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

Human loss-of-function variants in the serotonin 2C receptor associated with obesity and maladaptive behavior

Yang He, Bas Brouwers, Hesong Liu, Hailan Liu, Katherine Lawler, Edson Mendes de Oliveira, Dong-Kee Lee, Yongjie Yang, Aaron R. Cox, Julia M. Keogh, Elana Henning, Rebecca Bounds, Aliki Perdikari, V. Ayinampudi, Chunmei Wang, Meng Yu, Longlong Tu, Nan Zhang, Na Yin, Junying Han, Nikolas A. Scarcelli, Zili Yan, Kristie Conde, Camille HS. Potts, Jonathan C. Bean, Mengjie Wang, Sean M. Hartig, Lan Liao, Jianming Xu, Inês Barroso, Jacek Mokrosiński, Yong Xu, I. Sadaf Farooqi

Nature Medicine · 2022

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Summary

This study characterised loss-of-function variants in the human serotonin 2C receptor (HTR2C), demonstrating their association with severe obesity and maladaptive behaviour. The authors propose that melanocortin receptor agonists may offer therapeutic benefit for individuals carrying these variants and recommend HTR2C inclusion in diagnostic gene panels for severe childhood-onset obesity.

Regional applicability

Whilst conducted internationally, these findings are relevant to United Kingdom clinical practice and genetic screening protocols for severe childhood-onset obesity. The pharmacological recommendations would apply to UK paediatric obesity management if HTR2C screening is adopted into diagnostic pathways.

Key measures

HTR2C gene variants; obesity phenotype; behavioural outcomes; response to melanocortin receptor agonists

Outcomes reported

The study identified human loss-of-function variants in the HTR2C gene associated with obesity and maladaptive behaviour. The findings suggest potential therapeutic targets for treating severe obesity in individuals carrying these genetic variants.

Theme
Nutrition & health
Subject
Dietary patterns & chronic disease
Study type
Research
Study design
Human genetic and clinical study
Source type
Peer-reviewed study
Status
Published
Geography
International
System type
Human clinical
DOI
10.1038/s41591-022-02106-5
Catalogue ID
SNmp6e6wxx-h4auyg

Topic tags

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