rs726281

This variant is located in the ESR1 gene.

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GWAS Catalog Trait Associations (2)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele A

OR 0.03

p 3.0e-16

N 293,593

Large GWAS

African unspecified

age at first sexual intercourse measurement

Day FR et al. “Physical and neurobehavioral determinants of reproductive onset and success.” Nature Genetics 48(6):617-623 (2016)

Allele A

OR 0.03

p 3.0e-11

N 125,667

Large GWAS

European

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Research that mentions this SNP (1)

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Association study of the estrogen receptor I gene (ESR1) in anorexia nervosa and eating disorders: No replication found

AssociationN=3,330Slof-Op 't Landt MC et al.(2014)· International Journal of Eating Disorders

This replication study tested associations between eight ESR1 SNPs and eating disorders in 520 patients with eating disorders (including 244 with anorexia nervosa) and 2,810 control women. Despite adequate statistical power, the study failed to replicate previously reported associations between an ESR1 haplotype (rs726281, rs3020407, rs17081994, rs2982712, rs3020371, rs2228480, rs3798577, rs2295193) and anorexia nervosa or eating disorders (OR previously reported as 3.1 for the haplotype), finding no significant differences in haplotype or SNP frequencies between cases and controls.

Traits studied:Anorexia nervosaBulimia nervosaEating disordersRestricting type anorexia nervosa

PubMed DOI Metascience 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]