Molecular Investigation of Genetic Polymorphisms of FSHR, WNT4, and ESR2 genes underlying risk of Endometriosis in Pakistani Patients

Abstract

Endometriosis is a complex and painful disorder in which endometrial tissue of the uterus grows in ectopic locations in the form of endometriotic lesions. It affects upto 10% females of reproductive age around the world, affecting their quality of life and causing infertility in many cases. No curative treatment exists, and management involves suppressing the symptoms with painkillers, contraceptives, or surgery. Bypassing invasive diagnostic procedures might be possible by the discovery of genetic biomarkers that are associated with incidence of endometriosis. In the present study, three single nucleotide polymorphisms (SNPs) (rs6166 of FSHR, rs7521902 near WNT4, and rs4986938 of ESR2) were selected to investigate their association with endometriosis in Pakistani patients. The study involved thirty-eight subjects and amplification refractory mutation system – polymerase chain reaction (ARMS-PCR) was used; however, no significant association was found. In-silico analysis of FSHR and ESR2 was also performed by utilizing information from online data sets and webtools. Missense SNPs of FSHR and 3’ and 5’ UTR variants of ESR2 were analyzed in-silico to filter other potentially pathogenic polymorphisms: rs386833515, rs121909661, rs371482817, and rs1256120. Further in vitro experimentation is required to validate the obtained results in the future. Candidate SNPs associated with endometriosis may be proposed as biomarkers and molecular drug targets to improve diagnosis and treatment in the future.