Implication of Heterozygous Variants in Genes of the Leptin-Melanocortin Pathway in Severe Obesity.

Sophie Courbage Christine Poitou Johanne Le Beyec-Le BihanAlexandra KarsentyJulie LemaleVéronique PellouxJean-Marc LacorteJean-Claude CarelNathalie LecomteCaroline StoreyGianpaolo De FilippoMuriel CoupayeJean-Michel Oppert Patrick Tounian Karine Clément Beatrice Dubern

Published in: The Journal of clinical endocrinology and metabolism (2021)

Heterozygous variants in LEP, LEPR, POMC, and PCSK1 are frequent in severe obesity and sometimes associated with a phenotype close to that of homozygotes. These data suggest a systematic search for variants in severe early-onset obesity, to discuss therapy that targets this key pathway.

Keyphrases

early onset
late onset
insulin resistance
metabolic syndrome
weight loss
copy number
high fat diet induced
type diabetes
weight gain
genome wide
big data
gene expression
mesenchymal stem cells
transcription factor
drug induced
artificial intelligence
cell therapy