Cited by 217Genetic Associations and EpidemiologyGenomics and Rare DiseasesDiabetes and associated disorders

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

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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·2018·Nature Genetics

DOI 10.1038/s41588-017-0022-7PMC PMC5828106

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Abstract

We have identified a variant in ADCY3 (encoding adenylate cyclase 3) associated with markedly increased risk of obesity and type 2 diabetes in the Greenlandic population. The variant disrupts a splice acceptor site, and carriers have decreased ADCY3 RNA expression. Additionally, we observe an enrichment of rare ADCY3 loss-of-function variants among individuals with type 2 diabetes in trans-ancestry cohorts. These findings provide new information on disease etiology relevant for future treatment strategies.

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Authors: Grarup, N., Moltke, I., Andersen, M. K., Dalby, M., Vitting-Seerup, K., Kern, T., Mahendran, Y., Jørsboe, E., Larsen, C. V. L., Dahl-Petersen, I. K., Gilly, A., Suveges, D., Dedoussis, G., Zeggini, E., Pedersen, O., Andersson, R., Bjerregaard, P., Jørgensen, M. E., Albrechtsen, A., & Hansen, T.
Affiliations: University of Copenhagen (DK)
Ilisimatusarfik (GL)
Wellcome Sanger Institute (GB)
Harokopio University of Athens (GR)
Corresponding author: Jørgensen, Marit E.
Albrechtsen, Anders
Hansen, Torben
ORCID: Grarup, Niels
Moltke, Ida
Andersen, Mette K.
Dalby, Maria
Kern, Timo
Mahendran, Yuvaraj
Jørsboe, Emil
Larsen, Christina V. L.
Gilly, Arthur
Dedoussis, George
Zeggini, Eleftheria
Pedersen, Oluf
Andersson, Robin
Bjerregaard, Peter
Jørgensen, Marit E.
Albrechtsen, Anders
Hansen, Torben
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2018-01-08
Volume: 50
Issue: 2
Pages: 172-174
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/s41588-017-0022-7
PMC: PMC5828106
OpenAlex: W2781623981
Cited by: 216
References: 43
Citations by year: 2026: 18 · 2025: 20 · 2024: 28 · 2023: 24 · 2022: 18 · 2021: 31 · 2020: 46 · 2019: 12 · 2018: 19
FWCI: 16.83
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: other-oa
www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, other-oa)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
University of Southern Denmark Research Portal (University of Southern Denmark) (submittedVersion, other-oa)
Funders: Broad Institute
Steno Diabetes Center Copenhagen (SDCC 3. B Epidemiology)
European Commission (HORIZON2020)
Lundbeckfonden (R215‐2015‐4174)
Novo Nordisk (NNF16OC0019986)
Danmarks Frie Forskningsfond (DFF-4090-00244, DFF-4181- 00383, 6108-00038B)
Copenhagen Graduate School for Nanoscience and Nanotechnology
Novo Nordisk Fonden (NNF16OC0019986, #NNF17OC0028136, NNF17SH0027192, NNF15SA0018486, NNFCC0018486, NNF15OC0017918)
Simon Fougner Hartmanns Familiefond
Novo Nordisk Foundation Center for Basic Metabolic Research
H. Lundbeck A/S
Medical Research Council
Comisión de Investigaciones Científicas
H2020 European Research Council (638173)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
Keywords: ADCY3, loss-of-function mutations, obesity, type 2 diabetes, splice acceptor site, RNA expression, Greenlandic Inuit, rare variants, disease risk
MeSH terms: Loss of Function Mutation, Adenylyl Cyclases, Adult, Aged, Aged, 80 and over, Diabetes Mellitus, Type 2, Inuit, Female, Gene Frequency, Genotype, Greenland, Humans, Male, Middle Aged, Obesity, Risk Factors, Cohort Studies, Case-Control Studies, Genetic Predisposition to Disease, Genome-Wide Association Study, Young Adult

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

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