Oxytocin receptor gene single nucleotide polymorphisms in patients with bipolar disorder

Int J Psychiatry Clin Pract. 2025 Mar;29(1):18-24. doi: 10.1080/13651501.2025.2472693. Epub 2025 Mar 6.

Abstract

Introduction: Many studies have reported that psychiatric disorders may be associated with oxytocin receptor (OXTR) gene polymorphisms. The aim of this study was to investigate whether there is a relationship between OXTR gene polymorphisms and bipolar disorder (BPD).

Methods: The study included 100 patients diagnosed with BPD type 1 (BPD I) and 96 healthy controls. Single nucleotide polymorphisms (SNPs) of the OXTR gene, including rs53576, rs2254298 and rs2268494, were examined via polymerase chain reaction in blood samples taken from the study participants. Based on the BPD determinants, the patients were divided into 4 subgroups, as those with psychotic features, seasonal patterns, rapid cycling and peripartum onset.

Results: The frequency of the rs2268494 A allele was lower in the patients than in the healthy controls (p = .048), that frequency of psychotic mania was higher in patients with the rs53576 GG genotype compared to the A allele carriers (p = .003), and that of the seasonal pattern was higher in those carrying the rs2268494 A allele compared to those carrying the rs2268494 TT genotype (p < .001).

Conclusion: OXTR gene polymorphisms may be associated with several clinical determinants of BPD. Multicentre studies involving more subjects are required to verify these findings.

Keywords: Bipolar disorder; oxytocin; oxytocin receptor; psychotic mania; seasonal pattern; single nucleotide polymorphisms.

Plain language summary

The frequency of rs2268494 A allele was less common in patients than healthy individuals.The frequency of psychotic mania was higher in patients with rs53576 GG genotype compared to A allele carriers.The seasonal pattern was more common in those carrying rs2268494 A allele compared to those carrying rs2268494 TT genotype.

MeSH terms

  • Adult
  • Bipolar Disorder* / genetics
  • Bipolar Disorder* / physiopathology
  • Case-Control Studies
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Receptors, Oxytocin* / genetics
  • Young Adult

Substances

  • Receptors, Oxytocin
  • OXTR protein, human