Google Scholar | Citations: 16429| h-index: 32 | i10-index: 482
Association between FTO gene polymorphisms and metabolic syndrome: clinical and genetic in evidence in different human populations
PDF (Portuguese (Brazil))

Keywords

Single nucleotide polymorphism
FTO gene
Metabolic syndrome
Obesity
Genetic disease susceptibility

How to Cite

Association between FTO gene polymorphisms and metabolic syndrome: clinical and genetic in evidence in different human populations. (2025). Electronic Journal Collection Health, 25(10), e22000. https://doi.org/10.25248/reas.e22000.2025

Copyright © | All rights reserved.

The journal holds the exclusive copyright for the publication of this article under the terms of Brazilian law 9610/98.

Partial reproduction
The use of parts of the texts, figures and questionnaire of the article is free, being mandatory the citation of the authors and journal.

Total reproduction
It is expressly prohibited and must be authorized by the journal.

Abstract

Objective: To investigate the association between FTO gene polymorphisms and clinical outcomes related to metabolic syndrome in diverse human populations. Methods: This is an integrative literature review conducted in PubMed, Scopus, and the Virtual Health Library (VHL), using controlled descriptors and Boolean operators. Studies published between 2014 and 2024 involving human populations in Portuguese, English, or Spanish were included. Selection followed defined criteria, with critical analysis of the collected data. Results: Sixteen studies were analyzed. The rs9939609 (T>A) polymorphism of the FTO gene was the most frequent, strongly associated with increased BMI, central obesity, insulin resistance, dyslipidemia, and hypertension. SNPs such as rs1421085 (T>C), rs17817449 (T>A, G), and rs8057044 (G>A) also showed clinical relevance in specific populations. Associations varied by ethnicity, sex, and age group. Asian, Latin American, and Middle Eastern populations showed higher prevalence of positive associations. Conclusion: FTO gene polymorphisms are relevant to understanding predisposition to metabolic syndrome. However, methodological heterogeneity and ethnic differences limit the generalization of findings.

PDF (Portuguese (Brazil))

References

BARROS LMC, MIRANDA LPA. Síndrome metabólica e sua relação com hábitos alimentares em indivíduos atendidos em uma clínica do Sul de Minas Gerais. Studies in Health Sciences. 2025; 6(1): e14900.

BEN HALIMA M, et al. The rs9939609 polymorphism in the fat mass and obesity associated (FTO) gene is associated with obesity in Tunisian population. Biomarkers. 2018; 23(8): 775-782.

ÇÖL N, et al. Adolescent obesity and the role of the fat mass and obesity-associated gene polymorphism. Clinical and Investigative Medicine. 2017; 40(6): E235-E242.

CUNHA RCS, et al. A influência do polimorfismo rs9939609 do gene FTO na predisposição à obesidade e na responsividade a diferentes disciplinas nutricionais. Revista Brasileira de Desenvolvimento. 2021; 7(4): 41743–41762.

CZOGAŁA W, et al. Methylation and Expression of FTO and PLAG1 Genes in Childhood Obesity: Insight into Anthropometric Parameters and Glucose–Lipid Metabolism. Nutrients. 2021; 13(5): 1683.

DE OLIVEIRA CB, et al. Obesidade e Síndrome Metabólica: Mecanismos Hormonais e Abordagem Terapêutica. Brazilian Journal of Implantology and Health Sciences. 2025; 7(3): 1789–1808.

ELQUEJ S, et al. Association of rs9939609 Polymorphism with Metabolic Parameters and FTO Risk Haplotype Among Tunisian Metabolic Syndrome. Metabolic Syndrome and Related Disorders. 2016a; 14(2): 1-8.

ELQUEJ S, et al. Association of Genetic Variants in the FTO Gene with Metabolic Syndrome: A Case-Control Study in the Tunisian Population. Journal of Diabetes and Its Complications. 2016b; 30(5): 815-821.

ENGIN A. The definition and prevalence of obesity and metabolic syndrome: correlative clinical evaluation based on phenotypes. In: Engin A, Engin AB, (orgs). Obesity and Lipotoxicity. Cham: Springer, 2024; p. 1-25.

FAHED G, et al. Metabolic Syndrome: Updates on Pathophysiology and Management in 2021. International Journal of Molecular Sciences. 2022; 23(2): 786.

FONSECA LV, et al. Síndrome metabólica: abordagem multidisciplinar, complicações e perspectivas futuras. Brazilian Journal of Health Review. 2024; 7(9): e74296.

GUCLU-GEYIK F, et al. Risk of obesity and metabolic syndrome associated with FTO gene variants discloses clinically relevant gender difference among Turks. Molecular Biology Reports. 2016; 43: 485–494.

HARDY DS, et al. Ancestry specific associations of FTO gene variant and metabolic syndrome: A longitudinal ARIC study. Medicine. 2020; 99(6): e18820.

LOPES JFCV. Obesidade e doenças crônicas no sistema único de saúde: estratégias para prevenção e controle. Revista CPAQV - Centro de Pesquisas Avançadas em Qualidade de Vida. 2025; 17(1): 15.

MASENGA SK, et al. Oxidative Stress Mechanisms in Metabolic Syndrome. International journal of molecular sciences. 2023; 24(9): 7898.

MOLINA-LUQUE R, et al. Association between the FTO SNP rs9939609 and Metabolic Syndrome in Chilean Children. Nutrients. 2021; 13(6): 2014.

NASCIMENTO GA, et al. FTO rs9939609 Does Not Interact with Physical Exercise but Influences Basal Insulin Metabolism in Brazilian Overweight and Obese Adolescents. Journal of Obesity. 2018; p. 3134026.

NASSER FA, et al. The association of the common fat mass and obesity associated gene polymorphisms with type 2 diabetes in obese Iraqi population. Diabetes & Metabolic Syndrome: Clinical Research & Reviews. 2019; 13(4): 2451-2455.

Neeland, I.J. et al. The metabolic syndrome. Nat Rev Dis Primers (2024) 10:77. DOI: 10.1038/s41572-024-00563-5.

PAPPAN N, AWOSIKA AO, REHMAN A. Dislipidemia. StatPearls. Ilha do Tesouro (FL): StatPearls Publishing. 2024.

OLIVEIRA ACC, et al. Efeitos dose-resposta da terapia vibratória sistêmica e a relação entre funcionalidade, flexibilidade, qualidade de vida, qualidade do sono, parâmetros bioquímicos e indicadores antropométricos em indivíduos com Síndrome Metabólica. Tese (Doutorado em Ciências da Saúde) – Universidade Federal de Sergipe, Lagarto, 2024.

OLIVEIRA LJS. Polimorfismo rs9939609 em FTO e sua relação com a obesidade. Revista Multidisciplinar em Saúde. 2022; 3(2): 79-89.

OLIVEIRA RC, et al. Síndrome metabólica e sua associação com polimorfismos nos genes FTO, TCF7L2 e ADRB3: uma revisão sistemática. Revista Eletrônica Acervo Saúde. 2023; 23(7): e13020.

OSMAN WM, et al. Clinical correlations and genetic associations of metabolic syndrome in the United Arab Emirates. Gene. 2020; 738: 144476.

RANA S, BHATTI AA. Association and interaction of the FTO rs1421085 with overweight/obesity in a sample of Pakistani individuals. Eating and Weight Disorders - Studies on Anorexia, Bulimia and Obesity. 2020; 25: 1321–1332.

REUTER ÉM, et al. FTO gene polymorphism and longitudinal changes in nutritional/obesity status in children and adolescents: Schoolchildren's health cohort study. European Journal of Pediatrics. 2021; 180: 3313-3321.

SALIBA LC, et al. Insulin Resistance and Metabolic Syndrome: Impact on Diabetes Progression. Journal of Medical and Biosciences Research. 2025; 2(2): 660–674.

SANTOS SP. Avaliação da síndrome metabólica e os fatores associados em profissionais de saúde que atuam em serviços de alta complexidade. Tese (Doutorado em Ciências da Saúde) – Universidade do Sul de Santa Catarina, Tubarão, 2022.

SEONG J, KANG JY, SUN JS, KIM KW. Hypothalamic inflammation and obesity: a mechanistic review. Arch Pharm Res. 2019 May;42(5):383-392.

SILVA NLR, et al. Alterações na ingestão energética e composição nutricional em pacientes submetidos à Bypass em Y-DE-ROUX: influência da variante rs17782313 próxima ao MC4R. Dissertação (Mestrado em Enfermagem) – Universidade Federal de Minas Gerais, Belo Horizonte, 2022.

SRIVASTAVA A, et al. Association of FTO and IRX3 genetic variants to obesity risk in north India. Annals of Human Biology. 2016; 43(2): 1-8.

WRZOSEK M, et al. Association between rs9930506 polymorphism of the fat mass & obesity-associated (FTO) gene & onset of obesity in Polish adults. Indian Journal of Medical Research. 2016; 143(3): 281-287.

YANG M, et al. The Effects of Genetic Variation in FTO rs9939609 on Obesity and Dietary Preferences in Chinese Han Children and Adolescents. PLoS ONE. 2014; 9(8): e104574.