The Tip of the Iceberg: Genotype of Puerto Rican Pediatric Obesity

TL;DR

This study explores the genetic factors contributing to obesity in Puerto Rican children, revealing a high prevalence of genetic variants linked to obesity.

Contribution

The study provides new insights into the genetic predisposition to obesity in Puerto Rican children, a population underrepresented in genetic research.

Findings

73% of the children had at least one reported genetic variant associated with obesity.

7% of cases had pathogenic variants linked to obesity-related ciliopathies.

90% of cases had variants of uncertain significance, indicating complex genetic contributions.

Abstract

Childhood obesity is a significant public health concern, particularly among Hispanic populations. This study aimed to elucidate the genetic predisposition to obesity in Puerto Rican children of Hispanic descent, addressing a notable gap in existing research. A cohort of 103 children with obesity and hyperphagia underwent genetic screening for rare obesity-related variants. Clinical assessments and family history evaluations were conducted to characterize the demographic and clinical characteristics of the cohort. Genetic testing revealed a high prevalence of variants, with 73% of subjects having at least one reported variant. Pathogenic variants, predominantly associated with obesity-related ciliopathies, were identified in 7% of cases. Additionally, 90% of cases had variants of uncertain significance, highlighting the complexity of genetic contributions to obesity. This study emphasizes the critical need for further investigation into the genetic foundations of obesity, particularly within Hispanic communities. The findings emphasize the importance of early medical evaluation, vigilant monitoring for hyperphagia onset, and targeted interventions tailored to the unique genetic landscape of Puerto Rican children. This research provides a foundational framework for future studies to mitigate the impact of genetic obesity within this population.

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