Influence of the FTO polymorphism rs17817449 on the risk of obesity, type 2 diabetes, and cardiovascular diseases in Upper Silesian population — a preliminary, cross-sectional study

Introduction: Obesity is considered to be one of the most prevalent health problems which lead to diabetesand cardiovascular diseases thus increasing mortality rate and decreasing life expectancy, particularly inwestern countries. The variants within the FTO gene were identified to be associated with adiposity anddiabetes in genome-wide association studies (GWAS).Aim of the study: To investigate the association between FTO rs17817449 polymorphism and risk ofobesity, type 2 diabetes, lipid disorders, and cardiovascular diseases: arterial hypertension and coronaryartery disease (CAD).Material and methods: Study group consisted of 295 patients (159 women and 136 men). Collected venousblood samples were stored at minus 70 C until the study group was completed. In the laboratory of theDepartment and Clinic of Internal Medicine, Diabetology and Nephrology, Medical University of Silesia inZabrze the DNA material was isolated, proper concentration of the DNA (15 ng/μL) were prepared andquality and quantity were checked by spectrophotometry. Allelic discrimination was performed in RocheLightcycler96 thermocycler with the use of fluorescent-labeled TaqMan Pre-designed SNP GenotypingAssay probes.Results: BMI, body fat percentage, and waist circumference did not differ by rs17817449 genotype. Therewere no significant differences in genotypes distribution between patients with obesity and normal bodyweight. We found a significant association of GT, but not GG genotype with lower risk of arterial hypertension(OR, 0.55; 95% CI, 0.325–0.940; p = 0.003) and coronary artery disease (OR, 0.3; 95% CI, 0.145–0.620);p = 0.001). The frequencies of the FTO genotypes did not differ significantly between individuals withand without diabetes. Parameters of lipid profile (total cholesterol, HDL, LDL, TAG) and carbohydratemetabolism (fasting glucose, fasting insulin, HOMA-IR, QUICKI) did not differ by s17817449 genotype.Conclusion: The association between the FTO polymorphism in rs17817449 and increased risk of obesityand type 2 diabetes mellitus in the Upper Silesian population was not confirmed in this study. The rs17817449variant of FTO gene may be related to decreased risk of arterial hypertension and coronary artery disease.Further studies in a larger cohort are required to confirm the association between FTO polymorphism inrs17817449 or/and in other FTO gene polymorphisms and diabetes and cardiovascular diseases