rs1076560

This is a downstream gene variant variant in the DRD2 gene.

ClinVar annotation

Likely Benign★★★
3 submitters2 publications

Dystonic disorder

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Research that mentions this SNP (11)

Longitudinal predictors of cannabis use and dependence in offspring from families at ultra high risk for alcohol dependence and in control families
AssociationN=338Shirley Y. Hill et al.(2016)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

A longitudinal prospective study of 338 young adult offspring from families at high and low risk for alcohol dependence examined predictors of cannabis use patterns and cannabis abuse/dependence from ages 8-30. A low P300 amplitude trajectory in childhood predicted cannabis abuse/dependence in males (P=0.01). A four-SNP ANKK1-DRD2 haplotype (rs4938012-rs4938015-rs1800497-rs6277, G-G-G-C) was significantly associated with cannabis use frequency patterns (P=0.0008). Among individuals with cannabis abuse/dependence, the CNR1 rs806368 A>G minor allele conferred a 5.4-fold increase in likelihood of frequent persistent use versus declining use (P=0.003, OR=5.4).

Traits studied:Cannabis abuseCannabis dependenceCannabis useSubstance use disorder
The relationship between polymorphisms of BDNFOS and BDNF genes and heroin addiction in the Han Chinese population
ReviewTianbo Jin et al.(2016)· The Journal of Gene Medicine

This review examines neurogenetic and neuropharmacological correlates of opioid use disorder (OUD) with emphasis on ancestry-specific genetic risk profiles. The paper identifies multiple genes involved in the reward pathway (DRD2, DRD3, DRD4, OPRM1, OPRK1, OPRD1, BDNF, NRXN3, COMT, SLC6A4, KCNC1, KCNG2) and their variants associated with OUD susceptibility and treatment response across different ethnic populations, highlighting critical research disparities where African Americans and Hispanics have been underrepresented in genetic association studies.

Traits studied:Alcohol DependenceCocaine AddictionHeroin AddictionHeroin DependenceMethamphetamine DependenceMitochondrial DysfunctionNeonatal Abstinence SyndromeOpioid AddictionOpioid DependenceOpioid Use DisorderOxidative StressPain SensitivitySubstance Use Disorder
Strong protective effect of the aldehyde dehydrogenase gene (ALDH2) 504lys (*2) allele against alcoholism and alcohol-induced medical diseases in Asians
Meta-analysisN=17,009Dawei Li et al.(2012)· Human Genetics

Meta-analysis of 53 case-control studies (9,678 cases, 7,331 controls) examining ALDH2 rs671 (glu504lys) association with alcohol dependence and alcohol-induced diseases in predominantly East Asian populations. The protective 504lys allele showed strong protective effect with P = 3×10^-56 and OR = 0.23 (95% CI 0.2-0.28) for alcohol abuse/dependence, and P = 2×10^-28, OR = 0.23 (95% CI 0.18-0.3) for alcoholic liver disease, cirrhosis, or pancreatitis.

Traits studied:Alcohol abuseAlcohol dependenceAlcoholic cirrhosisAlcoholic liver diseaseAlcoholic pancreatitisEsophageal squamous cell carcinomaHeroin dependenceMean corpuscular hemoglobin concentration
Association of RANBP1 haplotype with smooth pursuit eye movement abnormality
ReviewHyun Sub Cheong et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This comprehensive review examines the genomics of schizophrenia and pharmacogenomics of antipsychotic drugs, synthesizing evidence on over 200 genes associated with psychotic disorders. The authors discuss five categories of genes relevant to antipsychotic response: disease-associated genes, mechanism-of-action genes, drug metabolism genes (particularly CYP2D6, CYP2C19, CYP2C9, CYP3A4), drug transporter genes, and pleiotropic genes. The review details pharmacogenomic profiles of 20+ antipsychotic drugs and demonstrates significant ethnic and interindividual variation in drug metabolism phenotypes, with examples including CYP2D6 extensive metabolizers (55.71% of population), intermediate metabolizers (34.7%), poor metabolizers (2.28%), and ultra-rapid metabolizers (7.31%).

Traits studied:Alzheimer diseaseAntipsychotic drug responseAntipsychotic drug side effectsAnxiety disordersBipolar disorderCNS disordersDepressive disorderParkinson's diseasePsychotic disordersSchizoaffective disorderSchizophreniaTardive dyskinesiaVascular dementia
Converging evidence implicates the dopamine D3 receptor gene in vulnerability to schizophrenia
AssociationN=446Fuquan Zhang et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

A pharmacogenetic study of 446 schizophrenic patients (221 males, 225 females) from West Siberia investigating associations between 41 SNPs in dopaminergic genes and antipsychotic-induced hyperprolactinemia. The study found rs1799836 in MAOB gene associated with hyperprolactinemia in males (OR=0.748, p=0.048), and rs40184 and rs3863145 in SLC6A3 gene associated with hyperprolactinemia in the risperidone/paliperidone subgroup (OR=0.341, p=0.021 and OR=0.362, p=0.043, respectively), indicating protective effects.

Traits studied:Antipsychotic-induced hyperprolactinemiaSchizophrenia
Influence of neurexin 1 (NRXN1) polymorphisms in clozapine response
ReviewRenan P. Souza et al.(2010)· Human Psychopharmacology: Clinical and Experimental

This systematic review of 98 studies examined biological predictors of clozapine response in treatment-resistant schizophrenia patients. Of 379 different gene variants investigated across 70 genetic studies, only three variants (DRD3 Ser9Gly rs6280, HTR2A His452Tyr, and GNB3 C825T) achieved independent replication. Non-genetic predictors included higher prefrontal cortical volumes and lower HVA:5-HIAA ratio in cerebrospinal fluid.

Traits studied:Clozapine responseSchizophreniaTreatment-resistant schizophrenia
Polymorphisms in the calcineurin genes are associated with the training responsiveness of cardiac phenotypes in Chinese young adults
AssociationN=102Zi-Hong He et al.(2010)· European Journal of Applied Physiology

This study examined 55 polymorphisms in five calcineurin genes (PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2) in 102 young Chinese men for associations with cardiac phenotypes at baseline and training responsiveness after 18 weeks of endurance training. Key findings: rs3763679 in PPP3CB was significantly associated with resting heart rate at baseline; rs1879793, rs1075534, rs7430, rs2461483, and rs10108011 in PPP3CC were associated with cardiac output/stroke volume response to exercise; rs1407877 in PPP3R2 was associated with ejection fraction response at 50W.

Traits studied:Cardiac outputCardiac phenotypesEjection fractionLeft ventricular massResting heart rateStroke volumeTraining responsiveness
Analysis of genetic variations in the RGS9 gene and antipsychotic‐induced tardive dyskinesia in schizophrenia
ReviewYing‐Jay Liou et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This is a comprehensive literature review of candidate genes and their single nucleotide variants associated with antipsychotic-induced tardive dyskinesia in schizophrenia patients. The review examined genes involved in dopamine system (DRD1, DRD2, DRD3), catecholamine metabolism (COMT), serotonin system (HTR2A, HTR2C), and other pharmacodynamic and pharmacokinetic pathways. Timely identification of genetic variants in these genes could contribute to developing diagnostic tests and selecting safer antipsychotic therapy.

Traits studied:Antipsychotic-induced movement disordersDrug-induced tardive dyskinesiaSchizophreniaTardive dyskinesia
Influence of NOS1 on Verbal Intelligence and Working Memory in Both Patients With Schizophrenia and Healthy Control Subjects
ReviewGary Donohoe et al.(2009)· Archives of General Psychiatry

This comprehensive review synthesizes genomic and pharmacogenomic research in schizophrenia, discussing over 200 candidate genes associated with psychotic disorders, genetic mechanisms including copy number variants and microRNA alterations, and pharmacogenomic factors affecting antipsychotic efficacy and safety. Key genes covered include dopamine receptors (DRD1-5), dysbindin (DTNBP1), DISC1, neurotrophic factors, and metabolic enzymes such as CYP2D6, CYP3A4, and COMT, with emphasis on genotype-phenotype correlations in antipsychotic response and side effects.

Traits studied:Antipsychotic drug response and efficacyAntipsychotic drug safety and side effectsAttention-deficit hyperactivity disorderAutismBipolar disorderCognitive function in schizophreniaMajor depressive disorderMental retardationObsessive-compulsive disorderParkinson's diseasePsychotic disordersSchizophreniaTardive dyskinesia
Lack of association of GPX1 and MnSOD genes with symptom severity and response to clozapine treatment in schizophrenia subjects
ReviewRenan P. Souza et al.(2009)· Human Psychopharmacology: Clinical and Experimental

A systematic review of 98 studies investigating biological predictors of clozapine response in treatment-resistant schizophrenia. Of 70 genetic studies examining 379 variants, only three genetic variants have independently replicated findings: DRD3 Ser9Gly (rs6280), HTR2A His452Tyr, and GNB3 C825T (rs5442/rs5443). Non-genetic predictors include higher prefrontal cortical structural integrity and activity, and lower HVA:5-HIAA ratio in cerebrospinal fluid.

Traits studied:Clozapine responseSchizophreniaTreatment-resistant schizophrenia
DRD3, but not COMT or DRD2, genotype affects executive functions in healthy and first‐episode psychosis adolescents
AssociationN=446Igor Bombin et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

A pharmacogenetic association study of 446 schizophrenia patients from West Siberia examined 41 SNPs in dopamine pathway genes (DRD1, DRD2, DRD3, DRD4, SLC6A3, MAOA, MAOB) for association with antipsychotic-induced hyperprolactinemia (HPRL). rs1799836 in MAOB showed significant protective association with HPRL in men (OR=0.748, p=0.048), while rs40184 (OR=0.341, p=0.021) and rs3863145 (OR=0.362, p=0.043) in SLC6A3 showed protective effects specifically in risperidone/paliperidone-treated patients.

Traits studied:Antipsychotic-induced hyperprolactinemiaHyperprolactinemiaSchizophrenia

About DRD2

This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]

View all DRD2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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