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ea0063gp132 | Obesity | ECE2019

Variants in genes of the leptin / melanocortin pathway are involved in 3% of cases of early-onset severe obesity

Bihan Johanne Le Beyec-Le , Poitou-Bernert Christine , Karsenty Alexandra , Pelloux Veronique , Lacorte Jean Marc , Tounian Patrick , Oppert Jean Michel , Clement Karine , Dubern Beatrice

The leptin/melanocortin pathway plays a critical role in hypothalamic control of food intake. Variants in the genes involved in this pathway, such as leptin (LEP), its receptor (LEPR), proopiomelanocortin (POMC) or proconvertase 1 (PCSK1) are associated with early-onset severe obesity and endocrine abnormalities especially in case of homozygosity. Heterozygous variants in the melanocortin-4 receptor (MC4R) gene are associated with an increased risk of severe obesity. The aim i...

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Endocrine Abstracts

Variants in genes of the leptin / melanocortin pathway are involved in 3% of cases of early-onset severe obesity

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