Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes

We have identified a variant in adenylate cyclase 3 (ADCY3) associated with markedly increased risk of obesity and type 2 diabetes in the Greenlandic population. The variant disrupts a splice-acceptor site and carriers display decreased ADCY3 RNA expression. Additionally, we observe an enrichment of...

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Autores principales: Grarup, Niels, Moltke, Ida, Andersen, Mette K., Dalby, Maria, Vitting-Seerup, Kristoffer, Kern, Timo, Mahendran, Yuvaraj, Jørsboe, Emil, Larsen, Christina V. L., Dahl-Petersen, Inger K., Gilly, Arthur, Suveges, Daniel, Dedoussis, George, Zeggini, Eleftheria, Pedersen, Oluf, Andersson, Robin, Bjerregaard, Peter, Jørgensen, Marit E., Albrechtsen, Anders, Hansen, Torben
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828106/
https://www.ncbi.nlm.nih.gov/pubmed/29311636
http://dx.doi.org/10.1038/s41588-017-0022-7
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author Grarup, Niels
Moltke, Ida
Andersen, Mette K.
Dalby, Maria
Vitting-Seerup, Kristoffer
Kern, Timo
Mahendran, Yuvaraj
Jørsboe, Emil
Larsen, Christina V. L.
Dahl-Petersen, Inger K.
Gilly, Arthur
Suveges, Daniel
Dedoussis, George
Zeggini, Eleftheria
Pedersen, Oluf
Andersson, Robin
Bjerregaard, Peter
Jørgensen, Marit E.
Albrechtsen, Anders
Hansen, Torben
author_facet Grarup, Niels
Moltke, Ida
Andersen, Mette K.
Dalby, Maria
Vitting-Seerup, Kristoffer
Kern, Timo
Mahendran, Yuvaraj
Jørsboe, Emil
Larsen, Christina V. L.
Dahl-Petersen, Inger K.
Gilly, Arthur
Suveges, Daniel
Dedoussis, George
Zeggini, Eleftheria
Pedersen, Oluf
Andersson, Robin
Bjerregaard, Peter
Jørgensen, Marit E.
Albrechtsen, Anders
Hansen, Torben
author_sort Grarup, Niels
collection PubMed
description We have identified a variant in adenylate cyclase 3 (ADCY3) associated with markedly increased risk of obesity and type 2 diabetes in the Greenlandic population. The variant disrupts a splice-acceptor site and carriers display decreased ADCY3 RNA expression. Additionally, we observe an enrichment of rare ADCY3 loss-of-function variants among type 2 diabetes patients in trans-ethnic cohorts. These findings provide novel information on disease etiology relevant for future treatment strategies.
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spelling pubmed-58281062018-07-08 Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes Grarup, Niels Moltke, Ida Andersen, Mette K. Dalby, Maria Vitting-Seerup, Kristoffer Kern, Timo Mahendran, Yuvaraj Jørsboe, Emil Larsen, Christina V. L. Dahl-Petersen, Inger K. Gilly, Arthur Suveges, Daniel Dedoussis, George Zeggini, Eleftheria Pedersen, Oluf Andersson, Robin Bjerregaard, Peter Jørgensen, Marit E. Albrechtsen, Anders Hansen, Torben Nat Genet Article We have identified a variant in adenylate cyclase 3 (ADCY3) associated with markedly increased risk of obesity and type 2 diabetes in the Greenlandic population. The variant disrupts a splice-acceptor site and carriers display decreased ADCY3 RNA expression. Additionally, we observe an enrichment of rare ADCY3 loss-of-function variants among type 2 diabetes patients in trans-ethnic cohorts. These findings provide novel information on disease etiology relevant for future treatment strategies. 2018-01-08 2018-02 /pmc/articles/PMC5828106/ /pubmed/29311636 http://dx.doi.org/10.1038/s41588-017-0022-7 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
Grarup, Niels
Moltke, Ida
Andersen, Mette K.
Dalby, Maria
Vitting-Seerup, Kristoffer
Kern, Timo
Mahendran, Yuvaraj
Jørsboe, Emil
Larsen, Christina V. L.
Dahl-Petersen, Inger K.
Gilly, Arthur
Suveges, Daniel
Dedoussis, George
Zeggini, Eleftheria
Pedersen, Oluf
Andersson, Robin
Bjerregaard, Peter
Jørgensen, Marit E.
Albrechtsen, Anders
Hansen, Torben
Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes
title Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes
title_full Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes
title_fullStr Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes
title_full_unstemmed Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes
title_short Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes
title_sort loss-of-function variants in adcy3 increase risk of obesity and type 2 diabetes
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828106/
https://www.ncbi.nlm.nih.gov/pubmed/29311636
http://dx.doi.org/10.1038/s41588-017-0022-7
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