• 1
    Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP et al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet 2010; 42: 579589.
  • 2
    Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet 2010; 42: 105116.
  • 3
    Perry JR, Frayling TM. New gene variants alter type 2 diabetes risk predominantly through reduced beta-cell function. Curr Opin Clin Nutr Metab Care 2008; 11: 371377.
  • 4
    Fawcett KA, Wheeler E, Morris AP, Ricketts SL, Hallmans G, Rolandsson O et al. Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk. Diabetes 2010; 59: 741746.
  • 5
    Jafar-Mohammadi B, Groves CJ, Owen KR, Frayling TM, Hattersley AT, McCarthy MI et al. Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes. PLoS One 2009; 4: e6615.
  • 6
    Nejentsev S, Walker N, Riches D, Egholm M, Todd JA. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 2009; 324: 387389.
  • 7
    Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn’s disease. Nature 2001; 411: 603606.
  • 8
    Romeo S, Pennacchio LA, Fu Y, Boerwinkle E, Tybjaerg-Hansen A, Hobbs HH et al. Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat Genet 2007; 39: 513516.
  • 9
    Ji W, Foo JN, O’Roak BJ, Zhao H, Larson MG, Simon DB et al. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 2008; 40: 592599.
  • 10
    Jonsson J, Carlsson L, Edlund T, Edlund H. Insulin-promoter-factor 1 is required for pancreas development in mice. Nature 1994; 371: 606609.
  • 11
    Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Gen 1997; 15: 106110.
  • 12
    Schwitzgebel VM, Mamin A, Brun T, Ritz-Laser B, Zaiko M, Maret A et al. Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. J Clin Endocrinol Metab 2003; 88: 43984406.
  • 13
    Elbein SC, Karim MA. Does the aspartic acid to asparagine substitution at position 76 in the pancreas duodenum homeobox gene (PDX1) cause late-onset type 2 diabetes? Diabetes Care 2004; 27: 19681973.
  • 14
    Gragnoli C, Stanojevic V, Gorini A, Von Preussenthal GM, Thomas MK, Habener JF. IPF-1/MODY4 gene missense mutation in an Italian family with type 2 and gestational diabetes. Metabolism 2005; 54: 983988.
  • 15
    Weng J, MacFarlane W, Lehto M, Gu H, Shepherd L, Ivarsson S et al. Functional consequences of mutations in the MODY4 gene (IPF-1) and co-existence with MODY3 mutation. Diabetologia 2001; 44: 249258.
  • 16
    Hani EH, Stoffers DA, Chevre JC, Durand E, Stanojevic V, Dina C et al. Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. J Clin Invest 1999; 104: R41R48.
  • 17
    Macfarlane W, Frayling T, Ellard S, Evans J, Allen L, Bulman M et al. Missense mutations in the insulin promoter factor 1 (IPF-1) gene predispose to Type 2 diabetes. J Clin Invest 1999; 104: R33R39.
  • 18
    Owen KR, Evans JC, Frayling TM, Hattersley AT, McCarthy MI, Walker M et al. Role of the D76N polymorphism of insulin promoter factor-1 in predisposing to Type 2 diabetes. Diabetologia 2004; 47: 957958.
  • 19
    Gragnoli C, Cronsell J. Meta-analysis of the IPF1 D76N polymorphism in a worldwide type 2 diabetes population. Minerva Med 2007; 98: 163166.