rs827421

This is a intron variant variant in the ESR1 gene.

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Research that mentions this SNP (1)

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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
PubMedDOIMetascience Observatory

About ESR1

This gene encodes an estrogen receptor and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, a hinge domain, and a C-terminal ligand-dependent transactivation domain. The protein localizes to the nucleus where it may form either a homodimer or a heterodimer with estrogen receptor 2. The protein encoded by this gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues. The receptor encoded by this gene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing, however, the full-length nature of many of these variants remain uncertain. [provided by RefSeq, Jul 2020]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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