rs2347867

This is a intron variant variant in the ESR1 gene.

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GWAS Catalog Trait Associations (1)

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

age at first birth measurement

Barban N et al. “Genome-wide analysis identifies 12 loci influencing human reproductive behavior.” Nature Genetics 48(12):1462-1472 (2016)
Allele A
OR —
β 0.091
p 1.0e-10
N 238,064
Large GWAS
European
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Research that mentions this SNP (2)

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Common genetic influences underlie comorbidity of migraine and endometriosis
AssociationN=2,203Dale R. Nyholt et al.(2009)· Genetic Epidemiology

This study examined genetic comorbidity between migraine and endometriosis in 931 women from endometriosis families and 1,272 twin pairs. Women with endometriosis showed significantly increased migraine risk (OR=1.57, 95% CI: 1.12-2.21, P=0.009). Bivariate heritability analyses revealed a significant additive genetic correlation (rG=0.27, 95% CI: 0.06-0.47) between the two traits, indicating common genetic influences explain their co-occurrence. Heritability estimates were 69% for migraine and 49% for endometriosis. The study discusses ESR1 gene variants (rs2228480, rs1801132, and others) previously associated with migraine as candidate genes for both traits.

Traits studied:EndometriosisMigraine
PubMedDOIMetascience Observatory
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Common germline polymorphisms in COMT, CYP19A1, ESR1, PGR, SULT1E1 and STS and survival after a diagnosis of breast cancer
AssociationN=4,470Miriam S. Udler et al.(2009)· International Journal of Cancer

This population-based study of 4,470 breast cancer cases from the SEARCH cohort examined associations between germline polymorphisms in 6 steroid hormone metabolism genes (COMT, CYP19A1, ESR1, PGR, SULT1E1, STS) and survival after breast cancer diagnosis. A COMT polymorphism (rs4818) showed significant association with survival in a dominant model (HR=0.80, 95% CI: 0.69-0.95, p=0.009), though this was only marginally significant after permutation adjustment (p=0.047). No significant associations were found in the other genes studied.

Traits studied:All-cause mortalityBreast cancer prognosisBreast cancer recurrenceBreast cancer survivalBreast cancer-specific mortality
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]

View all ESR1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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