Abstract:
Uterine fibroids and endometriosis are common gynecological disorders that significantly
impact women's well-being as well as complex aetiologies. This study uses an in silico
examination of three important genes WNT-4, VEGF-A, and MMP-2 to investigate their
genetic foundation. By using sophisticated computational methods to find single nucleotide
polymorphisms (SNPs), we were able to distinguish harmful variations using SNP predictors
like SIFT, Polyphen2, and PROVEAN. Three significant SNPs in VEGF-A, twelve in MMP 2, and seven in WNT-4 were found by our research. The majority of these SNPs have a
deleterious effect on protein stability, according to structural and stability analyses.
SUMOylation, N-glycosylation, and phosphorylation alterations were further highlighted by
post-translational modification studies. Notably, the relationship between endometriosis and
fibroids and SNP rs121908651 in WNT-4 was studied. There was a significant correlation with
uterine fibroids (p = 0.0001) and with endometriosis (p = 0.0026). There is the need for more
studies using larger cohorts to validate these SNPs' involvement in disease susceptibility and
to pinpoint possible targets for treatment.
