2020

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In silico analysis of functional nonsynonymous SNP in human INSR gene associated with polycystic ovarian syndrome
(UMT Lahore, 2020) KHIZRA BANO
Polycystic ovarian syndrome (PCOS) is a very complicated condition having many risk factors behind it, which in turn lead to other diseases. According to Rotterdam criteria, three factors are necessary for its diagnosis such as hyperandrogenism, irregular menstruation and polycystic ovaries on ultrasound. It also results in increased chances of obesity, type two diabetes and cardiovascular diseases. We compared various factors between PCOS women and healthy women after signing written consent by them, which revealed that PCOS women were more prone to Obesity, diabetes and irregular menstruation as compared to healthy women. In order to study genetic factors behind PCOS, we analyzed role of INSR gene polymorphism with the help of various bioinformatics tools showing role of non-synonymous SNP in causing damage to protein function. Structural comparison between wild type and mutant strain of protein showed no interaction between protein and ligand but having impact on protein stability predicted by I-mutant server showed that SNP at position 1161 where alanine changes to threonine resulting in decreased protein stability. The protein 3D structure was further validate by Ramachandran plot.