rs488133
This is a intron variant variant in the ESR1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶Research that mentions this SNP (4)
▶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.
▶Association of variants in estrogen‐related pathway genes with prostate cancer riskAssociationN=2,570Sarah K. Holt et al.(2013)· The Prostate
Population-based case-control study of 1,304 prostate cancer cases and 1,266 controls examining 73 SNPs in five estrogen pathway genes (ESR1, ESR2, CYP19A1, CYP1A1, CYP1B1). Only CYP1B1 rs1056836 (Val158Met) retained significance after multiple comparisons adjustment (OR=1.22, 95% CI 1.02-1.46, p=0.004). ESR1, CYP1A1, and CYP1B1 variants showed nominal associations with prostate cancer risk, and ESR2/CYP19A1 variants associated with tumor aggressiveness, though these did not persist after correction.
▶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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