Melendez-Montañez Jesus M, De Jesus-Rojas Wilfredo
Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USA.
Genes (Basel). 2024 Mar 22;15(4):394. doi: 10.3390/genes15040394.
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.
儿童肥胖是一个重大的公共卫生问题，在西班牙裔人群中尤为突出。本研究旨在阐明西班牙裔血统的波多黎各儿童肥胖的遗传易感性，填补现有研究中的显著空白。对103名患有肥胖症和食欲亢进的儿童进行了罕见肥胖相关变异的基因筛查。进行了临床评估和家族史评估，以描述该队列的人口统计学和临床特征。基因检测显示变异的高患病率，73%的受试者至少有一个报告的变异。在7%的病例中发现了主要与肥胖相关的纤毛病相关的致病变异。此外，90%的病例有意义不确定的变异，突出了基因对肥胖影响的复杂性。本研究强调迫切需要进一步研究肥胖的遗传基础，特别是在西班牙裔社区内。研究结果强调了早期医学评估、对食欲亢进发作的密切监测以及针对波多黎各儿童独特遗传情况的针对性干预的重要性。这项研究为未来减轻该人群遗传性肥胖影响的研究提供了一个基础框架。
