Introduction: Endometriosis is a gynecological disease characterized by the presence of endometrial cells outside the uterine cavity. Apoptosis plays an important role in the pathophysiology of endometriosis. Fas is a cell surface receptor that is expressed in endometrium and plays a crucial in the apoptosis. This study investigated the association between Fas rs1800682 gene polymorphism and susceptibility to endometriosis.

Material &methods: This case-control study was done on 100 endometriosis patients and 100 normal women. Genomic DNA was extracted from blood samples. The polymorphism was determined by using Tetra-ARMS PCR technique. The association between Fas rs1800628 polymorphism and the endometriosis risk was examined by using odds ratios (OR) and 95% of confidence intervals (CIs).

Findings: The frequency of the GG genotype in patients and controls was 22% and 10%, respectively. There was significant difference in the distribution of GG genotype between endometriosis patients and controls(OR=3.3, 95%CI= 1.4-7.9, P=0.007). Also, statistically significant association was observed between G allele and the risk of endometriosis development (OR= 1.8, 95%CI= 1.2-2.7, P= 0.004).

Discussion & Conclusion: This is the first study in regard to the association of Fas rs1800628 polymorophism with endometriosis risk in Iranian population. The results of this study showed that there were significant differences in the genotype distribution and allelic frequency between case and control groups. These finding suggest that the Fas rs1800628 gene polymorphism may contribute to endometriosis susceptibility in Iranian population.