Association between FTO rs9939609 risk genotypes and branched-chain amino acid intake in Brazilian adults from the CUME study

IF 0.3 Q4 NUTRITION & DIETETICS

CAHIERS DE NUTRITION ET DE DIETETIQUE Pub Date : 2026-08-01 Epub Date: 2026-09-24 DOI:10.1016/j.cnd.2026.08.069

Fernanda Maria Oliveira da Silva, Isabella Mendes, Adriano Marçal Pimenta, Júlia Cristina Cardoso Carraro, Milene Cristine Pessoa, Helen Hermana Miranda Hermsdorff, Josefina Bressan

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Therefore, this study investigated the association between FTO rs9939609 risk genotypes and higher tertiles of BCAA intake in Brazilian adults.</div></div><div>Increased branched-chain amino acid (BCAA) intake and <em>FTO</em> gene variants have both been associated with obesity. Although the FTO rs9939609 polymorphism has been linked to higher protein intake and altered eating behavior, its association with BCAA intake remains unclear. Therefore, this study investigated the association between FTO rs9939609 risk genotypes and higher tertiles of BCAA intake in Brazilian adults.</div><div><h3>Methods</h3><div>This cross-sectional study included 508 participants (120 men and 388 women; mean age=35.9 years) from the Cohort of Universities of Minas Gerais (CUME Study). Participants were genotyped for the rs9939609 SNP using oral epithelial cell samples. BCAA intake was assessed using a validated 144-item semi-quantitative food frequency questionnaire and adjusted for total energy using the residual method. Ordinal logistic regression models, adjusted for sex, age, skin color, per capita income, binge drinking, and physical activity, were used to evaluate whether FTO risk genotypes were associated with higher tertiles of BCAA intake. Adjustment variables were selected using a directed acyclic graph. Associations were estimated using odds ratios (OR) and 95% confidence intervals (95%CI). Analyses were performed using Stata 13.1, adopting a significance level of 5%. This study was approved by the Human Research Ethics Committee (No. 6.048.479/2023), and all participants provided informed consent.</div></div><div>This cross-sectional study included 508 participants (120 men and 388 women; mean age=35.9 years) from the Cohort of Universities of Minas Gerais (CUME Study). Participants were genotyped for the rs9939609 SNP using oral epithelial cell samples. BCAA intake was assessed using a validated 144-item semi-quantitative food frequency questionnaire and adjusted for total energy using the residual method. Ordinal logistic regression models, adjusted for sex, age, skin color, per capita income, binge drinking, and physical activity, were used to evaluate whether FTO risk genotypes were associated with higher tertiles of BCAA intake. Adjustment variables were selected using a directed acyclic graph. Associations were estimated using odds ratios (OR) and 95% confidence intervals (95%CI). Analyses were performed using Stata 13.1, adopting a significance level of 5%. This study was approved by the Human Research Ethics Committee (No. 6.048.479/2023), and all participants provided informed consent.</div><div><h3>Results</h3><div>Genotype frequencies were 38.0% TT, 47.6% AT, and 14.4% AA, and were in Hardy–Weinberg equilibrium (<em>P</em>  =0.026), with the AA group presenting higher median intake [16.20g (IQR: 14.01–19.33)] than TT [15.10g (IQR: 12.23–17.57)] and AT [14.80g (IQR: 12.54–17.50)]. Participants carrying the AA genotype had higher odds of belonging to higher tertiles of total BCAA intake compared with TT carriers (OR=1.73; 95% CI: 1.05–2.86; <em>P</em>  >0.05).</div></div><div>Genotype frequencies were 38.0% TT, 47.6% AT, and 14.4% AA, and were in Hardy–Weinberg equilibrium (<em>P</em>  =0.026), with the AA group presenting higher median intake [16.20g (IQR: 14.01–19.33)] than TT [15.10g (IQR: 12.23–17.57)] and AT [14.80g (IQR: 12.54–17.50)]. Participants carrying the AA genotype had higher odds of belonging to higher tertiles of total BCAA intake compared with TT carriers (OR=1.73; 95% CI: 1.05–2.86; <em>P</em>  >0.05).</div><div><h3>Conclusion</h3><div>The findings indicate a positive association between the FTO homozygous risk genotype (AA) and higher BCAA intake categories, reinforcing the hypothesis that genetic predisposition may influence eating behavior related to amino acid intake in obesity. These findings are relevant given the evidence linking excessive BCAA intake to obesity and cardiometabolic risk.</div></div><div>The findings indicate a positive association between the FTO homozygous risk genotype (AA) and higher BCAA intake categories, reinforcing the hypothesis that genetic predisposition may influence eating behavior related to amino acid intake in obesity. 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引用次数: 0

Abstract

Background/objective

Increased branched-chain amino acid (BCAA) intake and FTO gene variants have both been associated with obesity. Although the FTO rs9939609 polymorphism has been linked to higher protein intake and altered eating behavior, its association with BCAA intake remains unclear. Therefore, this study investigated the association between FTO rs9939609 risk genotypes and higher tertiles of BCAA intake in Brazilian adults.

Methods

This cross-sectional study included 508 participants (120 men and 388 women; mean age = 35.9 years) from the Cohort of Universities of Minas Gerais (CUME Study). Participants were genotyped for the rs9939609 SNP using oral epithelial cell samples. BCAA intake was assessed using a validated 144-item semi-quantitative food frequency questionnaire and adjusted for total energy using the residual method. Ordinal logistic regression models, adjusted for sex, age, skin color, per capita income, binge drinking, and physical activity, were used to evaluate whether FTO risk genotypes were associated with higher tertiles of BCAA intake. Adjustment variables were selected using a directed acyclic graph. Associations were estimated using odds ratios (OR) and 95% confidence intervals (95%CI). Analyses were performed using Stata 13.1, adopting a significance level of 5%. This study was approved by the Human Research Ethics Committee (No. 6.048.479/2023), and all participants provided informed consent.

Results

Genotype frequencies were 38.0% TT, 47.6% AT, and 14.4% AA, and were in Hardy–Weinberg equilibrium (P > 0.05). Total BCAA intake differed across genotypes (P = 0.026), with the AA group presenting higher median intake [16.20 g (IQR: 14.01–19.33)] than TT [15.10 g (IQR: 12.23–17.57)] and AT [14.80 g (IQR: 12.54–17.50)]. Participants carrying the AA genotype had higher odds of belonging to higher tertiles of total BCAA intake compared with TT carriers (OR = 1.73; 95% CI: 1.05–2.86; P = 0.032); (Brant test, P > 0.05).

Conclusion

The findings indicate a positive association between the FTO homozygous risk genotype (AA) and higher BCAA intake categories, reinforcing the hypothesis that genetic predisposition may influence eating behavior related to amino acid intake in obesity. These findings are relevant given the evidence linking excessive BCAA intake to obesity and cardiometabolic risk.

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来自CUME研究的巴西成年人FTO rs9939609风险基因型与支链氨基酸摄入量之间的关系

背景/目的支链氨基酸（BCAA）摄入增加和FTO基因变异都与肥胖有关。尽管FTO rs9939609多态性与较高的蛋白质摄入量和改变的饮食行为有关，但其与BCAA摄入量的关系尚不清楚。因此，本研究调查了FTO rs9939609风险基因型与巴西成年人BCAA摄入较高百分比之间的关系。支链氨基酸（BCAA）摄入增加和FTO基因变异都与肥胖有关。尽管FTO rs9939609多态性与较高的蛋白质摄入量和改变的饮食行为有关，但其与BCAA摄入量的关系尚不清楚。因此，本研究调查了FTO rs9939609风险基因型与巴西成年人BCAA摄入较高百分比之间的关系。方法本横断面研究包括来自米纳斯吉拉斯州大学队列（CUME研究）的508名参与者（120名男性和388名女性，平均年龄= 35.9岁）。使用口腔上皮细胞样本对参与者进行rs9939609 SNP基因分型。BCAA摄入量采用经验证的144项半定量食物频率问卷进行评估，并使用残差法调整总能量。通过调整性别、年龄、肤色、人均收入、酗酒和体力活动等因素后的有序logistic回归模型，评估FTO风险基因型是否与较高的支链氨基酸摄入量相关。采用有向无环图选择调整变量。使用比值比（OR）和95%置信区间（95% ci）估计相关性。采用Stata 13.1进行分析，显著性水平为5%。本研究经人类研究伦理委员会批准（No. 6.048.479/2023），所有参与者均提供知情同意。这项横断面研究包括来自米纳斯吉拉斯州大学队列（CUME研究）的508名参与者（120名男性和388名女性，平均年龄= 35.9岁）。使用口腔上皮细胞样本对参与者进行rs9939609 SNP基因分型。BCAA摄入量采用经验证的144项半定量食物频率问卷进行评估，并使用残差法调整总能量。通过调整性别、年龄、肤色、人均收入、酗酒和体力活动等因素后的有序logistic回归模型，评估FTO风险基因型是否与较高的支链氨基酸摄入量相关。采用有向无环图选择调整变量。使用比值比（OR）和95%置信区间（95% ci）估计相关性。采用Stata 13.1进行分析，显著性水平为5%。本研究经人类研究伦理委员会批准（No. 6.048.479/2023），所有参与者均提供知情同意。结果TT基因型频率为38.0%，AT基因型频率为47.6%，AA基因型频率为14.4%，处于Hardy-Weinberg平衡（P > 0.05）。不同基因型的总BCAA摄入量存在差异（P = 0.026）， AA组的中位摄入量[16.20 g (IQR: 14.01-19.33)]高于TT组[15.10 g (IQR: 12.23-17.57)]和AT组[14.80 g (IQR: 12.54-17.50)]。与TT携带者相比，携带AA基因型的参与者有更高的几率属于BCAA总摄入量的高分位数（OR = 1.73; 95% CI: 1.05-2.86; P = 0.032）；（Brant检验，P > 0.05）。TT基因型频率为38.0%，AT基因型频率为47.6%，AA基因型频率为14.4%，处于Hardy-Weinberg平衡（P > 0.05）。不同基因型的总BCAA摄入量存在差异（P = 0.026）， AA组的中位摄入量[16.20 g (IQR: 14.01-19.33)]高于TT组[15.10 g (IQR: 12.23-17.57)]和AT组[14.80 g (IQR: 12.54-17.50)]。与TT携带者相比，携带AA基因型的参与者有更高的几率属于BCAA总摄入量的高分位数（OR = 1.73; 95% CI: 1.05-2.86; P = 0.032）；（Brant检验，P > 0.05）。结论FTO纯合风险基因型（AA）与高BCAA摄入类别呈正相关，强化了遗传易感性可能影响肥胖患者与氨基酸摄入相关的饮食行为的假设。这些发现是相关的，因为有证据表明过量摄入BCAA与肥胖和心脏代谢风险有关。研究结果表明，FTO纯合风险基因型（AA）与较高的BCAA摄入类别之间存在正相关，从而加强了遗传易感性可能影响肥胖患者与氨基酸摄入相关的饮食行为的假设。这些发现是相关的，因为有证据表明过量摄入BCAA与肥胖和心脏代谢风险有关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

CAHIERS DE NUTRITION ET DE DIETETIQUE NUTRITION & DIETETICS-

CiteScore

0.60

自引率

33.30%

发文量

审稿时长

65 days

期刊介绍： Les Cahiers de nutrition et de diététique sont le lieu de communication reconnu pour les médecins spécialistes de la nutrition, les diététiciens, les professionnels et les chercheurs de agro-alimentaire, les enseignants et les étudiants. Les Cahiers de nutrition et de diététique abordent les sujets se rapportant à la biologie générale, à la médecine et à la nutrition, aux aliments, aux comportements alimentaires, à la diététique pratique, ainsi que des thèmes variés : activité physique, apports nutritionnels conseillés, dénutrition, alcool, obésité de enfant, aliments à effet santé, plaisir alimentaire, restauration collective, goûters et collations, allergies alimentaires...