Related Experiment Video
Updated: Jul 13, 2026

An In Vivo Estrogen Deficiency Mouse Model for Screening Exogenous Estrogen Treatments of Cardiovascular Dysfunction After Menopause
Published on: August 13, 2019
Estrogen receptor alpha gene polymorphisms are associated with idiopathic premature ovarian failure
Karla L Bretherick1, Courtney W Hanna, Lauren M Currie
1Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Objective:
To assess the role of hormone receptor/binding protein variants in genetic predisposition to premature ovarian failure (POF).
Design:
Case-control study.
Setting:
Academic.
Patient(S):
Fifty-five POF patients, 107 control women from the general population, and 27 control women who had proven fertility after age 37.
Intervention(S):
None.
Main Outcome Measure(S):
Allele distributions in cases and controls were assessed for genetic association.
Result(S):
Allele distributions of polymorphisms at the androgen receptor (AR) gene, estrogen receptor beta (ESR2) gene, sex hormone-binding globulin (SHBG) gene, and FSH receptor (FSHR) gene did not differ between patients and controls. At a repeat in a promoter of the estrogen receptor alpha(ESR1) gene, POF patients had fewer (<18) short repeat alleles than did controls (P=.004 vs. combined controls). Genotypes consisting of two short alleles were found in 36.4% of control women but only 5.5% of POF patients (P<.0001 vs. combined controls). The ESR1 repeat may confer risk for POF in a simple dominant manner in which carriers of a long repeat have a relative risk of 9.7 (95% CI = 2.6 - 35.6).
Conclusion(S):
Polymorphisms at the ESR1 gene are associated with POF in this patient population, while those in AR, ESR2, SHBG, and FSHR showed no association. Further studies are necessary to confirm these findings in larger patient samples and to identify the specific predisposing lesion.
Related Concept Videos
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Oogenesis
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
Pharmacogenetics of Drug Metabolism: Overview
