Melanocortin-4 Receptor Mutation and Early Onset of Obesity in Children

Background: Childhood obesity has become a critical global health concern, with genetic factors playing a significant role in early-onset cases. The melanocortin-4 receptor (MC4R) gene is recognized as a key regulator of appetite and energy balance, but its specific role in very young children remains understudied. Objective: This study investigated the relationship between MC4R gene polymorphism (rs12970134 and obesity risk in children under four years of age. and in relation to anthropometric measurements and metabolic parameters. Methods: We conducted a case-control study involving 100 participants: 50 obese children and 50 healthy controls, all under four years old. Genetic analysis focused on the MC4R rs12970134 polymorphism, and its association with anthropometric measurements and metabolic parameters was examined. Results: MC4R rs12970134 polymorphism showed a strong association with early-onset obesity. For rs12970134, the AA genotype increased obesity risk nearly 12-fold (OR = 12.35, p < 0.001) compared to the GG genotype. Children carrying risk variants exhibited significantly higher BMI, waist circumference, insulin resistance levels, and unfavourable lipid profiles. Conclusions: Our findings reveal that a specific MC4R gene variant substantially increases obesity risk in very young children, suggesting that genetic screening could help identify high-risk individuals early in life. The metabolic consequences associated with this variant underscore the importance of early intervention.