rs11604671
This is a protein-altering variant in the ANKK1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (4)
▶The ANKK1/DRD2 locus is a genomic substrate for affective priming and recognition of angry facesAssociationN=94Alejandra Koeneke et al.(2015)· Brain and Behavior
This genetic association study investigated whether ANKK1 Taq IA (rs18000497) and DRD2 C957T (rs6277) SNPs are associated with affective priming and facial expression recognition in 94 healthy Spanish volunteers. The C957T SNP TT genotype was significantly associated with stronger affective priming effects (F=10.653, P=0.002) and better recognition of angry facial expressions (F=11.980, P=0.001), while the Taq IA SNP showed no significant associations. The study suggests that affective priming and recognition of angry expressions are endophenotypes linking the ANKK1/DRD2 locus to emotional processing disorders.
▶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.
About ANKK1
The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]
View all ANKK1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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