rs4686302

This literature review synthesizes findings on oxytocin (OXT) and vasopressin (AVP) receptor gene polymorphisms and their associations with social behaviors and psychiatric traits including autism, depression, schizophrenia, and stress responses. Key polymorphisms include rs53576 and rs2254298 in OXTR, with varying effects on empathy, prosocial behavior, and psychiatric symptomatology depending on genetic background and environmental factors.

A candidate gene association study of 99 healthy Caucasian subjects examining OXTR (oxytocin receptor) variants rs237900 and rs237902 and their effects on personality traits. The study found sexually dimorphic effects on Harm Avoidance, with female carriers of the minor (T) alleles scoring significantly higher (rs237900: p=0.006, rs237902: p=0.01). When sex was controlled for and a sex*genotype interaction term was included in the regression model, the variants explained 11% of the variance in Harm Avoidance (p≤0.01). A novel A217T missense mutation was identified in a highly harm-avoidant male participant.