rs1799978
This is a upstream gene variant variant in the DRD2 gene.
Key Literature Trait Associations
Antipsychotic Response
DRD2 -241A>G (rs1799978) is a promoter variant that modulates dopamine D2 receptor transcription. In first-episode schizophrenia patients, G allele carriers (C on forward strand) showed significantly faster time to sustained response during risperidone and olanzapine treatment. Since antipsychotics exert therapeutic effects primarily through D2 receptor blockade, altered D2 expression directly affects drug pharmacodynamics.
▶ClinVar annotation
▶Research that mentions this SNP (4)
▶The relationship between polymorphisms of BDNFOS and BDNF genes and heroin addiction in the Han Chinese populationReviewTianbo 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.
▶Influence of ANKK1 and DRD2 polymorphisms in response to haloperidolAssociationN=88Ina Giegling et al.(2013)· European Archives of Psychiatry and Clinical Neuroscience
This study investigated whether 9 ANKK1 and 27 DRD2 SNPs predict haloperidol efficacy and tolerability in 88 acutely psychotic patients. rs2242592 in ANKK1 (p=0.008) and rs1124493 in DRD2 (p=0.001) were significantly associated with improved clinical response on PANSS scores. Three haplotype blocks (one in ANKK1, two in DRD2) were also associated with better clinical improvement. Results showed partial replication in the CATIE schizophrenia sample, with rs11604671 (in LD with rs2242592) associated with response, suggesting ANKK1 and DRD2 variability influences haloperidol response though further validation is needed.
▶Influence of neurexin 1 (NRXN1) polymorphisms in clozapine responseReviewRenan 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.
▶Lack of association of GPX1 and MnSOD genes with symptom severity and response to clozapine treatment in schizophrenia subjectsReviewRenan 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.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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