finally, based on the results of published linkage analyses (Grice et al, 2002; Devlin et al, 2002) of these samples, DRD2 (at 11q22) does not lie in a compelling linkage region.”
Self-citationA global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus
Kidd, K., Morar, B., Castiglione, C., Zhao, H.-Y., Pakstis, A., Speed, W. C., Bonné-Tamir, B., Lu, R., Goldman, D., Lee, C., et al. (1998) · Human Genetics · doi:10.1007/s004390050809 · Cited by 202
Self-citationAltered Dopamine Activity after Recovery from Restricting-Type Anorexia Nervosa
Kaye, W. H. (1999) · Neuropsychopharmacology · doi:10.1016/s0893-133x(99)00053-6 · Cited by 194
Self-citationLinkage analysis of anorexia nervosa incorporating behavioral covariates
Devlin, B. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.6.689 · Cited by 161
Self-citationBergen, A. W., van den Bree, M. B. M., Yeager, M., Welch, R., Ganjei, J. K., Haque, K. A., Bacanu, S., Berrettini, W. H., Grice, D. E., Goldman, D. A., et al. (2003) · Molecular Psychiatry · doi:10.1038/sj.mp.4001318 · Cited by 157
Self-citationSalamone, J. D. (1996) · Journal of Neuroscience Methods · doi:10.1016/0165-0270(95)00125-5 · Cited by 156
A Structural Polymorphism of Human Dopamine D2 Receptor D2(Ser311 → Cys)
Itokawa, M., Arinami, T., Futamura, N., Hamaguchi, H., & Toru, M. (1993) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1993.2404 · Cited by 139
A preliminary population-based twin study of self-reported eating disorder
Kortegaard, L. S., Hørder, K., Joergensen, J. S., Gillberg, C., & Kyvik, K. O. (2001) · Psychological Medicine · doi:10.1017/s0033291701003087 · Cited by 137
Dopamine is required for hyperphagia in Lepob/ob mice
Szczypka, M. S., Rainey, M. A., & Palmiter, R. D. (2000) · Nature Genetics · doi:10.1038/75484 · Cited by 134
Functional Analysis of the Human D2 Dopamine Receptor Missense Variants
Cravchik, A., Sibley, D. R., & Gejman, P. V. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.42.26013 · Cited by 127
Power Calculations for a General Class of Family-Based Association Tests: Dichotomous Traits
Lange, C., & Laird, N. M. (2002) · The American Journal of Human Genetics · doi:10.1086/342406 · Cited by 119
A search for susceptibility loci for anorexia nervosa: methods and sample description
Kaye, W. H., Lilenfeld, L. R., Berrettini, W. H., Strober, M., Devlin, B., Klump, K. L., Goldman, D., Bulik, C. M., Halmi, K. A., Fichter, M. M., et al. (2000) · Biological Psychiatry · doi:10.1016/s0006-3223(99)00240-1 · Cited by 116
Self-citationSarkar, G., Kapelner, S., Grandy, D. K., Marchionni, M. A., Civelli, O., Sobell, J. L., Heston, L. L., & Sommer, S. S. (1991) · Genomics · doi:10.1016/0888-7543(91)90096-w · Cited by 110
Lange, C., & Laird, N. M. (2002) · Genetic Epidemiology · doi:10.1002/gepi.209 · Cited by 108
Cravchik, A., & Goldman, D. A. (2000) · Archives of General Psychiatry · doi:10.1001/archpsyc.57.12.1105 · Cited by 94
Self-citationHigh-Throughput Single Nucleotide Polymorphism Genotyping by Fluorescent 5′ Exonuclease Assay
Morin, P. A., Saiz, R., & Monjazeb, A. (1999) · BioTechniques · doi:10.2144/99273rr02 · Cited by 86
Personality in Anorexia nervosa: An update and a theoretical integration
Sohlberg, S., & Strober, M. A. (1994) · Acta Psychiatrica Scandinavica · doi:10.1111/j.1600-0447.1994.tb05809.x · Cited by 67
Self-citationMukherjee, J., Yang, Z., Brown, T., Roemer, J., & Cooper, M. (1996) · Life Sciences · doi:10.1016/0024-3205(96)00348-7 · Cited by 41
Polymorphism of Dopamine Receptors and Transporter Genes in Neuropsychiatric Diseases
Fujiwara, Y., Yamaguchi, K., Tanaka, Y., Tomita, H., Shiro, Y., Kashihara, K., Sato, K., & Kuroda, S. (2008) · European Neurology · doi:10.1159/000113436 · Cited by 25
Candidate Gene Analysis of the Price Foundation Anorexia Nervosa Affected Relative Pair Dataset
Bergen, A. W., Yeager, M., Welch, R., Ganjei, J. K., Deep‐Soboslay, A., Haque, K. A., van den Bree, M. B. M., Goldman, D. A., Berrettini, W., & Kaye, W. H. (2003) · CNS & Neurological Disorders - Drug Targets · doi:10.2174/1568007033338760 · Cited by 14
Self-citationTelch (1994) · doi:10.1002/1098-108x(199401)15:1
Fichter (1998) · doi:10.1002/(sici)1098-108x(199811)24:3
Self-citation
Research works printed but not linked: 3
- Elston RC (2001). S.A.G.E. Statistical Analysis for Genetic Epidemiology. MetroHealth Campus, Case Western Reserve University: Cleveland.
- First MB, Gibbon M, Spitzer RL, Williams JB (1996). User's guide for the structured clinical interview for DSM IV axis I disorders-research version SCID-I, version 2.0. Biometrics Research, New York Stat Psychiatric Institute: New York.
- Schneider S, Roessli D, Excoffier L (2000). Arlequin Ver. 2.000: A Software for Population Genetic Analysis. Genetics and Biometry Laboratory, University of Geneva: Switzerland. http://anthro.unige.ch/alrequin .
Cited by
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Kaye, W. H., Fudge, J. L., & Paulus, M. (2009) · Nature Reviews Neuroscience · doi:10.1038/nrn2682 · Cited by 843
Self-citationNeurobiology of anorexia and bulimia nervosa
Kaye, W. (2008) · Physiology & Behavior · doi:10.1016/j.physbeh.2007.11.037 · Cited by 625
Self-citationSleep disturbance as transdiagnostic: Consideration of neurobiological mechanisms
Harvey, A. G., Murray, G., Chandler, R. A., & Soehner, A. (2011) · Clinical Psychology Review · doi:10.1016/j.cpr.2010.04.003 · Cited by 609
Frank, G. K., Bailer, U. F., Henry, S. E., Drevets, W., Meltzer, C. C., Price, J. C., Mathis, C. A., Wagner, A., Hoge, J., Ziolko, S., et al. (2005) · Biological Psychiatry · doi:10.1016/j.biopsych.2005.05.003 · Cited by 361
Self-citationAltered Reward Processing in Women Recovered From Anorexia Nervosa
Wagner, A., Aizenstein, H., Venkatraman, V. K., Fudge, J., May, J. C., Mazurkewicz, L., Frank, G. K., Bailer, U. F., Fischer, L., Nguyen, V., et al. (2007) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2007.07040575 · Cited by 342
Self-citation
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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