rs2280543

This is a coding sequence variant variant in the BET1L gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

brain aneurysm

Bakker MK et al. “Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors.” Nature Genetics 52(12):1303-1313 (2020)

Allele T

OR 0.24

p 1.0e-14

N 317,636

Large GWAS

multi-ancestry

uterine fibroid

Cha PC et al. “A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids.” Nature Genetics 43(5):447-50 (2011)

Allele G

OR 1.39

p 4.0e-12

N 3,035

Large GWAS

East Asian

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Research that mentions this SNP (2)

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BET1L and TNRC6B associate with uterine fibroid risk among European Americans

AssociationN=2,635Todd L. Edwards et al.(2013)· Human Genetics

This association study tested SNPs from a prior Japanese GWAS for association with uterine fibroids in 1,086 European American cases and 1,549 controls from two U.S. cohorts (RFTS and BioVU). Two SNP associations replicated: BET1L rs2280543 (meta-OR=0.67, 95% CI 0.38-0.96, p=6.9×10⁻³) and TNRC6B rs12484776 (meta-OR=1.21, 95% CI 1.07-1.35, p=8.7×10⁻³). When combined with the prior Japanese GWAS, BET1L rs2280543 showed genome-wide significance (meta-OR=0.66, p=3.89×10⁻⁹), suggesting common variants increase uterine fibroid risk in both European American and Japanese populations.

Traits studied:Uterine fibroids

PubMed DOI Metascience Observatory

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Variants in BET1L and TNRC6B associate with increasing fibroid volume and fibroid type among European Americans

AssociationN=2,005Todd L. Edwards et al.(2013)· Human Genetics

This study examined three previously GWAS-identified SNPs (rs7913069, rs2280543, rs12484776) for association with uterine fibroid characteristics in 456 European American cases and 1,549 controls. TNRC6B rs12484776 associated with increased fibroid volume (Beta=0.40, p=0.024) and the largest volume category (OR=2.19, p=0.031). Meta-analysis showed BET1L rs2280543 strongly associated with intramural fibroids (metaOR=0.51, p=2.48×10^-6), suggesting genetic risk varies by fibroid sub-phenotypes.

Traits studied:Fibroid typeFibroid volumeIntramural fibroidsSubmucous fibroidsSubserous fibroidsUterine fibroids

PubMed DOI Metascience Observatory

About BET1L

Enables SNAP receptor activity. Involved in regulation of retrograde vesicle-mediated transport, Golgi to ER and retrograde transport, endosome to Golgi. Located in Golgi apparatus and endosome. Implicated in uterine fibroid. Biomarker of endometrial adenocarcinoma. [provided by Alliance of Genome Resources, Jul 2025]