Study of Oxytocin Receptor Gene Polymorphisms (rs53576, rs2254298) in Patients Suffering from Clinical Depression

Abstract

Depression is a chronic stress related disorder. Lifetime prevalence of depression in Pakistan is quite high as compared to other developing countries. Environmental factors and genetic predisposition enhance the risk of depression. One of the genes linked to depression is human oxytocin receptor gene (OXTR). The current study focused on two OXTR polymorphisms rs53576 and rs2254298. Blood of clinically depressed patients from Pakistan were collected and analyzed through Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP). The result showed no significant association of genotype distribution of one SNP, rs2254298, with clinical depression with p value 0.94 but AA genotype of second SNP, rs53576 (p= 0.04), suggests association with the risk of depression but allelic frequency resulted in no statistically significant association with depression (p= 0.7 and 0.4 respectively). Insilico analysis suggests an alteration in transcription factor binding pattern in these two OXTR SNPs. However, these results were obtained from a small sample size (82 patients vs 91 controls). Replication of these findings in larger population size from different ethnic groups is required to confirm these results. This is the first report about OXTR gene polymorphisms and clinical depression from Pakistan.