Study of the common variant rs9939609 of FTO gene polymorphism in Polycystic Ovary Syndrome

Background: Genes associated with obesity might play a role in pathogenesis of PCOS such as fat mass and obesity associated (FTO) gene. Objective: To investigate the association between the common variant rs9939609 of FTO gene with PCOS in Egyptian women in respect to obesity and insulin resistance. Methods: This study was conducted on (50) Egyptian female patients diagnosed as PCOS according to the criteria of Rotterdam Revised (2003) (Group I, patients) and (50) age-matched apparently healthy females (Group II, controls). PCOS patients were classified according to obesity as well as insulin resistance. Detection of FTO rs9939609 polymorphism was done by real time polymerase chain reaction. Results: This study revealed a significant difference between group I and group II as regards FTO genotypes A/A, A/T and T/T with increase in frequency of A/T and T/T genotypes in PCOS patients (56% A/T and 8% T/T) compared with controls (4% and 0% respectively). Conclusion: FTO gene variant rs9939609 is associated with PCOS susceptibility in Egyptian women. The association has been demonstrated in both obese and non-obese patients as well as in PCOS patients with insulin resistance and non-insulin resistance.