Rare and common genetic events in type 2 diabetes: What should biologists know?

Cell Metabolism

Volumn 21, Issue 3, 2015, Pages 357-368

  Bonnefond, Amélie ^a,b,c   Froguel, Philippe ^a,b,c,d  

^a INSTITUT PASTEUR DE LILLE   (France)

^b UNIV LILLE   (France)

^c EGID FR3508 European Genomics Institute of Diabetes   (France)

^d HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DIABETIC PATIENT; FAMILY STUDY; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; MAJOR GENE; MEDICAL RESEARCH; MOLECULAR PATHOLOGY; NEXT GENERATION SEQUENCING; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; PRIORITY JOURNAL; REVIEW; RISK FACTOR; ANIMAL; GENETIC PREDISPOSITION; GENETICS; PROCEDURES;

ANIMALS; DIABETES MELLITUS, TYPE 2; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS;

EID: 84924545632     PISSN: 15504131     EISSN: 19327420     Source Type: Journal    
DOI: 10.1016/j.cmet.2014.12.020     Document Type: Review

References (107)

1. A. Albrechtsen, N. Grarup, Y. Li, T. Sparsø, G. Tian, H. Cao, T. Jiang, S.Y. Kim, T. Korneliussen, Q. Li D.E.S.I.R. Study Group DIAGRAM Consortium Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes Diabetologia 56 2013 298 310
2. P. Almgren, M. Lehtovirta, B. Isomaa, L. Sarelin, M.R. Taskinen, V. Lyssenko, T. Tuomi, L. Groop Botnia Study Group Heritability and familiality of type 2 diabetes and related quantitative traits in the Botnia Study Diabetologia 54 2011 2811 2819
3. K. Almind, C. Bjørbaek, H. Vestergaard, T. Hansen, S. Echwald, and O. Pedersen Aminoacid polymorphisms of insulin receptor substrate-1 in non-insulin-dependent diabetes mellitus Lancet 342 1993 828 832
4. American Diabetes Association Diagnosis and classification of diabetes mellitus Diabetes Care 36 1 2013 S67 S74
5. M.J. Bamshad, S.B. Ng, A.W. Bigham, H.K. Tabor, M.J. Emond, D.A. Nickerson, and J. Shendure Exome sequencing as a tool for Mendelian disease gene discovery Nat. Rev. Genet. 12 2011 745 755
6. I. Barroso, M. Gurnell, V.E. Crowley, M. Agostini, J.W. Schwabe, M.A. Soos, G.L. Maslen, T.D. Williams, H. Lewis, and A.J. Schafer Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension Nature 402 1999 880 883
7. C. Bellanné-Chantelot, C. Carette, J.-P. Riveline, R. Valéro, J.-F. Gautier, E. Larger, Y. Reznik, P.-H. Ducluzeau, A. Sola, and A. Hartemann-Heurtier The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3 Diabetes 57 2008 503 508
8. S.F. Boj, J.H. van Es, M. Huch, V.S.W. Li, A. José, P. Hatzis, M. Mokry, A. Haegebarth, M. van den Born, and P. Chambon Diabetes risk gene and Wnt effector Tcf7l2/TCF4 controls hepatic response to perinatal and adult metabolic demand Cell 151 2012 1595 1607
9. A. Bonnefond, M. Vaxillaire, Y. Labrune, C. Lecoeur, J.-C. Chèvre, N. Bouatia-Naji, S. Cauchi, B. Balkau, M. Marre, and J. Tichet Genetic variant in HK1 is associated with a proanemic state and A1C but not other glycemic control-related traits Diabetes 58 2009 2687 2697
10. A. Bonnefond, J. Philippe, E. Durand, A. Dechaume, M. Huyvaert, L. Montagne, M. Marre, B. Balkau, I. Fajardy, and A. Vambergue Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene PLoS ONE 7 2012 e37423
11. A. Bonnefond, N. Clément, K. Fawcett, L. Yengo, E. Vaillant, J.-L. Guillaume, A. Dechaume, F. Payne, R. Roussel, S. Czernichow Meta-Analysis of Glucose and Insulin-Related Traits Consortium (MAGIC) Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes Nat. Genet. 44 2012 297 301
12. A. Bonnefond, A. Raimondo, F. Stutzmann, M. Ghoussaini, S. Ramachandrappa, D.C. Bersten, E. Durand, V. Vatin, B. Balkau, and O. Lantieri Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features J. Clin. Invest. 123 2013 3037 3041
13. L.L. Bonnycastle, P.S. Chines, T. Hara, J.R. Huyghe, A.J. Swift, P. Heikinheimo, J. Mahadevan, S. Peltonen, H. Huopio, and P. Nuutila Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation Diabetes 62 2013 3943 3950
14. G.F. Bottazzo, A. Florin-Christensen, and D. Doniach Islet-cell antibodies in diabetes mellitus with autoimmune polyendocrine deficiencies Lancet 2 1974 1279 1283
15. N. Bouatia-Naji, A. Bonnefond, C. Cavalcanti-Proença, T. Sparsø, J. Holmkvist, M. Marchand, J. Delplanque, S. Lobbens, G. Rocheleau, and E. Durand A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk Nat. Genet. 41 2009 89 94
16. S. Cauchi, K.T. Nead, H. Choquet, F. Horber, N. Potoczna, B. Balkau, M. Marre, G. Charpentier, P. Froguel, and D. Meyre The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies BMC Med. Genet. 9 2008 45
17. Y.S. Cho, C.-H. Chen, C. Hu, J. Long, R.T.H. Ong, X. Sim, F. Takeuchi, Y. Wu, M.J. Go, T. Yamauchi DIAGRAM Consortium MuTHER Consortium Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians Nat. Genet. 44 2012 67 72
18. H.W. Davidson, J.M. Wenzlau, and R.M. O'Brien Zinc transporter 8 (ZnT8) and β cell function Trends Endocrinol. Metab. 25 2014 415 424
19. S.S. Deeb, L. Fajas, M. Nemoto, J. Pihlajamäki, L. Mykkänen, J. Kuusisto, M. Laakso, W. Fujimoto, and J. Auwerx A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity Nat. Genet. 20 1998 284 287
20. A.S. Dimas, V. Lagou, A. Barker, J.W. Knowles, R. Mägi, M.-F. Hivert, A. Benazzo, D. Rybin, A.U. Jackson, H.M. Stringham MAGIC Investigators Impact of type 2 diabetes susceptibility variants on quantitative glycemic traits reveals mechanistic heterogeneity Diabetes 63 2014 2158 2171
21. C. Dina, D. Meyre, S. Gallina, E. Durand, A. Körner, P. Jacobson, L.M.S. Carlsson, W. Kiess, V. Vatin, and C. Lecoeur Variation in FTO contributes to childhood obesity and severe adult obesity Nat. Genet. 39 2007 724 726
22. J. Dupuis, C. Langenberg, I. Prokopenko, R. Saxena, N. Soranzo, A.U. Jackson, E. Wheeler, N.L. Glazer, N. Bouatia-Naji, A.L. Gloyn DIAGRAM Consortium GIANT Consortium Global BPgen Consortium Anders Hamsten on behalf of Procardis Consortium MAGIC investigators New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk Nat. Genet. 42 2010 105 116
23. K. Estrada, I. Aukrust, L. Bjørkhaug, N.P. Burtt, J.M. Mercader, H. García-Ortiz, A. Huerta-Chagoya, H. Moreno-Macías, G. Walford, J. Flannick SIGMA Type 2 Diabetes Consortium Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population JAMA 311 2014 2305 2314
24. M. Falchi, J.S. El-Sayed Moustafa, P. Takousis, F. Pesce, A. Bonnefond, J.C. Andersson-Assarsson, P.H. Sudmant, R. Dorajoo, M.N. Al-Shafai, and L. Bottolo Low copy number of the salivary amylase gene predisposes to obesity Nat. Genet. 46 2014 492 497
25. J. Flannick, N.L. Beer, A.G. Bick, V. Agarwala, J. Molnes, N. Gupta, N.P. Burtt, J.C. Florez, J.B. Meigs, and H. Taylor Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes Nat. Genet. 45 2013 1380 1385
26. J. Flannick, G. Thorleifsson, N.L. Beer, S.B.R. Jacobs, N. Grarup, N.P. Burtt, A. Mahajan, C. Fuchsberger, G. Atzmon, R. Benediktsson Go-T2D Consortium T2D-GENES Consortium Loss-of-function mutations in SLC30A8 protect against type 2 diabetes Nat. Genet. 46 2014 357 363
27. J.C. Florez, K.A. Jablonski, N. Bayley, T.I. Pollin, P.I.W. de Bakker, A.R. Shuldiner, W.C. Knowler, D.M. Nathan, D. Altshuler Diabetes Prevention Program Research Group TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program N. Engl. J. Med. 355 2006 241 250
28. G. Forlani, S. Zucchini, A. Di Rocco, R. Di Luzio, M. Scipione, E. Marasco, G. Romeo, G. Marchesini, and V. Mantovani Double heterozygous mutations involving both HNF1A/MODY3 and HNF4A/MODY1 genes: a case report Diabetes Care 33 2010 2336 2338
29. T.M. Frayling, N.J. Timpson, M.N. Weedon, E. Zeggini, R.M. Freathy, C.M. Lindgren, J.R.B. Perry, K.S. Elliott, H. Lango, and N.W. Rayner A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity Science 316 2007 889 894
30. P. Froguel, M. Vaxillaire, F. Sun, G. Velho, H. Zouali, M.O. Butel, S. Lesage, N. Vionnet, K. Clément, and F. Fougerousse Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus Nature 356 1992 162 164
31. A.L. Gloyn, E.R. Pearson, J.F. Antcliff, P. Proks, G.J. Bruining, A.S. Slingerland, N. Howard, S. Srinivasan, J.M.C.L. Silva, and J. Molnes Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes N. Engl. J. Med. 350 2004 1838 1849
32. S.F.A. Grant, G. Thorleifsson, I. Reynisdottir, R. Benediktsson, A. Manolescu, J. Sainz, A. Helgason, H. Stefansson, V. Emilsson, and A. Helgadottir Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes Nat. Genet. 38 2006 320 323
33. L. Groop, and F. Pociot Genetics of diabetes - are we missing the genes or the disease? Mol. Cell. Endocrinol. 382 2014 726 739
34. E.H. Hani, P. Boutin, E. Durand, H. Inoue, M.A. Permutt, G. Velho, and P. Froguel Missense mutations in the pancreatic islet beta cell inwardly rectifying K+ channel gene (KIR6.2/BIR): a meta-analysis suggests a role in the polygenic basis of Type II diabetes mellitus in Caucasians Diabetologia 41 1998 1511 1515
35. C.L. Hanis, E. Boerwinkle, R. Chakraborty, D.L. Ellsworth, P. Concannon, B. Stirling, V.A. Morrison, B. Wapelhorst, R.S. Spielman, and K.J. Gogolin-Ewens A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2 Nat. Genet. 13 1996 161 166
36. R.L. Hanson, Y.L. Muller, S. Kobes, T. Guo, L. Bian, V. Ossowski, K. Wiedrich, J. Sutherland, C. Wiedrich, and D. Mahkee A genome-wide association study in American Indians implicates DNER as a susceptibility locus for type 2 diabetes Diabetes 63 2014 369 376
37. K. Hara, H. Fujita, T.A. Johnson, T. Yamauchi, K. Yasuda, M. Horikoshi, C. Peng, C. Hu, R.C.W. Ma, M. Imamura DIAGRAM consortium Genome-wide association study identifies three novel loci for type 2 diabetes Hum. Mol. Genet. 23 2014 239 246
38. M. Hornbak, K.H. Allin, M.L. Jensen, C.J. Lau, D. Witte, M.E. Jørgensen, A. Sandbæk, T. Lauritzen, Å. Andersson, O. Pedersen, and T. Hansen A combined analysis of 48 type 2 diabetes genetic risk variants shows no discriminative value to predict time to first prescription of a glucose lowering drug in Danish patients with screen detected type 2 diabetes PLoS ONE 9 2014 e104837
39. H. Inoue, Y. Tanizawa, J. Wasson, P. Behn, K. Kalidas, E. Bernal-Mizrachi, M. Mueckler, H. Marshall, H. Donis-Keller, and P. Crock A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) Nat. Genet. 20 1998 143 148
40. H. Inoue, N. Nagata, H. Kurokawa, and S. Yamanaka iPS cells: a game changer for future medicine EMBO J. 33 2014 409 417
41. A. Kong, V. Steinthorsdottir, G. Masson, G. Thorleifsson, P. Sulem, S. Besenbacher, A. Jonasdottir, A. Sigurdsson, K.T. Kristinsson, A. Jonasdottir DIAGRAM Consortium Parental origin of sequence variants associated with complex diseases Nature 462 2009 868 874
42. J.S. Kooner, D. Saleheen, X. Sim, J. Sehmi, W. Zhang, P. Frossard, L.F. Been, K.-S. Chia, A.S. Dimas, N. Hassanali DIAGRAM MuTHER Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci Nat. Genet. 43 2011 984 989
43. H. Li, W. Gan, L. Lu, X. Dong, X. Han, C. Hu, Z. Yang, L. Sun, W. Bao, P. Li DIAGRAM Consortium AGEN-T2D Consortium A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans Diabetes 62 2013 291 298
44. R.C.W. Ma, C. Hu, C.H. Tam, R. Zhang, P. Kwan, T.F. Leung, G.N. Thomas, M.J. Go, K. Hara, X. Sim DIAGRAM Consortium MuTHER Consortium Genome-wide association study in a Chinese population identifies a susceptibility locus for type 2 diabetes at 7q32 near PAX4 Diabetologia 56 2013 1291 1305
45. A. Mahajan, M.J. Go, W. Zhang, J.E. Below, K.J. Gaulton, T. Ferreira, M. Horikoshi, A.D. Johnson, M.C. Ng, I. Prokopenko DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium South Asian Type 2 Diabetes (SAT2D) Consortium Mexican American Type 2 Diabetes (MAT2D) Consortium Type 2 Diabetes Genetic Exploration by Nex-generation sequencing in muylti-Ethnic Samples (T2D-GENES) Consortium Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility Nat. Genet. 46 2014 234 244
46. A.R. Majithia, J. Flannick, P. Shahinian, M. Guo, M.-A. Bray, P. Fontanillas, S.B. Gabriel, E.D. Rosen, D. Altshuler GoT2D Consortium NHGRI JHS/FHS Allelic Spectrum Project SIGMA T2D Consortium T2D-GENES Consortium Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes Proc. Natl. Acad. Sci. USA 111 2014 13127 13132
47. L. Marullo, J.S. El-Sayed Moustafa, and I. Prokopenko Insights into the genetic susceptibility to type 2 diabetes from genome-wide association studies of glycaemic traits Curr. Diab. Rep. 14 2014 551
48. W. März, M. Nauck, M.M. Hoffmann, D. Nagel, B.O. Boehm, W. Koenig, D. Rothenbacher, and B.R. Winkelmann G(-30)A polymorphism in the pancreatic promoter of the glucokinase gene associated with angiographic coronary artery disease and type 2 diabetes mellitus Circulation 109 2004 2844 2849
49. G. Meur, A. Simon, N. Harun, M. Virally, A. Dechaume, A. Bonnefond, S. Fetita, A.I. Tarasov, P.-J. Guillausseau, and T.W. Boesgaard Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention Diabetes 59 2010 653 661
50. D. Meyre, N. Bouatia-Naji, A. Tounian, C. Samson, C. Lecoeur, V. Vatin, M. Ghoussaini, C. Wachter, S. Hercberg, and G. Charpentier Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes Nat. Genet. 37 2005 863 867
51. I. Moltke, N. Grarup, M.E. Jørgensen, P. Bjerregaard, J.T. Treebak, M. Fumagalli, T.S. Korneliussen, M.A. Andersen, T.S. Nielsen, and N.T. Krarup A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes Nature 512 2014 190 193
52. A.P. Morris, B.F. Voight, T.M. Teslovich, T. Ferreira, A.V. Segrè, V. Steinthorsdottir, R.J. Strawbridge, H. Khan, H. Grallert, A. Mahajan Wellcome Trust Case Control Consortium Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC) Investigators Genetic Investigation of ANthropometric Traits (GIANT) Consortium Asian Genetic Epidemiology Network-Type 2 Diabetes (AGEN-T2D) Consortium South Asian Type 2 Diabetes (SAT2D) Consortium DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes Nat. Genet. 44 2012 981 990
53. J.V. Neel Diabetes Mellitus - A Geneticist's Nightmare W. Creutzfeldt, J. Köbberling, J.V. Neel, The Genetics of Diabetes Mellitus 1976 Springer Berlin Heidelberg Berlin, Heidelberg 1 11
54. M.C.Y. Ng, D. Shriner, B.H. Chen, J. Li, W.-M. Chen, X. Guo, J. Liu, S.J. Bielinski, L.R. Yanek, M.A. Nalls FIND Consortium eMERGE Consortium DIAGRAM Consortium MuTHER Consortium MEta-analysis of type 2 DIabetes in African Americans Consortium Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes PLoS Genet. 10 2014 e1004517
55. M.A. Nobrega TCF7L2 and glucose metabolism: time to look beyond the pancreas Diabetes 62 2013 706 708
56. S.H. Ostoft, J.I. Bagger, T. Hansen, O. Pedersen, J.J. Holst, F.K. Knop, and T. Vilsbøll Incretin effect and glucagon responses to oral and intravenous glucose in patients with maturity-onset diabetes of the young - type 2 and type 3 Diabetes 63 2014 2838 2844
57. N.D. Palmer, C.W. McDonough, P.J. Hicks, B.H. Roh, M.R. Wing, S.S. An, J.M. Hester, J.N. Cooke, M.A. Bostrom, M.E. Rudock DIAGRAM Consortium MAGIC Investigators A genome-wide association search for type 2 diabetes genes in African Americans PLoS ONE 7 2012 e29202
58. L. Pasquali, K.J. Gaulton, S.A. Rodríguez-Seguí, L. Mularoni, I. Miguel-Escalada, I. Akerman, J.J. Tena, I. Morán, C. Gómez-Marín, and M. van de Bunt Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants Nat. Genet. 46 2014 136 143
59. E.R. Pearson, I. Flechtner, P.R. Njølstad, M.T. Malecki, S.E. Flanagan, B. Larkin, F.M. Ashcroft, I. Klimes, E. Codner, V. Iotova Neonatal Diabetes International Collaborative Group Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations N. Engl. J. Med. 355 2006 467 477
60. E.R. Pearson, L.A. Donnelly, C. Kimber, A. Whitley, A.S.F. Doney, M.I. McCarthy, A.T. Hattersley, A.D. Morris, and C.N.A. Palmer Variation in TCF7L2 influences therapeutic response to sulfonylureas: a GoDARTs study Diabetes 56 2007 2178 2182
61. J.R.B. Perry, B.F. Voight, L. Yengo, N. Amin, J. Dupuis, M. Ganser, H. Grallert, P. Navarro, M. Li, L. Qi MAGIC DIAGRAM Consortium GIANT Consortium Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases PLoS Genet. 8 2012 e1002741
62. J. Pirart [Treatment of fat diabetes; importance of strict diet & slimming treatment] Brux. Méd. 39 1959 751 765
63. P. Poulsen, K.O. Kyvik, A. Vaag, and H. Beck-Nielsen Heritability of type II (non-insulin-dependent) diabetes mellitus and abnormal glucose tolerance - a population-based twin study Diabetologia 42 1999 139 145
64. I. Prokopenko, C. Langenberg, J.C. Florez, R. Saxena, N. Soranzo, G. Thorleifsson, R.J.F. Loos, A.K. Manning, A.U. Jackson, and Y. Aulchenko Variants in MTNR1B influence fasting glucose levels Nat. Genet. 41 2009 77 81
65. L. Qi, M.C. Cornelis, P. Kraft, K.J. Stanya, W.H. Linda Kao, J.S. Pankow, J. Dupuis, J.C. Florez, C.S. Fox, G. Paré Meta-Analysis of Glucose and Insulin-related traits Consortium (MAGIC) Diabetes Genetics Replication and Meta-analysis (DIAGRAM) Consortium Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes Hum. Mol. Genet. 19 2010 2706 2715
66. A. Ragvin, E. Moro, D. Fredman, P. Navratilova, E. Drivenes, P.G. Engström, M.E. Alonso, E. de la Calle Mustienes, J.L. Gómez Skarmeta, and M.J. Tavares Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3 Proc. Natl. Acad. Sci. USA 107 2010 775 780
67. J.-P. Riveline, E. Rousseau, Y. Reznik, S. Fetita, J. Philippe, A. Dechaume, A. Hartemann, M. Polak, C. Petit, and G. Charpentier Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations Diabetes Care 35 2012 248 251
68. W. Rosamond, K. Flegal, K. Furie, A. Go, K. Greenlund, N. Haase, S.M. Hailpern, M. Ho, V. Howard, B. Kissela American Heart Association Statistics Committee and Stroke Statistics Subcommittee Heart disease and stroke statistics - 2008 update: a report from the American Heart Association Statistics Committee and Stroke Statistics Subcommittee Circulation 117 2008 e25 e146
69. J. Rung, S. Cauchi, A. Albrechtsen, L. Shen, G. Rocheleau, C. Cavalcanti-Proença, F. Bacot, B. Balkau, A. Belisle, and K. Borch-Johnsen Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia Nat. Genet. 41 2009 1110 1115
70. S. Saeed, T.A. Butt, M. Anwer, M. Arslan, and P. Froguel High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families Mol. Genet. Metab. 106 2012 121 126
71. M.S. Sandhu, M.N. Weedon, K.A. Fawcett, J. Wasson, S.L. Debenham, A. Daly, H. Lango, T.M. Frayling, R.J. Neumann, and R. Sherva Common variants in WFS1 confer risk of type 2 diabetes Nat. Genet. 39 2007 951 953
72. R. Saxena, B.F. Voight, V. Lyssenko, N.P. Burtt, P.I. de Bakker, H. Chen, J.J. Roix, S. Kathiresan, J.N. Hirschhorn, M.J. Daly Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes of BioMedical Research Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels Science 316 2007 1331 1336
73. R. Saxena, M.-F. Hivert, C. Langenberg, T. Tanaka, J.S. Pankow, P. Vollenweider, V. Lyssenko, N. Bouatia-Naji, J. Dupuis, A.U. Jackson GIANT consortium MAGIC investigators Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge Nat. Genet. 42 2010 142 148
74. R. Saxena, D. Saleheen, L.F. Been, M.L. Garavito, T. Braun, A. Bjonnes, R. Young, W.K. Ho, A. Rasheed, P. Frossard DIAGRAM MuTHER AGEN Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India Diabetes 62 2013 1746 1755
75. L.J. Scott, K.L. Mohlke, L.L. Bonnycastle, C.J. Willer, Y. Li, W.L. Duren, M.R. Erdos, H.M. Stringham, P.S. Chines, and A.U. Jackson A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants Science 316 2007 1341 1345
76. A. Scuteri, S. Sanna, W.-M. Chen, M. Uda, G. Albai, J. Strait, S. Najjar, R. Nagaraja, M. Orrú, and G. Usala Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits PLoS Genet. 3 2007 e115
77. W. Shao, D. Wang, Y.-T. Chiang, W. Ip, L. Zhu, F. Xu, J. Columbus, D.D. Belsham, D.M. Irwin, and H. Zhang The Wnt signaling pathway effector TCF7L2 controls gut and brain proglucagon gene expression and glucose homeostasis Diabetes 62 2013 789 800
78. M. Shepherd, E.R. Pearson, J. Houghton, G. Salt, S. Ellard, and A.T. Hattersley No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas Diabetes Care 26 2003 3191 3192
79. B.M. Shields, S. Hicks, M.H. Shepherd, K. Colclough, A.T. Hattersley, and S. Ellard Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 53 2010 2504 2508
80. X.O. Shu, J. Long, Q. Cai, L. Qi, Y.-B. Xiang, Y.S. Cho, E.S. Tai, X. Li, X. Lin, and W.-H. Chow Identification of new genetic risk variants for type 2 diabetes PLoS Genet. 6 2010 e1001127
81. K. Silander, K.L. Mohlke, L.J. Scott, E.C. Peck, P. Hollstein, A.D. Skol, A.U. Jackson, P. Deloukas, S. Hunt, and G. Stavrides Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes Diabetes 53 2004 1141 1149
82. R. Sladek, G. Rocheleau, J. Rung, C. Dina, L. Shen, D. Serre, P. Boutin, D. Vincent, A. Belisle, and S. Hadjadj A genome-wide association study identifies novel risk loci for type 2 diabetes Nature 445 2007 881 885
83. S. Smemo, J.J. Tena, K.-H. Kim, E.R. Gamazon, N.J. Sakabe, C. Gómez-Marín, I. Aneas, F.L. Credidio, D.R. Sobreira, and N.F. Wasserman Obesity-associated variants within FTO form long-range functional connections with IRX3 Nature 507 2014 371 375
84. V. Steinthorsdottir, G. Thorleifsson, P. Sulem, H. Helgason, N. Grarup, A. Sigurdsson, H.T. Helgadottir, H. Johannsdottir, O.T. Magnusson, and S.A. Gudjonsson Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes Nat. Genet. 46 2014 294 298
85. L.M. Stone, S.E. Kahn, W.Y. Fujimoto, S.S. Deeb, and D. Porte Jr. A variation at position -30 of the beta-cell glucokinase gene promoter is associated with reduced beta-cell function in middle-aged Japanese-American men Diabetes 45 1996 422 428
86. R. Tabassum, G. Chauhan, O.P. Dwivedi, A. Mahajan, A. Jaiswal, I. Kaur, K. Bandesh, T. Singh, B.J. Mathai, Y. Pandey DIAGRAM INDICO Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21 Diabetes 62 2013 977 986
87. F.-J. Tsai, C.-F. Yang, C.-C. Chen, L.-M. Chuang, C.-H. Lu, C.-T. Chang, T.-Y. Wang, R.-H. Chen, C.-F. Shiu, and Y.-M. Liu A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese PLoS Genet. 6 2010 e1000847
88. H. Unoki, A. Takahashi, T. Kawaguchi, K. Hara, M. Horikoshi, G. Andersen, D.P.K. Ng, J. Holmkvist, K. Borch-Johnsen, and T. Jørgensen SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations Nat. Genet. 40 2008 1098 1102
89. J.L. Vassy, M.-F. Hivert, B. Porneala, M. Dauriz, J.C. Florez, J. Dupuis, D.S. Siscovick, M. Fornage, L.J. Rasmussen-Torvik, C. Bouchard, and J.B. Meigs Polygenic type 2 diabetes prediction at the limit of common variant detection Diabetes 63 2014 2172 2182
90. M. Vaxillaire, V. Boccio, A. Philippi, C. Vigouroux, J. Terwilliger, P. Passa, J.S. Beckmann, G. Velho, G.M. Lathrop, and P. Froguel A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q Nat. Genet. 9 1995 418 423
91. M. Vaxillaire, A. Bonnefond, and P. Froguel The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis Best Pract. Res. Clin. Endocrinol. Metab. 26 2012 171 187
92. M. Vaxillaire, L. Yengo, S. Lobbens, G. Rocheleau, E. Eury, O. Lantieri, M. Marre, B. Balkau, A. Bonnefond, and P. Froguel Type 2 diabetes-related genetic risk scores associated with variations in fasting plasma glucose and development of impaired glucose homeostasis in the prospective DESIR study Diabetologia 57 2014 1601 1610
93. Vftter, K. (1986). Diabetes mellitus. WHO Technical Report Series 727. 113 Seiten. World Health Organization, Geneva 1985. Preis: 9.00 Sw. fr. Nahrung, 30, 700. http://dx.doi.org/10.1002/food.19860300713.
94. N. Vionnet, E.H. Hani, S. Dupont, S. Gallina, S. Francke, S. Dotte, F. De Matos, E. Durand, F. Leprêtre, and C. Lecoeur Genomewide search for type 2 diabetes-susceptibility genes in French whites: evidence for a novel susceptibility locus for early-onset diabetes on chromosome 3q27-qter and independent replication of a type 2-diabetes locus on chromosome 1q21-q24 Am. J. Hum. Genet. 67 2000 1470 1480
95. B.F. Voight, L.J. Scott, V. Steinthorsdottir, A.P. Morris, C. Dina, R.P. Welch, E. Zeggini, C. Huth, Y.S. Aulchenko, G. Thorleifsson MAGIC investigators GIANT Consortium Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis Nat. Genet. 42 2010 579 589
96. B.F. Voight, H.M. Kang, J. Ding, C.D. Palmer, C. Sidore, P.S. Chines, N.P. Burtt, C. Fuchsberger, Y. Li, and J. Erdmann The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits PLoS Genet. 8 2012 e1002793
97. G.A. Walford, B.C. Porneala, M. Dauriz, J.L. Vassy, S. Cheng, E.P. Rhee, T.J. Wang, J.B. Meigs, R.E. Gerszten, and J.C. Florez Metabolite traits and genetic risk provide complementary information for the prediction of future type 2 diabetes Diabetes Care 37 2014 2508 2514
98. R.G. Walters, S. Jacquemont, A. Valsesia, A.J. de Smith, D. Martinet, J. Andersson, M. Falchi, F. Chen, J. Andrieux, and S. Lobbens A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 Nature 463 2010 671 675
99. A.L. Williams, S.B. Jacobs, H. Moreno-Macías, A. Huerta-Chagoya, C. Churchhouse, C. Márquez-Luna, H. García-Ortíz, M.J. Gómez-Vázquez, N.P. Burtt, C.A. Aguilar-Salinas SIGMA Type 2 Diabetes Consortium Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico Nature 506 2014 97 101
100. W. Winckler, M.N. Weedon, R.R. Graham, S.A. McCarroll, S. Purcell, P. Almgren, T. Tuomi, D. Gaudet, K.B. Boström, and M. Walker Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes Diabetes 56 2007 685 693
101. World Health Organization (2013). http://www.who.int/mediacentre/factsheets/fs312/. Fact sheet N°312.
102. T. Yamauchi, K. Hara, S. Maeda, K. Yasuda, A. Takahashi, M. Horikoshi, M. Nakamura, H. Fujita, N. Grarup, and S. Cauchi A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B Nat. Genet. 42 2010 864 868
103. K. Yasuda, K. Miyake, Y. Horikawa, K. Hara, H. Osawa, H. Furuta, Y. Hirota, H. Mori, A. Jonsson, and Y. Sato Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus Nat. Genet. 40 2008 1092 1097
104. E. Zeggini, M.N. Weedon, C.M. Lindgren, T.M. Frayling, K.S. Elliott, H. Lango, N.J. Timpson, J.R.B. Perry, N.W. Rayner, R.M. Freathy Wellcome Trust Case Control Consortium (WTCCC) Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes Science 316 2007 1336 1341
105. E. Zeggini, L.J. Scott, R. Saxena, B.F. Voight, J.L. Marchini, T. Hu, P.I.W. de Bakker, G.R. Abecasis, P. Almgren, G. Andersen Wellcome Trust Case Control Consortium Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes Nat. Genet. 40 2008 638 645
106. Y. Zhou, S.-Y. Park, J. Su, K. Bailey, E. Ottosson-Laakso, L. Shcherbina, N. Oskolkov, E. Zhang, T. Thevenin, and J. Fadista TCF7L2 is a master regulator of insulin production and processing Hum. Mol. Genet. 23 2014 6419 6431
107. P. Zimmet Type 2 (non-insulin-dependent) diabetes - an epidemiological overview Diabetologia 22 1982 399 411