Androgen Receptor Gene Polymorphism and Polycystic Ovarian Syndrome: A Detailed In-Silico Study

Abstract

Background: Polycystic ovary syndrome (PCOS) is characterized by adulatory dysfunction and hyper androgenism. Its etiopathology is not well understood but genetic factors seem to have a role. Polymorphism of the androgen receptor (AR) gene has been associated with different androgen pattern diseases.

Objective: To analyze functional and structural consequences of the nsSNPs of AR gene polymorphisms associated with PCOS.

Methodology: We have utilized numerous computational tools like SIFT, POLYPHEN, PROVEAN, I-MUTANT, PANTHER, PHD-SNP, SNP&GO, PMUT, and HOPE for the exploration the AR gene polymorphisms associated with PCOS.

Results: We filtered the most pathological mutations by combining the scores of the aforementioned servers and found five SNPs (R775C, H875Y, Y764C, L708R, C580F) as deleterious and disease causing. The findings implicate that this nsSNPs would possible association with the protein deteriorating and disease causal potentialities.