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
