Pulse Brain · Growing Health Evidence Index
Tier 3 — Observational / field trialPeer-reviewed

Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity

Robert Šket, Primož Kotnik, Barbara Jenko Bizjan, Valentina Kocen, Matej Mlinarič, Tine Tesovnik, Maruša Debeljak, Tadej Battelino, Jernej Kovač

Frontiers in Endocrinology · 2022

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Summary

This peer-reviewed study investigated heterozygous genetic variants in leptin-melanocortin pathway genes as potential contributors to early severe childhood obesity in a paediatric cohort. The authors propose that identifying these genetic variants could reduce societal burden and improve clinical management of obesity in children, with findings supporting further investigation of genetic screening implementation. The work bridges molecular genetics and clinical paediatrics to elucidate heritable mechanisms of obesity susceptibility.

Regional applicability

The study was conducted in Slovenia and may have limited direct applicability to United Kingdom populations without validation in UK paediatric cohorts. However, the leptin-melanocortin pathway is conserved across European populations, and findings could inform NHS clinical practice for identifying at-risk children if validated in larger, geographically diverse UK studies.

Key measures

Genetic variant prevalence and association with childhood obesity phenotypes; clinical management outcomes

Outcomes reported

The study examined associations between heterozygous genetic variants in autosomal recessive genes of the leptin-melanocortin signalling pathway and childhood obesity development. The research aimed to identify genetic risk factors that could inform clinical management of early severe childhood obesity.

Theme
Nutrition & health
Subject
Maternal, infant & child nutrition
Study type
Research
Study design
Observational cohort
Source type
Peer-reviewed study
Status
Published
Geography
Slovenia
System type
Human clinical
DOI
10.3389/fendo.2022.832911
Catalogue ID
SNmp6e6wxx-bfiybj

Topic tags

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