首页|A comprehensive review of genetic causes of obesity

A comprehensive review of genetic causes of obesity

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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.

LeptinMelanocortinObesityPrader-Willi syndromePrecision medicine

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

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Universidad Científica del Sur,Bolivar 2150 Avenue,Pueblo Libre,15084 Lima,Peru

Division of Medicine,Hospital de Apoyo Chepén,Chepén,Peru

Division of Family Medicine,Hospital de Apoyo Chepén,Chepén,Peru

Division of Endocrinology,Hospital Víctor Lazarte Echegaray,Trujillo,Peru

Division of Pediatrics,Hospital de Apoyo Chepén,Chepén,Peru

Division of Internal Medicine,Hospital de Apoyo Chepén,Chepén,Peru

Division of Genetics,Universidad Nacional de Trujillo,Trujillo,Peru

Division of Neonatology,Hospital Belén de Trujillo,Trujillo,Peru

Division of Internal Medicine,Universidad Nacional de Trujillo,Trujillo,Peru

Department of Medicine,School of Medicine,Universidad Nacional Mayor de San Marcos,Lima,Peru

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2024

10.1007/s12519-023-00757-z

世界儿科杂志(英文版)

世界儿科杂志(英文版)

CSTPCD
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年,卷(期)：2024.20(1)
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