rs1514348

This is a intron variant variant in the ESR1 gene.

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Research that mentions this SNP (2)

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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
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Comprehensive evaluation of the estrogen receptor α gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American population
AssociationN=1,173Keith L. Keene et al.(2008)· Human Genetics

A comprehensive candidate gene study evaluating 150 SNPs across 476 kb of the ESR1 gene (estrogen receptor alpha) in 577 African American cases with type 2 diabetes and end-stage renal disease (T2DM-ESRD) versus 596 controls. After multiple testing correction, three SNPs remained significant: rs11964281 (promoter, adjusted P=0.0289), rs1569788 (intron 4, adjusted P=0.0278), and rs9340969 (intron 4, adjusted P=0.0467). A novel region in intron 4-intron 6 showed clustering of 23 associated SNPs, suggesting this region may contain functionally relevant polymorphisms for T2DM/diabetic nephropathy susceptibility.

Traits studied:Diabetic nephropathyEnd-stage renal diseaseType 2 diabetes mellitus
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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