rs851984
This is a regulatory region variant variant in the ESR1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶Research that mentions this SNP (3)
▶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.
▶Do the estrogen receptors 1 gene variants influence the temperament and character inventory scores in suicidal attempters and healthy subjects?AssociationN=9,000Ina Giegling et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This study identified rs2144025, an intronic SNP in ESR1 (estrogen receptor alpha), associated with brain ESR1 mRNA isoform expression and psychiatric behavioral traits. The variant showed large allelic expression imbalance (p=1.6E-6) in prefrontal cortex brain samples from bipolar disorder and schizophrenia subjects. In four large GWAS cohorts, rs2144025 was significantly associated with hypomanic episodes in bipolar females (p=0.0004, additive model), psychiatric comorbidity in ADHD (p=2.4E-5, dominant), psychological diagnoses in girls (p=0.0009), and grandiose delusions in schizophrenia (p=0.0004, dominant).
▶Association study of the estrogen receptor alpha gene (ESR1) and childhood‐onset mood disordersAssociationN=3,450Jonathan Mill et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This study identified rs2144025 (C>T) in ESR1 intron4 as a regulatory variant associated with brain ESR1 mRNA isoform expression imbalance in psychiatric patients. The intronic SNP showed strong association with allelic mRNA ratios (p=1.6e-6) and was significantly associated with behavioral traits including hypomanic episodes in female bipolar disorder patients (p=0.0004), comorbid psychological symptoms in ADHD (p=0.00002), psychological diagnoses in female children (p=0.0009), and grandiose delusions in schizophrenia (p=0.0004).
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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