rs2254298

This case-control study examined three oxytocin receptor (OXTR) gene polymorphisms (rs53576, rs13316193, rs2268493) in 99 Turkish children with ADHD and 99 controls. While no significant differences in genotype distribution were found for rs2268493 (P=0.078), rs53576 (P=0.330), or rs13316193 (P=0.149), the T allele frequency of rs2268493 was significantly higher in controls than ADHD cases (P=0.024). ADHD children showed significantly higher social reciprocity scale (SRS) scores indicating greater social impairment (Z=-21.135, P<0.001). No significant association was found between rs2268493 genotype and SRS scores within the ADHD group.

This imaging genetics study of 290 healthy Chinese Han adults examined how OXTR rs53576 (A/G polymorphism) influences anxiety-related harm avoidance personality through brain structure and function. Female AA homozygotes showed significantly higher harm avoidance scores (17.3±6.6 vs 15.1±6.0, P=0.03), smaller bilateral amygdala volumes (P<0.001 left, P=0.002 right), and reduced prefrontal-amygdala resting-state functional connectivity (P<0.001) compared to G-allele carriers; left amygdala-DLPFC coupling weakly correlated with harm avoidance (r=0.224, P=0.005). These findings suggest OXTR genotype modulates anxiety-related temperament via prefrontal-amygdala circuitry in females.

A pharmacological imaging genetics study examining the interaction between intranasal oxytocin administration and OXTR gene variants on amygdala reactivity to direct gaze in 55 healthy males. The rs401015 CT heterozygous carriers showed significantly increased amygdala activation to direct gaze under oxytocin compared to TT homozygotes, while rs2268498 and rs180789 showed no significant interaction effects with oxytocin on gaze processing.

This comprehensive review examines cross-generational transmission of anxiety disorders, identifying multiple interconnected pathways including behavioral systems (vicarious learning, parenting style) and biological mechanisms such as prenatal maternal stress and the oxytocinergic system. The oxytocin system (OXTR, rs2254298) emerges as a key biological mechanism linking parent and child anxiety through effects on maternal caregiving sensitivity and anxiety regulation. Gene-by-environment interactions involving genes like OXTR, SLC6A4 (5-HTTLPR), and BDNF interact with early environmental stressors and parenting quality to predict anxiety vulnerability. Epigenetic alterations in OXTR, MAOA, and GAD1 provide evidence for environmental programming of anxiety risk that can persist across generations.

A comprehensive review of the genetic basis of aggressive behavior, covering candidate genes in neurotransmitter systems (TPH1, TPH2, SLC6A4, DRD4, COMT, MAOA), hypothalamic-pituitary genes (OXT, OXTR, AVPR1A, AVPR1B), and GWAS findings (LRRTM4 rs11126630 p=5.30×10⁻⁸, CDH13 rs11649622 p=4.19×10⁻⁶, FYN rs2148710 p=2.9×10⁻⁸, DYRK1A). The review concludes that genetic predisposition to aggressive behavior involves multiple genes with small individual effects (1-2% each).

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.