Molecular Screening of PGR, IL10 and VEZT Gene Polymorphisms in Patients with Endometriosis

Abstract

Endometriosis is a chronic, inflammatory, hormone dependent gynecological disease characterized by the growth and proliferation of endometrium outside of the uterus in different parts of the body. Endometriosis mainly affects the women of reproductive age, and its prevalence is approximately 10% worldwide and 6% in Pakistan. Complex etiology, painful clinical manifestations, invasive and limited diagnostic, and treatment options makes endometriosis a disease of great concern. Endometriosis has a strong genetic basis and studies have elucidated the association of SNPs of different genes with its progression, which can then be used as diagnostic and prognostic markers. The current study aims to investigate the association of rs1042838 (a missense SNP of PGR), rs1800871 (a UTR-5 SNP of IL10) and rs10859871 (located 17kb upstream of VEZT) with the risk of endometriosis using ARMS PCR. Moreover, in-silico analysis was performed to identify pathogenic missense SNPs of PGR and 3’ and 5’ UTR SNPs of IL10 gene. The results of our study revealed no significant difference between the genotype and allele frequency of patients and healthy controls. So, it can be concluded that the risk alleles of all three SNPs were not associated with susceptibility to endometriosis in our sample pool, but replication of this study with larger sample size is required for further validation of results. In-silico studies predicted that six missense SNPs of PGR and three regulatory SNPs of IL10 have disease causing potential which can be tested in-vitro for their role in endometriosis and other diseases