The Genetic Basis of Metabolic Disease.

Alleles Chromosome Mapping Gene Frequency / genetics Genetic Predisposition to Disease Genetic Variation / genetics Genome-Wide Association Study Humans Metabolic Diseases / etiology Phenotype Quantitative Trait Loci

Journal

Cell
ISSN: 1097-4172
Titre abrégé: Cell
Pays: United States
ID NLM: 0413066

Informations de publication

Date de publication:
21 03 2019
Historique:
received: 03 01 2019
revised: 11 02 2019
accepted: 14 02 2019
entrez: 23 3 2019
pubmed: 23 3 2019
medline: 14 2 2020
Statut: ppublish

Résumé

Recent developments in genetics and genomics are providing a detailed and systematic characterization of the genetic underpinnings of common metabolic diseases and traits, highlighting the inherent complexity within systems for homeostatic control and the many ways in which that control can fail. The genetic architecture underlying these common metabolic phenotypes is complex, with each trait influenced by hundreds of loci spanning a range of allele frequencies and effect sizes. Here, we review the growing appreciation of this complexity and how this has fostered the implementation of genome-scale approaches that deliver robust mechanistic inference and unveil new strategies for translational exploitation.

Identifiants

DOI: 10.1016/j.cell.2019.02.024 PMID: 30901536 PMC: PMC6432945
pubmed: 30901536
pii: S0092-8674(19)30206-5
doi: 10.1016/j.cell.2019.02.024
pmc: PMC6432945
mid: NIHMS1523830
pii:
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

146-161

Subventions

Organisme : Wellcome Trust
ID : 098381
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 090367
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 203141
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/L020149/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 106130
Pays : United Kingdom
Organisme : NIDDK NIH HHS
ID : U01 DK105535
Pays : United States
Organisme : Medical Research Council
ID : MR/J010642/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 090532
Pays : United Kingdom
Organisme : Wellcome Trust
ID : WT206194
Pays : United Kingdom

Informations de copyright

Copyright © 2019 Elsevier Inc. All rights reserved.

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Auteurs

Inês Barroso (I)

Wellcome Sanger Institute, Hinxton, Cambridge CB10 1SA, UK. Electronic address: ines.barroso@mrc-epid.cam.ac.uk.

Mark I McCarthy (MI)

Wellcome Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK; Oxford Centre for Diabetes, Endocrinology, and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, UK; Oxford NIHR Biomedical Research Centre, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, UK.

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › The Genetic Basis of Metabolic Disease.
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Cartographie chromosomique › The Genetic Basis of Metabolic Disease.
questionsmedicales.fr › Phénomènes génétiques › Fréquence d'allèle › The Genetic Basis of Metabolic Disease.
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › The Genetic Basis of Metabolic Disease.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › The Genetic Basis of Metabolic Disease.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › The Genetic Basis of Metabolic Disease.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The Genetic Basis of Metabolic Disease.
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › The Genetic Basis of Metabolic Disease.
questionsmedicales.fr › Phénomènes génétiques › Phénotype › The Genetic Basis of Metabolic Disease.
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Locus génétiques › Locus de caractère quantitatif › The Genetic Basis of Metabolic Disease.