Genetic Variant Linked to Childhood Obesity Uncovered by CHOP Researchers

Childhood Obesity: Genetic Breakthrough Reveals Key Role of Hypothalamus | The Lifesciences Magazine


Unraveling the Genetic Basis of Childhood Obesity

Children’s Hospital of Philadelphia (CHOP) researchers have made a significant breakthrough in understanding the genetic underpinnings of childhood obesity. Their study, published in Cell Genomics, identifies a causal genetic variant strongly associated with childhood obesity, shedding light on the crucial role of the hypothalamus in regulating food intake and weight.

Insights from Genome-wide Association Studies

Previous international genome-wide association studies (GWAS) conducted by CHOP investigators identified genetic markers linked to obesity. However, the focus of this latest research was on chr12q13, a locus housing the nearby FAIM2 gene, which exhibited a notably stronger signal with childhood obesity compared to adult obesity. This locus has also been implicated in other health issues like type 2 diabetes susceptibility and increased body fat percentage.

Unveiling the Mechanisms and Therapeutic Potential

Through meticulous investigation, the researchers honed in on a specific single nucleotide polymorphism (SNP), rs7132908, at the locus. They found that this variant influenced the expression of the FAIM2 gene and impacted neurodevelopment, particularly in the hypothalamus, which plays a crucial role in appetite regulation. This discovery offers insights into potential therapeutic interventions for childhood obesity, highlighting the importance of further research in this area.

Lead author Dr. Sheridan H. Littleton emphasized the potential for targeting the variant for novel therapies tailored to treating childhood obesity specifically. Dr. Struan F.A. Grant, Director of the Center for Spatial and Functional Genomics at CHOP, underscored the significance of this study in elucidating the genetic mechanisms underlying obesity and emphasized the centrality of the brain in this context.

Supported by grants from the National Institutes of Health and the Daniel B. Burke Endowed Chair for Diabetes Research, this study represents a crucial step forward in understanding and addressing childhood obesity on a molecular level.

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