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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Pubblicato in:Cell Metab
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cell Press 2020
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7267775/
https://ncbi.nlm.nih.gov/pubmed/32492392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cmet.2020.05.007
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