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

Unlike homozygous variants, the implication of heterozygous variants on the leptin-melanocortin pathway in severe obesity has not been established. To describe the frequency, the phenotype, and the genotype-phenotype relationship for heterozygous variants in LEP, LEPR, POMC, and PCSK1 in severe obes...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2021-10, Vol.106 (10), p.2991-3006
Hauptverfasser:	Courbage, Sophie, Poitou, Christine, Le Beyec-Le Bihan, Johanne, Karsenty, Alexandra, Lemale, Julie, Pelloux, Véronique, Lacorte, Jean-Marc, Carel, Jean-Claude, Lecomte, Nathalie, Storey, Caroline, De Filippo, Gianpaolo, Coupaye, Muriel, Oppert, Jean-Michel, Tounian, Patrick, Clément, Karine, Dubern, Béatrice
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age of Onset Analysis Body Mass Index Child Children Female Genes Genetic aspects Genetic Association Studies Genetic Variation Health aspects Heterozygote Homozygote Humans Leptin Leptin - genetics Life Sciences Male Obesity, Morbid - genetics Phenotype Pro-Opiomelanocortin - genetics Proprotein Convertase 1 - genetics Receptors, Leptin - genetics Retrospective Studies Signal Transduction - genetics
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