rs53576

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 study examined how intranasal oxytocin administration affects healthy adults' responses to infant faces, and whether this response is moderated by OXTR rs53576 genotype. Fifty-seven participants received either oxytocin or placebo and rated the appeal of infant and adult faces. Infants' faces were significantly more preferred following oxytocin inhalation (p < 0.05), while adult faces were rated less appealing (p < 0.001). Notably, the effect on infant face preference was significant only in rs53576G homozygotes (p < 0.001), with rs53576A carriers showing decreased preference for infant faces following oxytocin (p < 0.05). These findings suggest that the G allele of OXTR rs53576 is associated with more efficient oxytocinergic function in promoting parental behaviors.

Case-control association study examining six SNPs in the SLC1A1 (glutamate transporter) gene in 615 Korean OCD patients and 508 healthy controls. While no significant associations were found between individual SNPs or haplotypes and OCD status (all p > 0.05), the C-T-G haplotype at rs301430-rs301434-rs3087879 was significantly associated with higher personal distress scores (p = 0.0419). Results suggest SLC1A1 variants may not contribute to OCD development but may influence trait empathy dimensions.

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.

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.