Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 21243274
Gene Name PGR
Condition Endometriosis
Association Associated
Population size 377
Population details 377 (148 patients with endometriosis-associated infertility, 50 idiopathic infertile patients and 179 fertile women as controls)
Sex Female
Infertility type Female infertility
Other associated phenotypes Endometriosis-associated infertility, Idiopathic infertility
The progins progesterone receptor gene polymorphism is not related to endometriosis-associated infertility or to idiopathic infertility.

Clinics (Sao Paulo). 2010;65(11):1073-6.

Gimenes, Cristiane| Bianco, Bianca| Mafra, Fernanda Abani| Rosset, Victor| Christofolini, Denise Maria| Barbosa, Caio Parente

Gynecology and Obstetrics Department, Faculdade de Medicina do ABC, Santo Andre, Sao Paulo, Brazil.

OBJECTIVE: This study aimed to determine the frequency of the PROGINS polymorphism in women with endometriosis-associated infertility, in infertile women without endometriosis and in controls. INTRODUCTION: The human progesterone receptor gene has two isoforms that modulate the biological action of progesterone: isoform A, which is capable of inhibiting the activation of the estrogen receptors, and isoform B, which has the capacity to activate the estrogen receptors. Several polymorphisms have been described for this gene, among which one stands out: a polymorphism named PROGINS, which has been speculated to be related to the genesis of endometriosis by several studies with conflicting results. METHODS: This was a prospective study that included 148 patients with endometriosis-associated infertility, 50 idiopathic infertile patients and 179 fertile women as controls. The PROGINS polymorphism was studied by PCR. RESULTS: Genotypes P1P1, P1P2 and P2P2 (P2 representing the PROGINS polymorphism) of the progesterone receptor gene presented frequencies of 93.9%, 5.4% and 0.7%, respectively, in the women with endometriosis-associated infertility (p=0.2101, OR=0.51, 95% CI=0.24-1.09); 94.4%, 4.2% and 1.4%, respectively, in the patients with minimal/mild endometriosis (p=0.2725, OR=0.53, 95% CI=0.20-1.43); 93.5%, 6.5% and 0%, respectively, among the patients with moderate/severe endometriosis (p=0.3679, OR=0.49, 95% CI=0.18-1.31); 86.0%, 14.0% and 0%, respectively, in idiopathic infertile women (p=0.8146, OR=1.10, 95% CI=0.46-2.63); and 88.3%, 10.6% and 1.1%, respectively, in the control group. CONCLUSION: The data suggest that PROGINS is not related either to endometriosis-associated infertility or to idiopathic infertility in the population studied.

Mesh Terms: Adult| Case-Control Studies| Endometriosis/complications/*genetics| Female| Gene Frequency/genetics| Genetic Predisposition to Disease| Genotype| Humans| Infertility, Female/*genetics| Polymerase Chain Reaction| Polymorphism, Genetic/*genetics|