rs4564970

This is a regulatory region variant variant in the OXTR gene.

Research that mentions this SNP (2)

NOS‐I and ‐III gene variants are differentially associated with facets of suicidal behavior and aggression‐related traits
ReviewDan Rujescu et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

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).

Traits studied:Aggressive behaviorAngerAntisocial behaviorCriminal behaviorHostilitySelf-harmSuicidal behaviorViolence
HTR2C and HTR1A gene variants in German and Italian suicide attempters and completers
Meta-analysisN=32,750Alessandro Serretti et al.(2007)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This dissertation investigated the genetic basis of violent criminal behavior, antisocial personality disorder (ASPD), and broader antisocial behavior through GWAS and meta-analyses in Finnish and international populations. Study I identified an intronic CDH13 variant (rs11649622, OR=2.7, p=4.19×10⁻⁶) associated with extremely violent offending, replicated in homicide offenders (p=5.3×10⁻⁷, OR=2.17). Study II revealed the first genome-wide significant association between LINC00951 variant rs4714329 (OR=1.59, p=1.6×10⁻⁹) and ASPD. Study III meta-analysis of 16,400 individuals found no genome-wide significant associations with broader antisocial behavior, though polygenic risk scores explained ~5% of phenotypic variance.

Traits studied:AggressionAlcohol use disorderAntisocial behaviorAntisocial personality disorder (ASPD)Conduct disorderDelinquencyExtremely violent offendingHomicide/murderImpulsivityRule-breaking behaviorViolent criminal behavior

About OXTR

The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. The oxytocin-oxytocin receptor system plays an important role in the uterus during parturition. [provided by RefSeq, Jul 2008]

View all OXTR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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