This Article  • References  • Full text PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Contact me when this article is cited  Related Content  • Similar articles in JAMA  Social Bookmarking   What's this?

Kenneth Blum, PhD; Ernest P. Noble, PhD, MD; Peter J. Sheridan, PhD; Anne Montgomery, MSc; Terry Ritchie, PhD; Pudur Jagadeeswaran, PhD; Harou Nogami, PhD; Arthur H. Briggs, MD; Jay B. Cohn, MD, PhD

JAMA. 1990;263(15):2055-2060.

Abstract
In a blinded experiment, we report the first allelic association of the dopamine D₂ receptor gene in alcoholism. From 70 brain samples of alcoholics and nonalcoholics, DNA was digested with restriction endonucleases and probed with a clone that contained the entire 3' coding exon, the polyadenylation signal, and approximately 16.4 kilobases of noncoding 3' sequence of the human dopamine D₂ receptor gene (hD2G1). In the present samples, the presence of A1 allele of the dopamine D₂ receptor gene correctly classified 77% of alcoholics, and its absence classified 72% of nonalcoholics. The polymorphic pattern of this receptor gene suggests that a gene that confers susceptibility to at least one form of alcoholism is located on the q22-q23 region of chromosome 11.

(JAMA. 1990;263:2055-2060)

Author Affiliations
From the Laboratory of Pharmacogenetics, Division of Addictive Diseases, Department of Pharmacology (Drs Blum and Briggs and Ms Montgomery) and the Department of Cellular and Structural Biology (Drs Sheridan, Jagadeeswaran, and Nogami), University of Texas Health Science Center, San Antonio; and the Alcohol Research Center, Neuropsychiatric Institute and Brain Research Institute, University of California, Los Angeles (Drs Noble, Ritchie, and Cohn).

Footnotes
Reprint requests to Department of Pharmacology, University of Texas Health Science Center, San Antonio, TX 78284 (Dr Blum).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

All in the Family: Gene x Environment Interaction Between DRD2 and Criminal Father Is Associated With Five Antisocial Phenotypes
DeLisi et al.
Criminal Justice and Behavior 2009;36:1187-1197.
ABSTRACT  

Dopamine D2 Receptor Genotype Is Associated with Increased Mortality at a 10-Year Follow-up of Alcohol-Dependent Individuals
Berggren et al.
Alcohol Alcohol 2009;0:agp041v1-agp041.
ABSTRACT | FULL TEXT  

Association of the DRD2 gene Taq1A polymorphism and smoking behavior: a meta-analysis and new data
Munafo et al.
Nicotine Tob Res 2009;0:ntn012v1-ntn012.
ABSTRACT | FULL TEXT  

DRD2 and ANKK1 genotype in alcohol-dependent patients with psychopathic traits: association and interaction study
Ponce et al.
Br. J. Psychiatry 2008;193:121-125.
ABSTRACT | FULL TEXT  

Nanomolar Propofol Stimulates Glutamate Transmission to Dopamine Neurons: A Possible Mechanism of Abuse Potential?
Li et al.
J. Pharmacol. Exp. Ther. 2008;325:165-174.
ABSTRACT | FULL TEXT  

Meta-Analysis of the Association of the Taq1A Polymorphism with the Risk of Alcohol Dependency: A HuGE Gene-Disease Association Review
Smith et al.
Am J Epidemiol 2008;167:125-138.
ABSTRACT | FULL TEXT  

Association of haplotypic variants in DRD2, ANKK1, TTC12 and NCAM1 to alcohol dependence in independent case control and family samples
Yang et al.
Hum Mol Genet 2007;16:2844-2853.
ABSTRACT | FULL TEXT  

THE TAQI DRD2 A1 ALLELE IS ASSOCIATED WITH ALCOHOL-DEPENDENCE ALTHOUGH ITS EFFECT SIZE IS SMALL
BERGGREN et al.
Alcohol Alcohol 2006;41:479-485.
ABSTRACT | FULL TEXT  

Genetic Dissection of Complex Traits
Lander and Schork
Focus 2006;4:442.
ABSTRACT | FULL TEXT  

Genetic approaches to alcohol dependence
Ball
Br. J. Psychiatry 2004;185:449-451.
FULL TEXT  

Association of Specific Haplotypes of D2 Dopamine Receptor Gene With Vulnerability to Heroin Dependence in 2 Distinct Populations
Xu et al.
Arch Gen Psychiatry 2004;61:597-606.
ABSTRACT | FULL TEXT  

ASSOCIATION OF CHOLECYSTOKININ-A RECEPTOR GENE POLYMORPHISM WITH ALCOHOL DEPENDENCE IN A JAPANESE POPULATION
Miyasaka et al.
Alcohol Alcohol 2004;39:25-28.
ABSTRACT | FULL TEXT  

Nonreplication in Genetic Association Studies of Obesity and Diabetes Research
Redden and Allison
J. Nutr. 2003;133:3323-3326.
ABSTRACT | FULL TEXT  

The Genetic Determinants of Smoking
Batra et al.
Chest 2003;123:1730-1739.
ABSTRACT | FULL TEXT  

Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor
Duan et al.
Hum Mol Genet 2003;12:205-216.
ABSTRACT | FULL TEXT  

Point: Population Stratification: A Problem for Case-Control Studies of Candidate-Gene Associations?
Thomas and Witte
Cancer Epidemiol. Biomarkers Prev. 2002;11:505-512.
FULL TEXT  

Association between the Dopamine D2 Receptor A2/A2 Genotype and Smoking Behavior in the Japanese
Yoshida et al.
Cancer Epidemiol. Biomarkers Prev. 2001;10:403-405.
ABSTRACT | FULL TEXT  

Population Admixture: Detection by Hardy-Weinberg Test and Its Quantitative Effects on Linkage-Disequilibrium Methods for Localizing Genes Underlying Complex Traits
Deng et al.
Genetics 2001;157:885-897.
ABSTRACT | FULL TEXT  

Outpatient Management of Patients with Alcohol Problems
Fiellin et al.
ANN INTERN MED 2000;133:815-827.
ABSTRACT | FULL TEXT  

D2 Dopamine Receptor Gene Polymorphisms among African-Americans and Mexican-Americans: A Lung Cancer Case-Control Study
Wu et al.
Cancer Epidemiol. Biomarkers Prev. 2000;9:1021-1026.
ABSTRACT | FULL TEXT  

ALCOHOLICS WITH THE DOPAMINE RECEPTOR DRD2 A1 ALLELE HAVE LOWER PLATELET MONOAMINE OXIDASE-B ACTIVITY THAN THOSE WITH THE A2 ALLELE: A PRELIMINARY STUDY
Eriksson et al.
Alcohol Alcohol 2000;35:493-498.
ABSTRACT | FULL TEXT  

Medications for Alcohol Dependence--New Vistas
Kranzler
JAMA 2000;284:1016-1017.
FULL TEXT  

Population Stratification in Epidemiologic Studies of Common Genetic Variants and Cancer: Quantification of Bias
Wacholder et al.
JNCI J Natl Cancer Inst 2000;92:1151-1158.
ABSTRACT | FULL TEXT  

The Biology of Culpability:: Pathological Identity and Crime Control in a Biological Culture
ROSE
Theoretical Criminology 2000;4:5-34.
ABSTRACT  

Design of Gene Characterization Studies: an Overview
Thomas
J Natl Cancer Inst Monogr 1999;1999:17-23.
ABSTRACT | FULL TEXT  

Genetic Susceptibility to Neurodevelopmental Disorders
Ryan
J Child Neurol 1999;14:187-195.
ABSTRACT  

Genetic and Environmental Contributions to Alcohol Abuse and Dependence in a Population-Based Sample of Male Twins
Prescott and Kendler
Am. J. Psychiatry 1999;156:34-40.
ABSTRACT | FULL TEXT  

Substance Abuse in Children: Prediction, Protection, and Prevention
Belcher and Shinitzky
Arch Pediatr Adolesc Med 1998;152:952-960.
ABSTRACT | FULL TEXT  

A Tryptophan Hydroxylase Gene Marker for Suicidality and Alcoholism
Nielsen et al.
Arch Gen Psychiatry 1998;55:593-602.
ABSTRACT | FULL TEXT  

Modification of Alcohol Withdrawal by the A9 Allele of the Dopamine Transporter Gene
Schmidt et al.
Am. J. Psychiatry 1998;155:474-478.
ABSTRACT | FULL TEXT  

Fatty acid ethyl esters: short-term and long-term serum markers of ethanol intake
Laposata
Clin. Chem. 1997;43:1527-1534.
ABSTRACT | FULL TEXT  

Functional Analysis of the Human D2 Dopamine Receptor Missense Variants
Cravchik et al.
J. Biol. Chem. 1996;271:26013-26017.
ABSTRACT | FULL TEXT  

Medical Disorders of Alcoholism
Lieber
NEJM 1995;333:1058-1065.
FULL TEXT  

A Man With Alcoholism and HIV Infection
Hyman
JAMA 1995;274:837-843.
ABSTRACT  

D2 Dopamine Receptor Alleles Do Not Influence Severity of Tourette's Syndrome: Results From Four Large Kindreds
Gelernter et al.
Arch Neurol 1994;51:397-400.
ABSTRACT  

No Structural Mutation in the Dopamine D2 Receptor Gene in Alcoholism or Schizophrenia: Analysis Using Denaturing Gradient Gel Electrophoresis
Gejman et al.
JAMA 1994;271:204-208.
ABSTRACT  

Alcoholism and the D2 Dopamine Receptor Gene
Noble and Blum
JAMA 1993;270:1547-1547.
ABSTRACT  

Schizophrenia as a Brain Disease: The Dopamine Receptor Story
Seeman
Arch Neurol 1993;50:1093-1095.
ABSTRACT  

Progress in Psychiatry- First of Two Parts
Michels and Marzuk
NEJM 1993;329:552-560.
FULL TEXT  

The A1 Allele at the D2 Dopamine Receptor Gene and Alcoholism: A Reappraisal
Gelernter et al.
JAMA 1993;269:1673-1677.
ABSTRACT  

Genetic Vulnerability to Drug Abuse: The D2 Dopamine Receptor Taq I B1 Restriction Fragment Length Polymorphism Appears More Frequently in Polysubstance Abusers
Smith et al.
Arch Gen Psychiatry 1992;49:723-727.
ABSTRACT  

Addiction Medicine
Frances and Franklin
JAMA 1992;268:330-332.
ABSTRACT  

Current Excitement With D2 Dopamine Receptor Gene Alleles in Substance Abuse
Uhl et al.
Arch Gen Psychiatry 1992;49:157-160.
ABSTRACT  

The Dopamine D2 Receptor Locus as a Modifying Gene in Neuropsychiatric Disorders
Comings et al.
JAMA 1991;266:1793-1800.
ABSTRACT  

NO Association Between an Allele at the D2 Dopamine Receptor Gene (DRD2) and Alcoholism
Gelernter et al.
JAMA 1991;266:1801-1807.
ABSTRACT  

D2 Dopamine Receptor Gene Is Associated but Not Linked With Alcoholism
Cloninger
JAMA 1991;266:1833-1834.
ABSTRACT  

Association Between the D2 Dopamine Receptor Gene and Alcoholism: A Continuing Controversy
Conneally
Arch Gen Psychiatry 1991;48:757-759.
ABSTRACT  

Allelic Association of the D2 Dopamine Receptor Gene With Receptor-Binding Characteristics in Alcoholism or Gene ism
Noble et al.
Arch Gen Psychiatry 1991;48:648-654.
ABSTRACT  

Alcoholism and Alleles of the Human D2 Dopamine Receptor Locus: Studies of Association and Linkage
Parsian et al.
Arch Gen Psychiatry 1991;48:655-663.
ABSTRACT  

Association Between the D2 Dopamine Receptor Gene and Alcoholism: A Continuing Controversy
Conneally
Arch Gen Psychiatry 1991;48:664-666.
ABSTRACT  

Substance Abuse
Frances
JAMA 1991;265:3171-3172.
ABSTRACT  

The Dopamine D2 Receptor Gene and Alcoholism
Noble and Blum
JAMA 1991;265:2667-2667.
ABSTRACT  

The Dopamine D2 Receptor Gene and Alcoholism-Reply
Goldman et al.
JAMA 1991;265:2668-2668.
ABSTRACT  

The Dopamine D2 Receptor Gene and Alcoholism
Smith et al.
JAMA 1991;265:2667-2668.
ABSTRACT  

Should Alcoholics Compete Equally for Liver Transplantation?
Moss and Siegler
JAMA 1991;265:1295-1298.
ABSTRACT  

Quantitative trait loci and psychopharmacology
Plomin et al.
J Psychopharmacol 1991;5:1-9.
ABSTRACT  

Identifying genes determining trait differences in behavior and drug response: a comment on 'Quantitative trait loci and psychopharmacology'
Goldman and Filling-Katz
J Psychopharmacol 1991;5:11-17.
ABSTRACT  

Heterogeneity in the Inheritance of Alcoholism: A Study of Male and Female Twins
Pickens et al.
Arch Gen Psychiatry 1991;48:19-28.
ABSTRACT  

Population and Pedigree Studies Reveal a Lack of Association Between the Dopamine D2 Receptor Gene and Alcoholism
Bolos et al.
JAMA 1990;264:3156-3160.
ABSTRACT  

Blue Mood, Blackened Lungs: Depression and Smoking
Glass
JAMA 1990;264:1583-1584.
ABSTRACT  

A GENE FOR ALCOHOLISM
JWatch General 1990;1990:1-1.
FULL TEXT  

Finding the Gene(s) for Alcoholism
Gordis et al.
JAMA 1990;263:2094-2095.
ABSTRACT