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

Nature

Volumn 512, Issue 7513, 2014, Pages 190-193

  Moltke, Ida ^a,b   Grarup, Niels ^c   Jørgensen, Marit E ^d   Bjerregaard, Peter ^e   Treebak, Jonas T ^c   Fumagalli, Matteo ^f   Korneliussen, Thorfinn S ^g   Andersen, Marianne A ^c   Nielsen, Thomas S ^c   Krarup, Nikolaj T ^c   Gjesing, Anette P ^c   Zierath, Juleen R ^c,h   Linneberg, Allan ⁱ   Wu, Xueli ^j   Sun, Guangqing ^j   Jin, Xin ^j   Al Aama, Jumana ^j,k   Wang, Jun ^a,c,j,k,l   Borch Johnsen, Knut ^m   Pedersen, Oluf ^c   Nielsen, Rasmus ^f   Albrechtsen, Anders ^a   Hansen, Torben ^c,n   more..

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b UNIVERSITY OF CHICAGO   (United States)

^c Capital Region   (Denmark)

^d STENO DIABETES CENTER   (Denmark)

^e UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g UNIVERSITY OF COPENHAGEN   (Denmark)

^h KAROLINSKA INSTITUTE   (Sweden)

ⁱ GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

^j BGI SHENZHEN   (China)

^k KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^l MACAU UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Macao)

^m HOLBÆK HOSPITAL   (Denmark)

ⁿ UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; GLUCOSE TRANSPORTER 4; INSULIN; MESSENGER RNA; MUSCLE PROTEIN; PROTEIN VARIANT; TBC1D4 PROTEIN; UNCLASSIFIED DRUG;

ALLELE; DIABETES; DISEASE PREVALENCE; ENZYME ACTIVITY; GENOTYPE; GLUCOSE; MUSCLE; PROTEIN; QUANTITATIVE ANALYSIS; SERUM;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC DRIFT; GENETIC VARIABILITY; GENOTYPE; GLUCOSE BLOOD LEVEL; GLUCOSE HOMEOSTASIS; GLUCOSE TRANSPORT; GREENLAND; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERGLYCEMIA; IMPAIRED GLUCOSE TOLERANCE; INSULIN BLOOD LEVEL; INSULIN RESISTANCE; INSULIN SENSITIVITY; MAJOR CLINICAL STUDY; MUSCLE BIOPSY; NON INSULIN DEPENDENT DIABETES MELLITUS; OBESITY; ORAL GLUCOSE TOLERANCE TEST; PRIORITY JOURNAL; QUANTITATIVE TRAIT; RECESSIVE INHERITANCE; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETAL MUSCLE;

ARCTIC; GREENLAND;

ADULT; BLOOD GLUCOSE; CODON, NONSENSE; DIABETES MELLITUS, TYPE 2; GENE FREQUENCY; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; GREENLAND; GTPASE-ACTIVATING PROTEINS; HUMANS; INSULIN; INSULIN RESISTANCE; MIDDLE AGED; MUSCLE, SKELETAL;

EID: 84906226932     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature13425     Document Type: Article

References (30)

1. Jørgensen, M. E., Bjerregaard, P. & Borch-Johnsen, K. Diabetes and impaired glucose tolerance among the Inuit population of Greenland. Diabetes Care 25, 1766-1771 (2002).
2. Scott, R. A. et al. Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nature Genet. 44, 991-1005 (2012).
3. Morris, A. P. et al.Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nature Genet. 44, 981-990 (2012).
4. Manning, A. K. et al. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nature Genet. 44, 659-669 (2012).
5. Rafnar, T. et al. Mutations in BRIP1 confer high risk of ovarian cancer. Nature Genet. 43, 1104-1107 (2011).
6. Jørgensen, M. E., Borch-Johnsen, K., Stolk, R. & Bjerregaard, P. Fat distribution and glucose intolerance among Greenland Inuit. Diabetes Care 36, 2988-2994 (2013).
7. Voight, B. F. et al. TheMetabochip, a customgenotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet. 8, e1002793 (2012).
8. Marchini, J., Cardon, L. R., Phillips, M. S. & Donnelly, P. The effects of human population structure on large genetic association studies. Nature Genet. 36, 512-517 (2004).
9. Bjerregaard, P. et al. Inuit health in Greenland: a population survey of life style and disease in Greenland and among Inuit living in Denmark. Int. J. Circumpolar Health 62 (suppl. 1), 3-79 (2003).
10. Gutt, M. et al. Validation of the insulin sensitivity index (ISI0,120): comparison with other measures. Diabetes Res. Clin. Pract. 47, 177-184 (2000).
11. Cederberg, H. et al. Postchallenge glucose, A1C, and fasting glucose as predictors of type 2 diabetes and cardiovascular disease: a 10-year prospective cohort study. Diabetes Care 33, 2077-2083 (2010).
12. The 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010).
13. Lohmueller, K. E. et al. Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes. Am. J. Hum. Genet. 93, 1072-1086 (2013).
14. NHLBI. NHLBI GO Exome Sequencing Project (Exome Variant Server) http://evs.gs.washington.edu/EVS/.
15. Sano, H. et al. Insulin-stimulated phosphorylation of a Rab GTPase-activating protein regulates GLUT4 translocation. J. Biol. Chem. 278, 14599-14602 (2003).
16. Wang, H. Y. et al. AS160 deficiency causes whole-body insulin resistance via composite effects in multiple tissues. Biochem. J. 449, 479-489 (2013).
17. Baus, D. et al. Identification of a novel AS160 splice variant that regulates GLUT4 translocation and glucose-uptake in rat muscle cells. Cell. Signal. 20, 2237-2246 (2008).
18. Dash, S. et al. A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia. Proc. Natl Acad. Sci. USA 106, 9350-9355 (2009).
19. Jørgensen, T. et al. A randomized non-pharmacological intervention study for prevention of ischaemic heart disease: baseline results Inter99. Eur. J. Cardiovasc. Prev. Rehabil. 10, 377-386 (2003).
20. Matthews, D. R. et al.Homeostasismodel assessment: insulin resistance and b-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 28, 412-419 (1985).
21. World Health Organization Study Group. Definition, Diagnosis and Classification of Diabetes Mellitus and Its Complications. Part 1: Diagnosis and Classification of Diabetes Mellitus Technical Report Series WHO/NCD/NCS/99.2 (World Health Organization, 1999).
22. Zhou, X. & Stephens, M. Genome-wide efficient mixed-model analysis for association studies. Nature Genet. 44, 821-824 (2012).
23. Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760 (2009).
24. McKenna, A. et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297-1303 (2010).
25. Li, H. A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data. Bioinformatics 27, 2987-2993 (2011).
26. Browning, B. L. & Browning, S. R. A unified approach to genotype imputation and haplotype-phase Inference for large data sets of trios and unrelated individuals. Am. J. Hum. Genet. 84, 210-223 (2009).
27. Treebak, J. T. et al. Potential role of TBC1D4 in enhanced post-exercise insulin action in human skeletal muscle. Diabetologia 52, 891-900 (2009).
28. Albrechtsen, A. et al. Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. Diabetologia 56, 298-310 (2013).
29. Alexander, D. H.,Novembre, J. & Lange, K. Fastmodel-based estimationof ancestry in unrelated individuals. Genome Res. 19, 1655-1664 (2009).
30. Moltke, I. & Albrechtsen, A. RelateAdmix: a software tool for estimating relatedness between admixed individuals. Bioinformatics 30, 1027-1028 (2014).