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.
