A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes

Ida Moltke, Niels Grarup, Marit E. Jørgensen, Peter Bjerregaard, Jonas T. Treebak, Matteo Fumagalli, Thorfinn S. Korneliussen, Marianne A. Andersen, Thomas S. Nielsen, Nikolaj T. Krarup, Anette P. Gjesing, Juleen R. Zierath, Allan Linneberg, Xueli Wu, Guangqing Sun, Xin Jin, Jumana Al-Aama, Jun Wang, Knut Borch-Johnsen, Oluf Pedersen, Rasmus Nielsen, Anders Albrechtsen () and Torben Hansen ()
Additional contact information
Ida Moltke: The Bioinformatics Centre, University of Copenhagen, 2200 Copenhagen, Denmark
Niels Grarup: The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark
Marit E. Jørgensen: Steno Diabetes Center, 2820 Gentofte, Denmark
Peter Bjerregaard: National Institute of Public Health, University of Southern Denmark, 1353 Copenhagen, Denmark
Jonas T. Treebak: The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Integrative Physiology, Faculty of Health and Medical Sciences, University of Copenhagen, 2200 Copenhagen, Denmark
Matteo Fumagalli: University of California
Thorfinn S. Korneliussen: Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, 1350 Copenhagen, Denmark
Marianne A. Andersen: The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Integrative Physiology, Faculty of Health and Medical Sciences, University of Copenhagen, 2200 Copenhagen, Denmark
Thomas S. Nielsen: The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Integrative Physiology, Faculty of Health and Medical Sciences, University of Copenhagen, 2200 Copenhagen, Denmark
Nikolaj T. Krarup: The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark
Anette P. Gjesing: The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark
Juleen R. Zierath: The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Integrative Physiology, Faculty of Health and Medical Sciences, University of Copenhagen, 2200 Copenhagen, Denmark
Allan Linneberg: Research Centre for Prevention and Health, Glostrup University Hospital, 2600 Glostrup, Denmark
Xueli Wu: BGI-Shenzhen
Guangqing Sun: BGI-Shenzhen
Xin Jin: BGI-Shenzhen
Jumana Al-Aama: BGI-Shenzhen
Jun Wang: The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark
Knut Borch-Johnsen: Holbaek Hospital, 4300 Holbaek, Denmark
Oluf Pedersen: The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark
Rasmus Nielsen: University of California
Anders Albrechtsen: The Bioinformatics Centre, University of Copenhagen, 2200 Copenhagen, Denmark
Torben Hansen: The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark

Nature, 2014, vol. 512, issue 7513, 190-193

Abstract: An association mapping study of type-2-diabetes-related quantitative traits in the Greenlandic population identified a common variant in TBC1D4 that increases plasma glucose levels and serum insulin levels after an oral glucose load and type 2 diabetes risk, with effect sizes several times larger than any previous findings of large-scale genome-wide association studies for these traits.

Date: 2014
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DOI: 10.1038/nature13425

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