Polymorphisms in the DBH and DRD2 gene regions and smoking behavior
European Archives of Psychiatry and Clinical NeurosciencePublished 19 July 2005
M. T. M. V. Freire, Francine Z. Marques, Mara Helena Hutz, Claiton H.D. Bau
Citations49
SJR quartileQ1
SJR score1.59
SNIP1.37
Generate an AI Snapshot to get a quick, structured summary of this paper.
Study Snapshot
ObjectiveStudy objective
MethodsResearch methodology
PopulationPopulation studied
Sample sizeSample sizes
OutcomesStudy outcomes here
ResultsStudy results comes here
LimitationsResearch study limitations comes here
A concise AI-generated summary of the paper will appear here once you click Generate AI Snapshot.
TL;DR
Results are coherent with the expected effects of these polymorphisms on dopaminergic function and individuals who had at least one DBH–1021 T allele smoked fewer cigarettes per day than CC homozygotes.
Abstract
The DRD2 TaqI A and DBH-1021 C/T polymorphisms were genotyped in smoking alcoholics (N = 100), non-alcoholic smokers (N = 120) and nonsmoking controls (N = 112). Alcoholic and non-alcoholic smokers presented a higher frequency of the DRD2 TaqI A1 allele (P = 0.04) than non-smoking controls. Individuals who had at least one DBH-1021 T allele smoked fewer cigarettes per day than CC homozygotes (P = 0.03). These results are coherent with the expected effects of these polymorphisms on dopaminergic function.
Keywords
MedicineNeuroscienceBiochemistry, Genetics and Molecular Biology
Encyclopedia of Social WorkDiagnostic and Statistical Manual of Mental Disorders
109,983 Citations2013Janet B. W. Williams, Michael B. First
JAMADetecting Alcoholism
2,957 Citations1984John A. Ewing
Four clinical interview questions, the CAGE questions, have proved useful in helping to make a diagnosis of alcoholism and their use in clinical and research studies is described.
Nucleic Acids ResearchA rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies
2,308 Citations1991Debomoy K. Lahiri, John I. Numberger
The procedure reported here is the most economical, safe and rapid for preparation of DNA from whole blood and eliminates completely the use of proteinase K treatment.
Journal of Studies on AlcoholA new, semi-structured psychiatric interview for use in genetic linkage studies: a report on the reliability of the SSAGA.
1,799 Citations1994Kathleen K. Bucholz, Remi J. Cadoret +7 more
Although SSAGA was designed to provide for broad phenotyping of alcoholism, review of its new features suggests its suitability for a variety of family studies, not just those focusing on substance abuse.
Molecular PsychiatryPolymorphisms in the dopamine D2 receptor gene and their relationships to striatal dopamine receptor density of healthy volunteers
727 Citations1999Erik G. Jönsson, Markus M. Nöthen +5 more
The results suggest that DRD2 genotypes may participate differentially in the regulation of striatal dopamine D2 receptor density in healthy human subjects.
Molecular PsychiatryThe A1 allele of the human D2 dopamine receptor gene predicts low D2 receptor availability in healthy volunteers
683 Citations1998Tiina Pohjalainen, Juha O. Rinne +5 more
The association between the A1 allele and low D2 receptor availability in healthy subjects indicates that the A 1 allele of the TaqIA polymorphism might be in linkage disequilibrium with a mutation in the promoter/regulatory gene element that affects dopamine D2 receptors expression.
Archives of General PsychiatryAllelic Association of the D2 Dopamine Receptor Gene With Receptor-Binding Characteristics in Alcoholism or Gene ism
662 Citations1991Ernest P. Noble
The polymorphic pattern of the D2 dopamine receptor gene and its differential expression of receptors suggests the involvement of the dopaminergic system in conferring susceptibility to at least one subtype of severe alcoholism.
Human MutationIdentification and characterization of ANKK1: A novel kinase gene closely linked to DRD2 on chromosome band 11q23.1
617 Citations2004Matt J. Neville, Elaine Johnstone +1 more
The DRD2 Taq1A RFLP is a single nucleotide polymorphism (SNP) that causes an amino acid substitution within the 11th ankyrin repeat of ANKK1 (p.Glu713Lys), which, while unlikely to affect structural integrity, may affect substrate‐binding specificity.
PharmacogeneticsD2 dopamine receptor gene (DRD2) Taql A polymorphism: reduced dopamine D2 receptor binding in the human striatum associated with the A1 allele
557 Citations1997J. Thompson, Natalie Thomas +8 more
A genetic predisposition to lower D2 receptor expression may increase susceptibility to neuroleptic medication or clinical symptoms that are associated with diseases involving dopaminergic pathology.
Drug and Alcohol DependenceStages in the development of adolescent smoking
532 Citations2000Kathryn P Mayhew, Brian R. Flay +1 more
Empirical studies of predictors of transitions in stages of smoking progression are reviewed, and similarities and differences related to predictor of stages and transitions across studies are identified.
American Journal of Medical Genetics Part B Neuropsychiatric GeneticsD2 dopamine receptor gene in psychiatric and neurologic disorders and its phenotypes
503 Citations2002Ernest P. Noble
The involvement of the DRD2 gene in certain neuropsychiatric disorders opens up the potential of a targeted pharmacogenomic approach to the treatment of these disorders.
Archives of General PsychiatryCommon Genetic Vulnerability for Nicotine and Alcohol Dependence in Men
467 Citations1999William R. True, Hong Xian +8 more
A common genetic vulnerability to nicotine and alcohol dependence in men is suggested, which may partially explain the clinical and epidemiological observations that alcoholics are often dependent smokers.
PubMedThe human dopamine D2 receptor gene is located on chromosome 11 at q22-q23 and identifies a TaqI RFLP.
424 Citations1989D. K. Grandy, M. Litt +7 more
A search for RFLPs associated with D2DR identified a frequent two-allele TaqI RFLP that binds to the q22-q23 junction of chromosome 11 and is associated with antipsychotic drugs.
Nicotine & Tobacco ResearchThe genetic basis for smoking behavior: A systematic review and meta-analysis
314 Citations2004Marcus R. Munafò, Taane G. Clark +3 more
The evidence for an effect of specific genes was modest, however, and evidence indicated substantial between-study heterogeneity in most cases, with the exception of the effects of the 5HTT and CYP2A6 genes on smoking cessation.
The American Journal of Human GeneticsA Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus
270 Citations2001Cyrus P. Zabetian, George Anderson +9 more
It is demonstrated that --1021C-->T is a major genetic marker for plasma-D beta H activity and provide new tools for investigation of the role of both D beta H and the DBH gene in human disease.
Human Molecular GeneticsPCR detection of the TaqA RFLP at the DRD2 locus
248 Citations1993David K. Grandy, Y. Zhang +1 more
Cambridge University Press eBooksThe Evolution and Genetics of Latin American Populations
225 Citations2001Francisco M. Salzano, María Cátira Bortolini
Molecular PsychiatryA haplotype at the DBH locus, associated with low plasma dopamine β-hydroxylase activity, also associates with cocaine-induced paranoia
180 Citations2000J.F. Cubells, Henry R. Kranzler +5 more
The two DBH polymorphisms studied are associated with plasma DBH levels; those two polymorphisms are in significant linkage disequilibrium in European Americans; and the haplotype associated with low DBH activity is also associated with cocaine-induced paranoia.
PsychopharmacologyHuman genetics of plasma dopamine ?-hydroxylase activity: applications to research in psychiatry and neurology
167 Citations2004J.F. Cubells, Cyrus P. Zabetian
A model is proposed, in which lower levels of D βH protein may lead to elevated ratios of DA to NE, which may explain associations between lower plasma DβH activity and vulnerability to psychotic symptoms.
American Journal of Medical GeneticsD2 dopamine receptor polymorphism and brain regional glucose metabolism
162 Citations1997Ernest P. Noble, Louis A. Gottschalk +3 more
PharmacogeneticsGenetic variation in dopaminergic pathways and short-term effectiveness of the nicotine patch
142 Citations2004Elaine Johnstone, P Yudkin +6 more
The results support the need for further investigation into personalized therapies for smoking cessation based on individual genotype and suggest short-term effectiveness of the nicotine patch may be related to dopamine beta-hydroxylase and dopamine D2 receptor genotype.
Human GeneticsDopamine β-hydroxylase: two polymorphisms in linkage disequilibrium at the structural gene DBH associate with biochemical phenotypic variation
136 Citations1998Joseph F. Cubells, Daniël P. van Kammen +9 more
The results confirm thatDBH is a major quantitative trait locus for plasma DβH activity, and provide the first direct evidence that DBH also influences CSF D βH levels.
Schizophrenia ResearchThe 3′ region of the DRD2 gene is involved in genetic susceptibility to schizophrenia
127 Citations2003Caroline Dubertret
The data are in favor of a specific role of the 3' chromosomic region of the DRD2 gene in the vulnerability to schizophrenia.
Nicotine & Tobacco ResearchEffects of quitting smoking on EEG activation and attention last for more than 31 days and are more severe with stress, dependence, DRD2 A1 allele, and depressive traits
121 Citations2004David G. Gilbert, F. Joseph McClernon +7 more
Findings support the situation x trait adaptive response model of abstinence effects and emphasize the value of multiple dependent measures when characterizing abstinence responses.
PharmacogeneticsAssociation between polymorphisms in dopamine metabolic enzymes and tobacco consumption in smokers.
121 Citations2000Eoin McKinney, Robert Walton +7 more
The view that these enzymes help to determine a smoker's requirement for nicotine and may explain why some people are predisposed to tobacco addiction and why some find it very difficult to stop smoking is supported.
Clinical GeneticsProgress in searching for susceptibility loci and genes for smoking‐related behaviour
119 Citations2004MD Li, JZ Ma +1 more
Linkage analyses from several independent studies provide evidences for suggested linkage of smoking behaviour to chromosomes 1, 2, 4, 5, 6, 9, 10, 11, 14, 17, 18 and 21, but more studies are necessary to determine whether these genes play a significant role in smoking behaviour.
American Journal of Medical GeneticsThe TaqI A1 allele of the dopamine D2 receptor gene and alcoholism in Brazil: Association and interaction with stress and harm avoidance on severity prediction
105 Citations2000Claiton H.D. Bau, Silvana Almeida +1 more
The DRD2 TaqI A1 allele showed significant interaction with stress and harm avoidance in predicting the severity of physiologic dependence, and with harm avoidance for the number of antisocial personality symptoms.
Cytogenetics and Cell GeneticsLocalization of the human dopamine beta hydroxylase (DBH) gene to chromosome 9q34
95 Citations2008S.P. Craig, Veronica J. Buckle +3 more
Both biochemical and genetic evidence indicate independence of DBH from the pterin-dependent aromatic amino acid hydroxylases of the neurotransmitter pathways.
The American Journal of Human GeneticsThe Structure of Linkage Disequilibrium at the DBH Locus Strongly Influences the Magnitude of Association between Diallelic Markers and Plasma Dopamine β-Hydroxylase Activity
87 Citations2003Cyrus P. Zabetian, Sarah G. Buxbaum +5 more
The results of this study provide a direct example of the potential value of constructing a haplotype map of the human genome prior to embarking on large-scale association studies.
Tobacco ControlShort term patterns of early smoking acquisition
79 Citations2004Robert J. Wellman, Joseph R. DiFranza +2 more
Movement to heavier, more frequent smoking is generally unidirectional, although many youths attempt to quit one or more times, and the appearance of any symptom of dependence altered the subsequent pattern of smoking behaviour.
Biological PsychiatryA genotype-controlled analysis of plasma dopamine β-hydroxylase in healthy and alcoholic subjects: evidence for alcohol-related differences in noradrenergic function
77 Citations2002Michael D. Köhnke, Cyrus P. Zabetian +9 more
The data indicate that the alcoholism-related reduction in plasma DbetaH activity is independent of genotype at DBH-1021C-->T and replicate the finding that DBH/T is strongly associated with plasma D betaH activity in a native Western European population.
Addictive BehaviorsTopiramate-induced neuromodulation of cortico–mesolimbic dopamine function: A new vista for the treatment of comorbid alcohol and nicotine dependence?
71 Citations2004Bankole A. Johnson
The results of the proof-of-concept study showed that topiramate is a promising medication for the treatment of both alcohol and nicotine dependence, presumably by its ability to modulate cortico-mesolimbic dopamine function profoundly; however, other mechanisms might also contribute to this effect.
Biological PsychiatryGenotype-controlled analysis of plasma dopamine β-hydroxylase activity in psychotic unipolar major depression
61 Citations2002Joseph F. Cubells, Lawrence H. Price +10 more
It is hypothesized that abnormal regulation of hypothalamic-pituitary-adrenal function in UDPF lowers expression of DbetaH protein, which could in turn alter the ratio of dopamine and norepinephrine in noradrenergic neurons, thereby promoting development of psychotic symptoms.
Journal of the American Academy of Child PsychiatryClinical Characteristics of Emotionally Disturbed Boys with Very Low Activities of Dopamine-β-hydroxylase
54 Citations1984Graham A. Rogeness, José Manuel Hernández +4 more
An association between zero DβH and a cluster of symptoms, and the diagnoses of conduct disorder, undersocialized, and borderline personality disorder is reported.
Nicotine & Tobacco ResearchWhat's new in Nicotine & Tobacco Research ?
52 Citations2004Edited by Richard Hébert
Journal of the American Academy of Child PsychiatryNear-Zero Plasma Dopamine-β-Hydroxylase and Conduct Disorder in Emotionally Disturbed Boys
48 Citations1986Graham A. Rogeness, José Manuel Hernández +3 more
Psychiatry ResearchLow dopamine-beta-hydroxylase: A biological sequela of abuse and neglect?
39 Citations1991Matthew Galvin, Anantha Shekhar +6 more
Results supported earlier findings that undersocialized types of conduct disorder in boys were correlated with low DBH activity and suggested low serum DBH may be a biological sequela of seriously disrupted attachment.
Journal of the American Academy of Child & Adolescent PsychiatryDiagnoses, Catecholamine Metabolism, and Plasma Dopamine-β-Hydroxylase
36 Citations1988Graham A. Rogeness, James W. Maas +4 more
The results show differences in norephinephrine metabolism in the low group, and the high group had more diagnoses of Dysthymic Disorder and Separation Anxiety Disorder.
NeuroImageImaging localised dynamic changes in the nucleus accumbens following nicotine withdrawal in rats
32 Citations2004Mohammed Shoaib, Andrew Lowe +1 more
This fMRI study further highlights the potential and power to image the neurobiological events during nicotine dependence and is consistent with previous neurochemical reports on decreases in dopamine in the NAc during nicotine withdrawal.
Biological PsychiatryPlasma dopamine-β-hydroxylase, HVA, MHPG, and conduct disorder in emotionally disturbed boys
28 Citations1987Graham A. Rogeness, Martin A. Javors +3 more
Emotionally disturbed boys with conduct disorder undersocialized (CDU) have lower plasma dopamine-B-hydroxylase (DBH) than boys with other disorders and controls, indicating an association between conduct disorder symptoms and low DBH activity.
Biological PsychiatryIs the polymorphic microsatellite repeat of the dopamine β-hydroxylase gene associated with biochemical variability of the catecholamine pathway in schizophrenia?
25 Citations1997Jun Wei, Haimin Xu +2 more
The results suggest that genotypic polymorphism of the human DBH is likely to be associated with biochemical variability of the catecholamine pathway in schizophrenia.
PharmacogeneticsPolymorphisms in dopamine metabolic enzymes and tobacco consumption in smokers: seeking confirmation of the association in a follow-up study.
22 Citations2002Elaine Johnstone, Taane G. Clark +3 more
Psychiatric GeneticsTaqI polymorphic sites at the human dopamine β-hydroxylase gene possibly associated with biochemical alterations of the catecholamine pathway in schizophrenia
16 Citations1998Jun Wei, C.N. Ramchand +1 more
The frequencies of the two Taql polymorphic sites did not show significant differences between the patients and control subjects, but the Taql RFLPs were found to be associated with biochemical alterations of the catecholamine pathway in schizophrenia.
Biological PsychiatryPlatelet MAO-B and endogenous MAO-a inhibitory activity in depressed patients: Stability with electroconvulsive treatment
12 Citations1987Pamela L. Moriearty, C. E. Herrick +3 more
Though the efficacy of electroconvulsive therapy in treatment of major depression has been repeatedly documented, present data do not permit a conclusive description of the mechanisms underlying the therapeutic effects.