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.


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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  1. Loos RJF, Yeo GSH. The genetics of obesity: from discovery to biology. Nat Rev Genet. 2022; 23(2): 120–133.
  2. Jahangir E, De Schutter A, Lavie CJ. The relationship between obesity and coronary artery disease. Transl Res. 2014; 164(4): 336–344.
  3. Ichihara S, Yamada Y. Genetic factors for human obesity. Cell Mol Life Sci. 2008; 65(7-8): 1086–1098.
  4. Osayande OE, Azekhumen GN, Obuzor EO. Comparative study of different body fat measuring instruments. Niger J Physiol Sci. 2018; 33(2): 125–128.
  5. Frayling TM, Timpson NJ, Weedon MN, et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science. 2007; 316(5826): 889–894.
  6. Dina C, Meyre D, Gallina S, et al. Variation in FTO contributes to childhood obesity and severe adult obesity. Nat Genet. 2007; 39(6): 724–726.
  7. Sanchez-Pulido L, Andrade-Navarro MA. The FTO (fat mass and obesity associated) gene codes for a novel member of the non-heme dioxygenase superfamily. BMC Biochem. 2007; 8: 23.
  8. Hlatky MA, Chung SC, Escobedo J, et al. BARI 2D Study Group. The effect of obesity on quality of life in patients with diabetes and coronary artery disease. Am Heart J. 2010; 159(2): 292–300.
  9. Stoś K, Rychlik E, Woźniak A, et al. Prevalence and sociodemographic factors associated with overweight and obesity among adults in Poland: a 2019/2020 nationwide cross-sectional survey. Int J Environ Res Public Health. 2022; 19(3).
  10. Younus LA, Algenabi AH, Abdul-Zhara MS, et al. FTO gene polymorphisms (rs9939609 and rs17817449) as predictors of Type 2 Diabetes Mellitus in obese Iraqi population. Gene. 2017; 627: 79–84.
  11. Martorell M, Mardones L, Petermann-Rocha F, et al. Epidemiology of Lifestyle and Health Outcomes in Chile Consortium. The FTO rs17817449 polymorphism is not associated with sedentary time, physical activity, or cardiorespiratory fitness: findings from the GENADIO cross-sectional study. J Phys Act Health. 2021; 18(11): 1352–1357.
  12. Frayling TM. Genome-wide association studies provide new insights into type 2 diabetes aetiology. Nat Rev Genet. 2007; 8(9): 657–662.
  13. Cha SW, Choi SM, Kim KS, et al. Replication of genetic effects of FTO polymorphisms on BMI in a Korean population. Obesity (Silver Spring). 2008; 16(9): 2187–2189.
  14. Hunt SC, Stone S, Xin Y, et al. Association of the FTO gene with BMI. Obesity (Silver Spring). 2008; 16(4): 902–904.
  15. Horikoshi M, Hara K, Ito C, et al. Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population. Diabetologia. 2007; 50(12): 2461–2466.
  16. Li H, Wu Y, Loos RJF, et al. Variants in the fat mass- and obesity-associated (FTO) gene are not associated with obesity in a Chinese Han population. Diabetes. 2008; 57(1): 264–268.
  17. Wing MR, Ziegler J, Langefeld CD, et al. Analysis of FTO gene variants with measures of obesity and glucose homeostasis in the IRAS Family Study. Hum Genet. 2009; 125(5-6): 615–626.
  18. Barseem NF, El Ella SS, Tawfik MA, et al. The Potential Implication of FTO rs17817449 Gene Polymorphism on BMI Mediated Risk For Type2 Diabetes Among Obese Egyptian Children And Adolescents. Endocr Metab Immune Disord Drug Targets. 2019; 19(5): 697–704.
  19. Do R, Bailey SD, Desbiens K, et al. Genetic variants of FTO influence adiposity, insulin sensitivity, leptin levels, and resting metabolic rate in the Quebec Family Study. Diabetes. 2008; 57(4): 1147–1150.
  20. Hubacek JA, Dlouha D, Klementova M, et al. The FTO variant is associated with chronic complications of diabetes mellitus in Czech population. Gene. 2018; 642: 220–224.
  21. Falbová D, Vorobeľová L, Siváková D, et al. Association between FTO (rs17817449) genetic variant, gamma-glutamyl transferase, and hypertension in Slovak midlife women. Am J Hum Biol. 2021; 34(4): e23672.
  22. Xi Bo, Zhang M, Wang C, et al. The common SNP (rs9939609) in the FTO gene modifies the association between obesity and high blood pressure in Chinese children. Mol Biol Rep. 2013; 40(2): 773–778.
  23. Pausova Z, Syme C, Abrahamowicz M, et al. A common variant of the FTO gene is associated with not only increased adiposity but also elevated blood pressure in French Canadians. Circ Cardiovasc Genet. 2009; 2(3): 260–269.
  24. Äijälä M, Ronkainen J, Huusko T, et al. The fat mass and obesity-associated (FTO) gene variant rs9939609 predicts long-term incidence of cardiovascular disease and related death independent of the traditional risk factors. Ann Med. 2015; 47(8): 655–663.
  25. Bucyk B, Tupikowska M, Bednarek-Tupikowska G. Kryteria rozpoznania zespołu metabolicznej otyłości z prawidłową masą ciała (MONW). Endokrynol. Otył. Zab. Przem. Mat. 2009; 5(4): 226–232.
  26. Pastusiak K, Pupek-Musialik D, Bogdański P. Otyłość metaboliczna z prawidłową masa ciała ― kontrowersje w diagnostyce. Forum Zaburzeń Metabolicznych. 2018; 9(1): 9–15.
  27. Yaghootkar H, Scott RA, White CC, et al. Genetic evidence for a normal-weight "metabolically obese" phenotype linking insulin resistance, hypertension, coronary artery disease, and type 2 diabetes. Diabetes. 2014; 63(12): 4369–4377.
  28. Hosseini-Esfahani F, Koochakpoor G, Mirmiran P, et al. Dietary patterns modify the association between fat mass and obesity-associated genetic variants and changes in obesity phenotypes. Br J Nutr. 2019; 121(11): 1247–1254.
  29. Algenabi AA, Hussein MK, Hadi NR, et al. Assessing the Fat Mass and Obesity Associated Gene Polymorphisms (rs17817449 and rs1588413) in Obesity and Type 2 Diabetes Mellitus. Sys Rev Pharm. 2020; 11(6): 656–660.