Genetics of body composition: From severe obesity to extreme leanness

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dc.catalogadorvzp
dc.contributor.authorCortes Mora, Víctor Antonio
dc.contributor.authorSantos Martin, José Luis
dc.date.accessioned2024-01-18T13:48:32Z
dc.date.available2024-01-18T13:48:32Z
dc.date.issued2020
dc.description.abstractThis chapter describes common genetic variations influencing body composition as well as rare mutations causing monogenic obesity or extreme leanness. Large population-based genome-wide association studies (GWAS) revealed more than 500 genetic loci associated with body mass index (BMI) and adiposity traits in the population. Common variations in FTO and MC4R genes are the most statistically consistent signals across studies. Although discoveries of new gene variants through GWAS are important for expanding underlying knowledge on body fat accumulation, their small effect make them insufficient for predicting obesity. Most cases of monogenic obesity are derived from rare mutations in genes belonging to the leptin-melanocortin pathway, such as LEP, LEPR, MC4R, or POMC genes. On the other extreme of BMI, the study of congenital generalized lipodystrophy syndrome has revealed mutations in AGPAT2, BSCL2, PTRF, and CAV1 genes. The evaluation of obesity and leanness as opposite phenotypes represents an interesting approach to assessing causal gene variations related to body composition.
dc.fuente.origenConveris
dc.identifier.isbn978-012804572-5
dc.identifier.isbn978-012804587-9
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/80608
dc.information.autorucEscuela de Medicina; Cortes Mora Victor Antonio; 0000-0002-1658-0965; 7576
dc.information.autorucEscuela de Medicina; Santos Martin Jose Luis; 0000-0003-2895-0369; 1005923
dc.language.isoen
dc.nota.accesoContenido parcial
dc.pagina.final173
dc.pagina.inicio167
dc.rightsacceso restringido
dc.subjectGenetic
dc.subjectHyperphagia
dc.subjectLeanness
dc.subjectLeptin
dc.subjectLipodystrophy
dc.subjectMelanocortin
dc.subjectObesity
dc.subject.ddc610
dc.subject.deweyMedicina y salud
dc.titleGenetics of body composition: From severe obesity to extreme leanness
dc.typecapítulo de libro
sipa.codpersvinculados7576
sipa.codpersvinculados1005923
sipa.trazabilidadConveris;20-07-2021
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