Insights on pathogenesis of type 2 diabetes from MODY genetics

Current Diabetes Reports

Volumn 7, Issue 2, 2007, Pages 131-138

  Weedon, Michael N ^a   Frayling, Timothy M ^b  

^a PENINSULA MEDICAL SCHOOL   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOKINASE; GLUCOSE; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 1BETA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INSULIN; NEUROGENIC DIFFERENTIATION FACTOR; ORAL ANTIDIABETIC AGENT; TRANSCRIPTION FACTOR PDX 1;

AMINO ACID SUBSTITUTION; AUTOSOMAL DOMINANT INHERITANCE; DIABETOGENESIS; DIET THERAPY; GENE FREQUENCY; GENE FUNCTION; GENE INTERACTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GLUCOSE BLOOD LEVEL; HERITABILITY; HUMAN; HYPERGLYCEMIA; INSULIN RELEASE; MATURITY ONSET DIABETES MELLITUS; NON INSULIN DEPENDENT DIABETES MELLITUS; PANCREAS ISLET BETA CELL; PREVALENCE; REVIEW; RISK FACTOR;

BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; DIABETES MELLITUS, TYPE 1; DIABETES MELLITUS, TYPE 2; GLUCOKINASE; HEPATOCYTE NUCLEAR FACTORS; HOMEODOMAIN PROTEINS; HUMANS; NERVE TISSUE PROTEINS; TRANS-ACTIVATORS;

EID: 34248374815     PISSN: 15344827     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11892-007-0022-6     Document Type: Review

References (70)

1. Owen K, Hattersley AT: Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization. Best Pract Res Clin Endocrinol Metab 2001, 15:309-323.
2. Hattersley AT, Turner RC, Permutt MA, et al.: Linkage of type 2 diabetes to the glucokinase gene. Lancet 1992, 339:1307-1310.
3. Vionnet N, Stoffel M, Takeda J, et al.: Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature 1992, 356:721-722.
4. Froguel P, Vaxillaire M, Sun F, et al.: Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Nature 1992, 356:162-164.
5. Yamagata K, Oda N, Kaisaki PJ, et al.: Mutations in the hepatic nuclear factor 1 alpha gene in maturity-onset diabetes of the young (MODY3). Nature 1996, 384:455-458.
6. Yamagata K, Furuta H, Oda N, et al.: Mutations in the hepatocyte nuclear factor 4 alpha gene in maturity-onset diabetes of the young (MODY1). Nature 1996, 384:458-460.
7. Horikawa Y, Iwasaki N, Hara M, et al.: Mutation in hepatocyte nuclear factor-1b gene (TCF2) associated with MODY. Nat Genet 1997, 17, 384-385.
8. Stoffers DA, Ferrer J, Clarke WL, Habener JF: Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nat Genet 1997, 17:138-139.
9. Malecki MT, Jhala US, Antonellis A, et al.: Mutations in NEUROD1 are associated with the development of Type 2 diabetes mellitus. Nat Genet 1999, 23:323-328.
10. Stride A, Hattersley AT: Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Ann Med 2002, 34:207-216.
11. Pearson ER, Starkey BJ, Powell RJ, et al.: Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet 2003, 362:1275-1281.
12. Gloyn A, McCarthy M: The genetics of type 2 diabetes. Best Pract Res Clin Endocrinol Metab 2001, 15:293-308.
13. Weedon MN, McCarthy MI, Hitman G, et al.: Combining information from common type 2 diabetes risk polymorphisms improves disease prediction. PLoS Med 2006, 3:e374.
14. Barroso I, Gurnell M, Crowley VE, et al.: Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension. Nature 1999, 402:880-883.
15. Altshuler D, Hirschhorn JN, Klannemark M, et al.: The common PPARg Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 2000, 26:76-80.
16. Thomas PM, Yuyang Y, Lightner E: Mutation of the pancreatic islet inward rectifier, Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet 1996, 5:1809-1812.
17. Gloyn AL, Pearson ER, Antcliff JF, et al.: Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004, 350:1838-1849.
18. Florez JC, Burtt N, de Bakker PI, et al.: Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes 2004, 53:1360-1368.
19. Odom DT, Zizlsperger N, Gordon DB, et al.: Control of pancreas and liver gene expression by HNF transcription factors. Science 2004, 303:1378-1381.
20. Byrne MM, Sturis J, Menzel S, et al.: Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on Chromosome 12. Diabetes 1996, 45:1503-1510.
21. Ellard S, Colclough K: Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum Mutat 2006, 27:854-869.
22. Hegele RA, Zinman B, Hanley AJ, et al.: Genes, environment and Oji-Cree type 2 diabetes. Clin Biochem 2003, 36:163-170.
23. Hegele RA, Cao H, Harris SB, et al.: The hepatic nuclear factor-1alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree. J Clin Endocrinol Metab 1999, 84:1077-1082.
24. Triggs-Raine BL, Kirkpatrick RD, Kelly SL, et al.: HNF-1alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community. Proc Natl Acad Sci U S A 2002, 99:4614-4619.
25. Mahtani MM, Widen E, Lehto M, et al.: Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families. Nat Genet 1996, 14:90-94.
26. McCarthy MI: Growing evidence for diabetes susceptibility genes from genome scan data. Curr Diab Rep 2003, 3:159-167.
27. Reynisdottir I, Thorleifsson G, Benediktsson R, et al.: Localization of a susceptibility gene for type 2 diabetes to chromosome 5q34-q35.2. Am J Hum Genet 2003, 73:323-335.
28. Urhammer SA, Rasmussen SK, Kaisaki PJ, et al.: Genetic variation in the hepatocyte nuclear factor-1a gene in Danish Caucasians with late onset NIDDM. Diabetologia 1997, 40:473-475.
29. Weedon MN, Owen KR, Shields B, et al.: A large-scale association analysis of common variation of the HNF1alpha gene with type 2 diabetes in the U.K. Caucasian population. Diabetes 2005, 54:2487-2491.
30. Winckler W, Burtt NP, Holmkvist J, et al.: Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes. Diabetes 2005, 54:2336-2342.
31. Bonnycastle LL, Wilier CJ, Conneely KN, et al.: Common variants in maturity-onset diabetes of the young genes contribute to risk of type 2 diabetes in Finns. Diabetes 2006, 55:2534-2540.
32. International HapMap Consortium: A haplotype map of the human genome. Nature 2005, 437:1299-1320.
33. Pearson ER, Pruhova S, Tack CJ, et al.: Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. Diabetologia 2005, 48:878-885.
34. Mohlke KL, Boehnke M: The role of HNF4A variants in the risk of type 2 diabetes. Curr Diab Rep 2005, 5:149-156.
35. Love-Gregory LD, Wasson J, Ma J, et al.: A Common polymorphism in the upstream promoter region of the hepatocyte nuclear factor-4alpha gene on chromosome 20q is associated with type 2 diabetes and appears to contribute to the evidence for linkage in an Ashkenazi Jewish population. Diabetes 2004, 53:1134-1140.
36. Silander K, Mohlke KL, Scott LJ, et al.: Genetic variation near the hepatocyte nuclear factor-4alpha gene predicts susceptibility to type 2 diabetes. Diabetes 2004, 53:1141-1149.
37. Thomas H, Jaschkowitz K, Bulman M, et al.: A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. Hum Mol Genet 2001, 10:2089-2097.
38. Hansen SK, Parrizas M, Jensen ML, et al.: Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function. J Clin Invest 2002, 110:827-833.
39. Raeder H, Bjorkhaug L, Johansson S, et al.: A hepatocyte nuclear factor-4{alpha} gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes: studies of HNF4A variants in the Norwegian MODY registry. Diabetes 2006, 55:1899-1903.
40. Hara K, Horikoshi M, Kitazato H, et al.: Hepatocyte nuclear factor-4alpha P2 promoter haplotypes are associated with type 2 diabetes in the Japanese population. Diabetes 2006, 55:1260-1264.
41. Muller YL, Infante AM, Hanson RL, et al.: Variants in hepatocyte nuclear factor 4alpha are modestly associated with type 2 diabetes in Pima Indians. Diabetes 2005, 54:3035-3039.
42. Hansen SK, Rose CS, Glumer C, et al.: Variation near the hepatocyte nuclear factor (HNF)-4alpha gene associates with type 2 diabetes in the Danish population. Diabetologia 2005, 48:452-458.
43. Winckler W, Graham RR, de Bakker PI, et al.: Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people. Diabetes 2005, 54:886-892.
44. Weedon M, Owen K, Shields B, et al.: Common variants of the HNF4alpha P2 promoter are associated with type 2 diabetes in the UK population. Diabetes 2004, 53:3002-3006.
45. Matschinsky F, Liang Y, Kesavan P, et al.: Glucokinase as pancreatic beta cell glucose sensor and diabetes gene. J Clin Invest 1993, 92:2092-2098.
46. Stride A, Vaxillaire M, Tuomi T, et al.: The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia 2002, 45:427-435.
47. Frayling TM, Evans JC, Bulman MP, et al.: beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. Diabetes 2001, 50: S94-S100.
48. Weedon MN, Frayling TM, Shields B, et al.: Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene. Diabetes 2005, 54:576-581.
49. Rose CS, Ek J, Urhammer SA, et al.: A-30G>A polymorphism of the beta-cell-specific glucokinase promoter associates with hyperglycemia in the general population of whites. Diabetes 2005, 54:3026-3031.
50. Marz W, Nauck M, Hoffmann MM, et al.: G(-30)A polymorphism in the pancreatic promoter of the glucokinase gene associated with angiographic coronary artery disease and type 2 diabetes mellitus. Circulation 2004, 109:2844-2849.
51. Weedon MN, Clark VJ, Qian Y, et al.: A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses. Am J Hum Genet 2006, 79:991-1001.
52. Pearson ER, Badman MK, Lockwood CR, et al.: Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations. Diabetes Care 2004, 27:1102-1107.
53. Ek J, Grarup N, Urhammer SA, et al.: Studies of the variability of the hepatocyte nuclear factor-1beta (HNF-1beta / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and beta-cell function. Hum Mutat 2001, 18:356-357.
54. Babaya N, Ikegami H, Kawaguchi Y, et al.: Hepatocyte nuclear factor-1alpha gene and non-insulin-dependent diabetes mellitus in the Japanese population. Acta Diabetol 1998, 35:150-153.
55. Macfarlane WM, Smith SB, James RFL, et al.: The p38/reactiviating kinase mitogen activated protein kinase cascade mediates the activation of the transcription factor IUF1 and insulin gene transcription by high glucose in pancreatic beta-cells. J Biol Chem 1997, 272:20936-20944.
56. Macfarlane WM, McKinnon CM, Felton-Edkins ZA, et al.: Glucose stimulates translocation of the homeodomain transcription factor PDX1 from the cytoplasm to the nucleus in pancreatic beta-cells. J Biol Chem 1999, 274:1011-1016.
57. Stoffers DA, Zinkin NT, Stanojevic V, et al.: Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet 1997, 15:106-110.
58. Macfarlane W, Frayling T, Ellard S, et al.: Missense mutations in the insulin promoter factor 1 (IPF-1) gene predispose to type 2 diabetes. J Clin Invest 1999, 104: R33-R39.
59. Hani EH, Stoffers DA, Chevre JC, 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: R41-R48.
60. Weng J, Macfarlane WM, Lehto M, et al.: Functional consequences of mutations in the MODY4 gene (IPF1) and coexistence with MODY3 mutations. Diabetologia 2001, 44:249-258.
61. Silver K, Shetty A: IPF-1 gene variation and the development of type 2 diabetes. Mol Genet Metab 2002, 75:287-289.
62. Reis AF, Ye WZ, Dubois-Laforgue D, et al.: Mutations in the insulin promoter factor-1 gene in late-onset type 2 diabetes mellitus. Eur J Endocrinol 2000, 143:511-513.
63. Hansen L, Urioste S, Petersen HV, et al.: Missense mutations in the human insulin promoter factor-1 gene and their relation to maturity-onset diabetes of the young and late-onset type 2 diabetes mellitus in Caucasians. J Clin Endocrinol Metab 2000, 85:1323-1326.
64. Shiau MY, Huang CN, Liao JH, Chang YH: Missense mutations in the human insulin promoter factor-1 gene are not a common cause of type 2 diabetes meltitus in Taiwan. J Endocrinol Invest 2004, 27:1076-1080.
65. 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, 27:1968-1973.
66. Owen KR, Evans JC, Frayling TM, et al.: Role of the D76N polymorphism of insulin promoter factor-1 in predisposing to Type 2 diabetes. Diabetologia 2004, 47:957-958.
67. Kristinsson SY, Thorolfsdottir ET, Talseth B, et al.: MODY in Iceland is associated with mutations in HNF-1alpha and a novel mutation in NeuroD1. Diabetologia 2001, 44:2098-2103.
68. Vella A, Howson JM, Barratt BJ, et al.: Lack of association of the Ala(45)Thr polymorphism and other common variants of the NeuroD gene with type 1 diabetes. Diabetes 2004, 53:1158-1161.
69. Kyvvoura FK, Ioannidis JP: Ata45Thr polymorphism of the NEUROD1 gene and diabetes susceptibility: a meta-analysis. Hum Genet 2005, 116:192-199.
70. Weedon MN, Hattersley AT, Frayling TM: Transcription factor genes in type 2 diabetes. In New Transcription Factors and Their Role in Diabetes and Its Therapy, vol 5, edn 1. Edited by Friedman JE. Netherlands: Elsevier; 2006:1-14.