Related Experiment Video
Updated: Jun 10, 2026

Establishment of an Experimental Mouse Model of Endometrioma to Study its Related Infertility
Published on: April 5, 2024
Progesterone receptor gene polymorphisms and risk of endometriosis: results from an international collaborative
Aimee M Near1, Anna H Wu, Claire Templeman
1Cancer Control Program, Lombardi Comprehensive Cancer Center, Georgetown University Medical Center, Washington, DC, USA.
Objective:
To investigate the association between self-reported endometriosis and the putative functional promoter +331C/T single nucleotide polymorphism and the PROGINS allele.
Design:
Control subjects from ovarian cancer case-control studies participating in the international Ovarian Cancer Association Consortium. The majority of controls are drawn from population-based studies.
Setting:
An international ovarian cancer consortium including studies from Australia, Europe, and the United States.
Patient(S):
Five thousand eight hundred twelve white female controls, of whom 348 had endometriosis, from eight ovarian cancer case-control studies.
Intervention(S):
None.
Main Outcome Measure(S):
Genotypes for the +331C/T single nucleotide polymorphism and PROGINS allele and a history of endometriosis.
Result(S):
The occurrence of endometriosis was reduced in women carrying one or more copies of the +331 T allele (odds ratio=0.65; 95% confidence interval: 0.43-0.98), whereas there was no association between the PROGINS allele and endometriosis (odds ratio=0.94, 95% confidence interval 0.76-1.16).
Conclusion(S):
Additional studies of the +331C/T variant are warranted given the current finding and the equivocal results of previous studies. The +331 T allele has been shown to result in a reduced progesterone (P) receptor A to P receptor B ratio, and if the observed association with endometriosis is confirmed it would suggest that this ratio is important for this disease.
Related Concept Videos
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenomics: Identification of New Drug Targets
Pharmacogenetics of Drug Metabolism: Overview
Oogenesis
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters