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Updated: Sep 20, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Protein and total sugars intake modulate the rs9939609 single nucleotide polymorphism effect at the fat mass and
Luciana Olmedo1, Fernando Javier Luna2, Hernán Dopazo3
1Instituto de Investigaciones Bioquímicas de La Plata (CONICET- Facultad de Ciencias Médicas, Universidad Nacional de La Plata), Argentina; Programa de Referencia y Biobanco Genómico de la Población Argentina (PoblAr), Argentina.
Background And Aims:
The A allele of the rs9939609 single nucleotide polymorphism (SNP) at the fat mass and obesity-associated gene (FTO) has been linked to a higher body mass index (BMI). Still, some environmental factors could modulate this effect. This study aimed to find gene-nutrient interactions on BMI, visceral fat (VF), skeletal muscle (SM), and body fat (BF).
Methods:
The data were obtained from a cross-sectional investigation performed on Argentinian adults of both sexes. Body composition measurements were collected by bioelectrical impedance analysis, dietary variables by a food frequency questionnaire, and genetic data by real-time polymerase chain reaction (qPCR). Multiple linear regression was used to assess the per-allele effect on body composition, and covariance (ANCOVA) analysis was used to find gene-diet interactions.
Results:
The minor A variant increased BMI (1.4 kg/m2 [0.50-2.2], p = 0.002), BF (2.5 % [0.8-4.2], p = 0.004), and VF (0.7 arbitrary units [0.09-1.4], p = 0.026) and decreased SM (1.5 % [-2.5, 0.6], p = 0.009). Gene∗nutrient interaction terms were statistically significant for protein intake on BMI (ηp2 = 0.051, p = 0.027) and VF (ηp2 = 0.069, p = 0.005), for total sugars intake on BMI (ηp2 =0.051, p = 0.026), BF (ηp2 =0.062, p = 0.01) and VF (ηp2 =0.053, p = 0.018), and saturated fatty acids (SFA) intake on SM (ηp2=0.056, p = 0.018). Consistently, interactions were found for "milk and yogurt" (ηp2 = 0.052, p = 0.041) and "meat and eggs" (ηp2 = 0.039, p = 0.049) on BMI and for "meat and eggs" (ηp2 = 0.069, p = 0.006) and "fruits" (ηp2 = 0.054, p = 0.013) on VF.
Conclusion:
The A allele contributes to body composition variability, and diet modulates its effect.
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