rs2734849

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.

Association study of 446 Russian schizophrenia patients examining the functional ANKK1 rs2734849 polymorphism and antipsychotic-induced hyperprolactinemia (HPRL). The C allele was significantly associated with higher HPRL risk (OR=1.30, p=0.05 in total group; OR=1.49, p=0.04 in females), while the T allele was protective. This variant likely affects DRD2 expression through NFκB signaling, influencing D2 receptor density on pituitary lactotrophs.

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.

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.

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.