Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 11821088
Gene Name PGR
Condition Endometriosis
Association Associated
Mutation 306-base pair insertion polymorphism in intron G of PROGINS
Population size 202
Population details 202 (107 white women without endometriosis, 95 women with surgically diagnosed and histologically confirmed endometriosis)
Sex Female
Associated genes PROGINS
Other associated phenotypes Endometriosis
PROGINS receptor gene polymorphism is associated with endometriosis.

Fertil Steril. 2002 Feb;77(2):309-12.

Wieser, Fritz| Schneeberger, Christian| Tong, Dan| Tempfer, Clemens| Huber, Johannes C| Wenzl, Rene

Department of Obstetrics and Gynecology, Division of Gynecological Endocrinology and Reproductive Medicine, University of Vienna, Waeringer Guertel 18-20, A-1090 Vienna, Austria.

OBJECTIVE: To investigate the association between the 306-base pair insertion polymorphism in intron G of the progesterone receptor (PROGINS) and endometriosis. DESIGN: Case-control study. SETTING: Tertiary care center. PATIENT(S): Ninety-five white women with surgically diagnosed and histologically confirmed endometriosis and 107 white women without endometriosis (controls). INTERVENTION(S): Determination of PROGINS was performed by polymerase chain reaction and gel electrophoresis. MAIN OUTCOIME MEASURE(S): Frequency and distribution of the PROGINS allele. RESULT(S): Frequencies of the mutant allele T2 was 0.17 among women with endometriosis and 0.08 among controls (odds ratio, 2.41 [CI, 1.31-4.53]). Homozygosity for allele T2 was present in 3.2% of women with endometriosis and 0.9% of controls. CONCLUSION(S): PROGINS appears to be associated with endometriosis in white persons.

Mesh Terms: Adult| Case-Control Studies| DNA/chemistry/*genetics/isolation & purification| Electrophoresis, Agar Gel| Endometriosis/*genetics| Female| Humans| Middle Aged| Polymerase Chain Reaction| Polymorphism, Genetic/genetics| Receptors, Progesterone/*g