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Revista chilena de pediatría

versión impresa ISSN 0370-4106


ULLOA, Natalia et al. Association between FTO gene rs9939609 and adiposity markers in Chilean children. Rev. chil. pediatr. [online]. 2020, vol.91, n.3, pp.371-378. ISSN 0370-4106.


Obesity is considered a chronic inflammatory disease with an important genetic component. Although several studies have reported an association between the FTO (fat-mass associated gene) and adiposity in children, there is limited evidence in the Chilean population.


To deter mine the association between the polymorphism rs9939609 of the FTO gene and markers of adipo sity in Chilean children.

Patients and Method:

Cross-sectional study which included 361 children aged between 6 and 11 years (50% were girls). Between March and June 2008, clinical data and blood sample collection was carried out. The rs9939609 single-nucleotide polymorphism (SNP) of the FTO gene, was determined using the genomic DNA extracted from leukocytes, using the QIAamp DNA Blood Mini Kit (Qiagen GmbH, Hilden, Germany).The adiposity markers included were body mass index (BMI), waist circumference (WC), body fat, and WC/H index; which were later compared adjusted by sex, age, and Tanner stage. Linear regression analyses were conducted to detect the association between the polymorphism and obesity markers.


After adjusting the models by age, sex, and Tanner stage, we found a significant association between the polymorphism and markers of adiposity. For each extra copy of the risk allele, we found an increase of 2.47 kg body weight (95% CI: 1.39-3.55); 1.06 kg/m2 BMI (95% CI: 0.56-1.54); 2.55 cm WC, (95% CI: 1.26-3.85); and 1.98% body fat (95% CI: 0.78-3.19). When converting adiposity markers to z-score, we found that WC/height index shows the strongest association with the risk allele FTO.


This study supports the association between the rs9939609 SNP of the FTO gene and overall and central adiposity markers in Chilean children.

Palabras clave : Obesity; FTO; Genotype; Children; Body Mas Index.

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