Shaghayegh Pishkari - Master of Molecular Genetics Student, Azad University, Tehran Medical Branch, Tehran, Iran.
Kioomars Saliminejad - Genetic Research Center, University of Social Welfare and Rehabilitation Science, Tehran, Iran.
Hamid Reza Khorram Khorshid - Avicenna Research Institute, Shahid Beheshti University, Evin, Tehran, Iran.

Introduction: Endometriosis is a complex disease that is caused by an interaction between multiple genes and the environment. Endometriosis has been suggested to be an autoimmune disease, and recently an allelic variation of the PTPN22 (C1858T) gene was revealed to be associated with the development of autoimmunity. We investigated variations of PTPN22 with susceptibility to endometriosis in Iranian population. Materials and methods: In this case-control study, 151 patients with endometriosis (stage I-IV) and 153 women with no evidence of the disease were included. Genotyping of the PTPN22 1858 C/T Insertion/Deletion variations were performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: The TC genotype of PTPN22 polymorphism was observed in 1.3% (2/153) of the control group and 2.6% (4/151) of the endometriosis patients; the difference wasn’t statistically significant (P = 0.446). Conclusion: The results of the present study show that, endometriosis in Iranian population is not associated with the PTPN22/LYP 1858C>T gene polymorphism. PTPN22 may not be a primary factor in the etiology of endometriosis, but it should be verified in further studies

Endometriosis, Polymorphism, Autoimmunity, PTPN22