The Role of Functional Variants in the Etiology of Polycystic Ovary Syndrome

This study aimed to enhance the understanding of the genetic basis of polycystic ovary syndrome (PCOS) by identifying functional variants through exome sequencing. The research identified a novel variant, rs143321413, in the EEF2K gene within a family affected by PCOS, suggesting its potential involvement in the syndrome. The study successfully created mammalian expression vectors with both wildtype and mutant EEF2K sequences and optimized transfection protocols in HEK293FT cells to investigate the variant's functional role. Additionally, two more variants were discovered in newly sequenced individuals, indicating further potential genetic contributors to PCOS.