rs2881766
This variant is located in the ESR1 gene.
▶Research that mentions this SNP (2)
▶Genetic variations in estrogen and progesterone pathway genes in preeclampsia patients and controls in BavariaAssociationN=282Jutta Pretscher et al.(2021)· Archives of Gynecology and Obstetrics
Case-control study of 167 preeclampsia patients and 115 healthy Bavarian controls examining associations between hormone pathway SNPs and preeclampsia risk. Found rs10895068 (G/A genotype) in the progesterone receptor gene significantly more frequent in preeclampsia cases (16% vs 6%, P=0.023). No significant associations observed for rs1042838, rs488133, rs10046, or rs4646.
▶Genetic polymorphism of ESR1 rs2881766 increases breast cancer risk in Korean womenAssociationN=1,220Byung Ho Son et al.(2015)· Journal of Cancer Research and Clinical Oncology
A case-control study of 830 Korean breast cancer patients and 390 controls evaluating associations between genetic polymorphisms in estrogen receptor genes (ESR1, ESR2) and estrogen-metabolizing enzyme genes (CYP1A1, CYP1B1, COMT) with breast cancer risk. ESR1 rs2881766 (OR=1.40, p=0.02), rs2077647 (OR=1.37, p=0.02), rs926778 (OR=1.56, p≤0.01), and rs2273206 (OR=1.40, p=0.01) increased breast cancer risk, while rs3798377 (OR=0.76, p=0.05) decreased risk in overall patients. Associations varied substantially by age group and tumor subtype, with rs2881766 consistently increasing risk across all age groups except luminal B subtype.
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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