Oxytocin receptor gene polymorphisms exert a modulating effect on the onset age in patients with obsessive-compulsive disorder

The oxytocin receptor (OXTR) is a potential candidate in the pathophysiology of obsessive-compulsive disorder (OCD). The present study investigated the association between common single-nucleotide polymorphism (SNPs) of the OXTR gene and the affected status of OCD or distinct clinical subtypes of OCD including the age at onset and symptom dimensions. Ten SNPs of OXTR were examined in 615 patients with OCD and 581 healthy controls. Single-marker and haplotype-based association analyses were conducted. While OXTR variants were not associated with the affected status of OCD or its clinical symptom dimensions, rs2268493 (p = 0.00185) and rs13316193 (p = 0.00461) of the OXTR gene were associated with the age at onset in patients with OCD. In addition, in haplotype-based association analyses, there was a significant association between the OXTR gene and the onset age in patients with OCD. In particular, the G-C-G haplotype of rs2268493-rs2254298-rs11316193 and the T-G-A haplotype of rs237887-rs2268490-rs4686301 were positively associated with late-onset OCD. Our results suggest that common variants of OXTR may exert a modulating effect on the onset age in OCD pathophysiology. The potential involvement of the oxytocin system in the development and expression of OCD warrants further longitudinal research.