Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription

Obesity is genetically heterogeneous with monogenic and complex polygenic forms. Using exome and targeted sequencing in 2,737 severely obese cases and 6,704 controls, we identified three genes (PHIP, DGKI, and ZMYM4) with an excess burden of very rare predicted deleterious variants in cases. In cell...

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Detalles Bibliográficos
Autores principales: Marenne, Gaëlle, Hendricks, Audrey E., Perdikari, Aliki, Bounds, Rebecca, Payne, Felicity, Keogh, Julia M., Lelliott, Christopher J., Henning, Elana, Pathan, Saad, Ashford, Sofie, Bochukova, Elena G., Mistry, Vanisha, Daly, Allan, Hayward, Caroline, Wareham, Nicholas J., O’Rahilly, Stephen, Langenberg, Claudia, Wheeler, Eleanor, Zeggini, Eleftheria, Farooqi, I. Sadaf, Barroso, Inês
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cell Press 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7267775/
https://www.ncbi.nlm.nih.gov/pubmed/32492392
http://dx.doi.org/10.1016/j.cmet.2020.05.007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7267775/
https://www.ncbi.nlm.nih.gov/pubmed/32492392
http://dx.doi.org/10.1016/j.cmet.2020.05.007

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