Vol 7, No 2 (2022)
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Published online: 2022-05-04

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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

Sylwia Mielcarska1, Kamila Stopińska1, Małgorzata Poręba1, Wioletta Szywacz1, Agata Macionga1, Nikola Szweda-Gandor1, Władysław Grzeszczak1
Medical Research Journal 2022;7(2):134-141.

Abstract

Introduction: Obesity is considered to be one of the most prevalent health problems which lead to diabetes
and cardiovascular diseases thus increasing mortality rate and decreasing life expectancy, particularly in
western countries. The variants within the FTO gene were identified to be associated with adiposity and
diabetes in genome-wide association studies (GWAS).
Aim of the study: To investigate the association between FTO rs17817449 polymorphism and risk of
obesity, type 2 diabetes, lipid disorders, and cardiovascular diseases: arterial hypertension and coronary
artery disease (CAD).
Material and methods: Study group consisted of 295 patients (159 women and 136 men). Collected venous
blood samples were stored at minus 70 C until the study group was completed. In the laboratory of the
Department and Clinic of Internal Medicine, Diabetology and Nephrology, Medical University of Silesia in
Zabrze the DNA material was isolated, proper concentration of the DNA (15 ng/μL) were prepared and
quality and quantity were checked by spectrophotometry. Allelic discrimination was performed in Roche
Lightcycler96 thermocycler with the use of fluorescent-labeled TaqMan Pre-designed SNP Genotyping
Assay probes.
Results: BMI, body fat percentage, and waist circumference did not differ by rs17817449 genotype. There
were no significant differences in genotypes distribution between patients with obesity and normal body
weight. 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 with
and without diabetes. Parameters of lipid profile (total cholesterol, HDL, LDL, TAG) and carbohydrate
metabolism (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 obesity
and type 2 diabetes mellitus in the Upper Silesian population was not confirmed in this study. The rs17817449
variant 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 in
rs17817449 or/and in other FTO gene polymorphisms and diabetes and cardiovascular diseases.

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