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World Journal of Pediatrics
Published in: World Journal of Pediatrics 1/2024

19-09-2023 | Obesity | Review Article

A comprehensive review of genetic causes of obesity

Authors: Marcio José Concepción-Zavaleta, Juan Eduardo Quiroz-Aldave, María del Carmen Durand-Vásquez, Elman Rolando Gamarra-Osorio, Juan del Carmen Valencia de la Cruz, Claudia Mercedes Barrueto-Callirgos, Susan Luciana Puelles-León, Elena de Jesús Alvarado-León, Frans Leiva-Cabrera, Francisca Elena Zavaleta-Gutiérrez, Luis Alberto Concepción-Urteaga, José Paz-Ibarra

Published in: World Journal of Pediatrics | Issue 1/2024

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Abstract

Background

Obesity is a multifactorial chronic disease with a high, increasing worldwide prevalence. Genetic causes account for 7% of the cases in children with extreme obesity.

Data sources

This narrative review was conducted by searching for papers published in the PubMed/MEDLINE, Embase and SciELO databases and included 161 articles. The search used the following search terms: “obesity”, “obesity and genetics”, “leptin”, “Prader-Willi syndrome”, and “melanocortins”. The types of studies included were systematic reviews, clinical trials, prospective cohort studies, cross-sectional and prospective studies, narrative reviews, and case reports.

Results

The leptin-melanocortin pathway is primarily responsible for the regulation of appetite and body weight. However, several important aspects of the pathophysiology of obesity remain unknown. Genetic causes of obesity can be grouped into syndromic, monogenic, and polygenic causes and should be assessed in children with extreme obesity before the age of 5 years, hyperphagia, or a family history of extreme obesity. A microarray study, an analysis of the melanocortin type 4 receptor gene mutations and leptin levels should be performed for this purpose. There are three therapeutic levels: lifestyle modifications, pharmacological treatment, and bariatric surgery.

Conclusions

Genetic study technologies are in constant development; however, we are still far from having a personalized approach to genetic causes of obesity. A significant proportion of the affected individuals are associated with genetic causes; however, there are still barriers to its approach, as it continues to be underdiagnosed.
Video Abstract (MP4 1041807 KB)
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Metadata
Title
A comprehensive review of genetic causes of obesity
Authors
Marcio José Concepción-Zavaleta
Juan Eduardo Quiroz-Aldave
María del Carmen Durand-Vásquez
Elman Rolando Gamarra-Osorio
Juan del Carmen Valencia de la Cruz
Claudia Mercedes Barrueto-Callirgos
Susan Luciana Puelles-León
Elena de Jesús Alvarado-León
Frans Leiva-Cabrera
Francisca Elena Zavaleta-Gutiérrez
Luis Alberto Concepción-Urteaga
José Paz-Ibarra
Publication date
19-09-2023
Publisher
Springer Nature Singapore
Published in
World Journal of Pediatrics / Issue 1/2024
Print ISSN: 1708-8569
Electronic ISSN: 1867-0687
DOI
https://doi.org/10.1007/s12519-023-00757-z

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