Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 17624340
Gene Name PTPN22
Condition Endometriosis
Association Associated
Mutation PTPN22( *)T variant
Sex Female
Infertility type Female infertility
Associated genes PTPN22
Other associated phenotypes Endometriosis
Association between PTPN22 and endometriosis.

Fertil Steril. 2008 Apr;89(4):993-4. Epub 2007 Jul 10.

Ammendola, Maria| Bottini, Nunzio| Pietropolli, Adalgisa| Saccucci, Patrizia| Gloria-Bottini, Fulvia

Division of Gynecology and Obstetrics, Department of Surgery, Hospital University of Rome Tor Vergata, School of Medicine, Rome, Italy.

PTPN22 is currently one of the few known shared-autoimmunity genes and is therefore a candidate marker for endometriosis. Our data show that female carriers of the PTPN22( *)T variant are significantly more susceptible to endometriosis than controls.

Mesh Terms: Adult| Case-Control Studies| Endometriosis/enzymology/*genetics| Female| Gene Frequency| Genetic Predisposition to Disease| Humans| Italy| Male| *Polymorphism, Genetic| Protein Tyrosine Phosphatase, Non-Receptor Type 22/*genetics| Risk Factors|