Association Between Single Nucleotide Polymorphism rs113488022 of BRAF and Endometriosis in Iranian Population

Abstract

Endometriosis is a benign gynecologic disorder that has malignant-like characteristics such as invasion, and it can cause malignancy and cancer in advanced stages. Genetic, epigenetic and environmental factors play significant roles in the establishment and maintenance of endometriosis. Studies have demonstrated that proto-oncogenes may be an important regulator of cell proliferation in endometriotic tissue. B-Raf is a proto-oncogene, which participates in the MAP kinase/ERK signaling pathway and plays an important role in different types of cancers and disorders. The aim of the present study was to evaluate the association of BRAF gene single nucleotide polymorphism (SNP), rs113488022, with the risk of endometriosis in Iranian women, in order to identify a potential biomarker for the early non-invasive detection of endometriosis and endometriosis-related cancers. In a population based case-control study conducted in Tehran, in-person interviews were completed for 65 women aged 15– 49 years and an equal number of controls frequency-matched to cases by age. All cases were newly diagnosed with endometriosis and all controls were with no laparoscopic evidence of disease. The genomic DNA was extracted from peripheral blood leucocytes and subsequently the rs113488022 SNP of the BRAF gene was genotyped using amplification refractory mutation system- polymerase chain reaction (ARMS-PCR). Statistical analysis was performed using SPSS. In comparison of case and control groups, no significant differences were found in genotype and allele frequencies. Moreover, the results showed that there was no significant association between the presence of risk allele (A) and increased risk of endometriosis (Odds ratio=0.781, 95% CI: 0.480 -1.272, P=0.321). In conclusion, there was no evidence of an association between the rs113488022 SNP of the BRAF gene, and overall risk of endometriosis in Iranian population. Larger studies with different ethnics are needed to validate our findings.