An association study of dopaminergic (DRD2) and serotoninergic (5-HT2) gene polymorphism and schizophrenia in a North Indian population

• Published in: Asian journal of psychiatry 2019-01, Vol.39, p.178-184
• Main Authors: Kaur, Gurjit, Singh Chavan, Bir, Gupta, Deepti, Sinhmar, Vikas, Prasad, Rajendra, Tripathi, Adarsh, Garg, P.D., Gupta, Rajiv, Khurana, Hitesh, Gautam, Shiv, Margoob, Mushtaq Ahmed, Aneja, Jitender
• Format: Article
• Language: English
• Subjects: 5-HT2; Adolescent; Adult; Aged; DRD2; Female; Genetic association; Genetic Predisposition to Disease - genetics; Humans; India; Male; Middle Aged; Polymorphism, Genetic - genetics; Prospective Studies; Receptors, Dopamine D2 - genetics; Receptors, Serotonin, 5-HT2 - genetics; Schizophrenia; Schizophrenia - genetics; Young Adult
• ISSN: 1876-2018; 1876-2026
• DOI: 10.1016/j.ajp.2018.10.022

•Genetic association of various SNPs for DRD 2 (rs1800497, rs1079597, rs1800498 and rs 1801028) and 5HT2 A (rs6313, rs6313 and rs 6305) with schizophrenia in North Indian population are in largely in consonance with previous research.•The B2 allele of rs1079597 (Taq 1B) may increase the risk of schizophrenia in North Indian population.•The A2B1D2 haplotype of DRD2 genes (Taq 1 A, B and D) may be protective against schizophrenia in North Indian population.•The mutation of Ser311Cys (rs1801028) is not observed in North Indian population. The aim of this study was to investigate whether single nucleotide polymorphisms (SNPs) in DRD2 and 5-HT2 receptor genes are associated with schizophrenia in North Indian population. Four hundred forty-three patients who met ICD10-DCR criteria for schizophrenia were enrolled from six participating centers along with 443 genetically related healthy subjects and 150 genetically unrelated healthy participants. A total of 7 gene polymorphisms from DRD2 (rs1800497, rs1079597, rs1800498, rs1801028) and 5-HT2 A (rs6313, rs6311, rs6305) were genotyped for their association with schizophrenia. No significant difference was found in frequency of various genotypes and alleles of the studied markers for DRD2 and 5-HT2 A genes between the cases and their genetic controls. However, significant differences were noted for rs1079597 genotype (Taq1B; p = 0.039) and its allele frequencies (p = 0.029) in persons with schizophrenia and the unrelated healthy controls. The DRD2 (Taq1 A-B-D) and 5-HT2 A (rs6311-rs6313-rs6305) haplotype frequencies differed significantly for A2B1D2 [p = 0.038; OR = 0.685 (95%CI = 0.479–0.981)] and ACC [p = 0.001; OR = 0.621 (95%CI = 0.461-0.838)] for the cases vs genetically related healthy controls. Similarly, significant difference was observed for the frequencies of GCC [p = 0.006; OR = 0.692 (95%CI = 0.532–0.900)] and ACC [p