Interactions between genetic background, insulin resistance and β-cell function

Diabetes, Obesity and Metabolism

Volumn 14, Issue SUPPL.3, 2012, Pages 46-56

  Kahn, S E ^a,b   Suvag, S ^a,b   Wright, L A ^a,b   Utzschneider, K M ^a,b  

^a VA PUGET SOUND HEALTH CARE SYSTEM   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

Author keywords

ABCC8; Glucokinase; Incretins; Insulin secretion; Insulin sensitivity; Islet; KCNJ11; Proinsulin; SLC30A8; TCF7L2; Zinc

Indexed keywords

GLUCOKINASE; GLUCOSE; INSULIN RECEPTOR SUBSTRATE 1; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; MEMBRANE PROTEIN; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA 2; SULPHONYLUREA RECEPTOR 1; TRANSCRIPTION FACTOR 7 LIKE 2; UNCLASSIFIED DRUG; ZINC TRANSPORTER; ZINC TRANSPORTER 8;

B LYMPHOCYTE; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE ENVIRONMENT INTERACTION; GLUCOSE METABOLISM; HUMAN; HYPERGLYCEMIA; INSULIN RESISTANCE; INSULIN SENSITIVITY; LYMPHOCYTE FUNCTION; NON INSULIN DEPENDENT DIABETES MELLITUS; OBESITY; PATHOPHYSIOLOGY; REVIEW; RISK ASSESSMENT; SECRETORY GRANULE;

EID: 84865575650     PISSN: 14628902     EISSN: 14631326     Source Type: Journal    
DOI: 10.1111/j.1463-1326.2012.01650.x     Document Type: Review

References (74)

1. Kahn SE. The relative contributions of insulin resistance and beta-cell dysfunction to the pathophysiology of type 2 diabetes. Diabetologia 2003; 46: 3-19.
2. Florez JC. Newly identified loci highlight beta cell dysfunction as a key cause of type 2 diabetes: where are the insulin resistance genes? Diabetologia 2008; 51: 1100-1110.
3. McCarthy MI. Genomics, type 2 diabetes, and obesity. N Engl J Med 2010; 363: 2339-2350.
4. Morton GJ, Cummings DE, Baskin DG, Barsh GS, Schwartz MW. Central nervous system control of food intake and body weight. Nature 2006; 443: 289-295.
5. Lam TK, Schwartz GJ, Rossetti L. Hypothalamic sensing of fatty acids. Nat Neurosci 2005; 8: 579-584.
6. Drucker DJ. The biology of incretin hormones. Cell Metab 2006; 3: 153-165.
7. Kahn SE, Hull RL, Utzschneider KM. Mechanisms linking obesity to insulin resistance and type 2 diabetes. Nature 2006; 444: 840-846.
8. Kahn SE, Prigeon RL, McCulloch DK et al. Quantification of the relationship between insulin sensitivity and β-cell function in human subjects. Evidence for a hyperbolic function. Diabetes 1993; 42: 1663-1672.
9. Utzschneider KM, Prigeon RL, Faulenbach MV et al. Oral disposition index predicts the development of future diabetes above and beyond fasting and 2-h glucose levels. Diabetes Care 2009; 32: 335-341.
10. Jensen CC, Cnop M, Hull RL, Fujimoto WY, Kahn SE, American Diabetes Association GENNID Study Group. β-cell function is the major determinant of oral glucose tolerance in four ethnic groups in the United States. Diabetes 2002; 51: 2170-2178.
11. Pratley RE, Weyer C. The role of impaired early insulin secretion in the pathogenesis of Type II diabetes mellitus. Diabetologia 2001; 44: 929-945.
12. Stancakova A, Javorsky M, Kuulasmaa T, Haffner SM, Kuusisto J, Laakso M. Changes in insulin sensitivity and insulin release in relation to glycemia and glucose tolerance in 6, 414 Finnish men. Diabetes 2009; 58: 1212-1221.
13. The Diabetes Prevention Program Research Group. Role of insulin secretion and sensitivity in the evolution of type 2 diabetes in the Diabetes Prevention Program: effects of lifestyle intervention and metformin. Diabetes 2005; 54: 2404-2414.
14. Kahn SE, Lachin JM, Zinman B et al. Effects of rosiglitazone, glyburide and metformin on β-cell function and insulin sensitivity in ADOPT. Diabetes 2011; 60: 1552-1560.
15. Elbein SC, Hasstedt SJ, Wegner K, Kahn SE. Heritability of pancreatic beta-cell function among nondiabetic members of Caucasian familial type 2 diabetic kindreds. J Clin Endocrinol Metab 1999; 84: 1398-1403.
16. Bergman RN, Zaccaro DJ, Watanabe RM et al. Minimal model-based insulin sensitivity has greater heritability and a different genetic basis than homeostasis model assessment or fasting insulin. Diabetes 2003; 52: 2168-2174.
17. Cnop M, Vidal J, Hull RL et al. Progressive loss of β-cell function leads to worsening glucose tolerance in first-degree relatives of subjects with type 2 diabetes. Diabetes Care 2007; 30: 677-682.
18. Waters KM, Stram DO, Hassanein MT et al. Consistent association of type 2 diabetes risk variants found in Europeans in diverse racial and ethnic groups. PLoS Genet 2010; 6: e1001078.
19. Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 2001; 345: 971-980.
20. Meigs JB, Shrader P, Sullivan LM et al. Genotype score in addition to common risk factors for prediction of type 2 diabetes. N Engl J Med 2008; 359: 2208-2219.
21. Lyssenko V, Jonsson A, Almgren P et al. Clinical risk factors, DNA variants, and the development of type 2 diabetes. N Engl J Med 2008; 359: 2220-2232.
22. de Miguel-Yanes JM, Shrader P, Pencina MJ et al. Genetic risk reclassification for type 2 diabetes by age below or above 50years using 40 type 2 diabetes risk single nucleotide polymorphisms. Diabetes Care 2011; 34: 121-125.
23. Deeb SS, Fajas L, Nemoto M et al. A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity. Nat Genet 1998; 20: 284-287.
24. Diabetes Genetics Initiative of Broad Institute of Harvard and MIT Lund University and Novartis Institutes for BioMedical Research. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 2007; 316: 1331-1336.
25. Zeggini E, Weedon MN, Lindgren CM et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 2007; 316: 1336-1341.
26. Scott LJ, Mohlke KL, Bonnycastle LL et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 2007; 316: 1341-1345.
27. Rung J, Cauchi S, Albrechtsen A et al. Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. Nat Genet 2009; 41: 1110-1115.
28. Kulkarni RN, Bruning JC, Winnay JN, Postic C, Magnuson MA, Kahn CR. Tissue-specific knockout of the insulin receptor in pancreatic beta cells creates an insulin secretory defect similar to that in type 2 diabetes. Cell 1999; 96: 329-339.
29. Dupuis J, Langenberg C, Prokopenko I et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet 2010; 42: 105-116.
30. Frayling TM, Timpson NJ, Weedon MN et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 2007; 316: 889-894.
31. Hertel JK, Johansson S, Sonestedt E et al. FTO, type 2 diabetes, and weight gain throughout adult life: a meta-analysis of 41, 504 subjects from the Scandinavian HUNT, MDC, and MPP studies. Diabetes 2011; 60: 1637-1644.
32. Wardle J, Carnell S, Haworth CM, Farooqi IS, O'Rahilly S, Plomin R. Obesity associated genetic variation in FTO is associated with diminished satiety. J Clin Endocrinol Metab 2008; 93: 3640-3643.
33. Cecil JE, Tavendale R, Watt P, Hetherington MM, Palmer CN. An obesity-associated FTO gene variant and increased energy intake in children. N Engl J Med 2008; 359: 2558-2566.
34. Gerken T, Girard CA, Tung YC et al. The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase. Science 2007; 318: 1469-1472.
35. Ingelsson E, Langenberg C, Hivert MF et al. Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans. Diabetes 2010; 59: 1266-1275.
36. Strawbridge RJ, Dupuis J, Prokopenko I et al. Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. Diabetes 2011; 60: 2624-2634.
37. Lyssenko V, Lupi R, Marchetti P et al. Mechanisms by which common variants in the TCF7L2 gene increase risk of type 2 diabetes. J Clin Invest 2007; 117: 2155-2163.
38. Schafer SA, Tschritter O, Machicao F et al. Impaired glucagon-like peptide-1-induced insulin secretion in carriers of transcription factor 7-like 2 (TCF7L2) gene polymorphisms. Diabetologia 2007; 50: 2443-2450.
39. Villareal DT, Robertson H, Bell GI et al. TCF7L2 variant rs7903146 affects the risk of type 2 diabetes by modulating incretin action. Diabetes 2010; 59: 479-485.
40. Jurgens CA, Toukatly MN, Fligner CL et al. β-cell loss and β-cell apoptosis in human type 2 diabetes are related to islet amyloid deposition. Am J Pathol 2011; 178: 2632-2640.
41. Feigerlova E, Pruhova S, Dittertova L et al. Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents. Eur J Pediatr 2006; 165: 446-452.
42. Gloyn AL, van de Bunt M, Stratton IM et al. Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia. Diabetologia 2009; 52: 172-174.
43. 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.
44. Stone LM, Kahn SE, Fujimoto WY, Deeb SS, Porte D 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 1996; 45: 422-428.
45. Meininger GE, Scott R, Alba M et al. Effects of MK-0941, a novel glucokinase activator, on glycemic control in insulin-treated patients with type 2 diabetes. Diabetes Care 2011; 34: 2560-2566.
46. Loder MK, da Silva Xavier G, McDonald A, Rutter GA. TCF7L2 controls insulin gene expression and insulin secretion in mature pancreatic beta-cells. Biochem Soc Trans 2008; 36: 357-359.
47. Yi F, Brubaker PL, Jin T. TCF-4 mediates cell type-specific regulation of proglucagon gene expression by beta-catenin and glycogen synthase kinase-3beta. J Biol Chem 2005; 280: 1457-1464.
48. Loos RJ, Franks PW, Francis RW et al. TCF7L2 polymorphisms modulate proinsulin levels and β-cell function in a British Europid population. Diabetes 2007; 56: 1943-1947.
49. Rulifson IC, Karnik SK, Heiser PW et al. Wnt signaling regulates pancreatic beta cell proliferation. Proc Natl Acad Sci U S A 2007; 104: 6247-6252.
50. Florez JC, Jablonski KA, Bayley N et al. TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program. N Engl J Med 2006; 355: 241-250.
51. Pearson ER, Donnelly LA, Kimber C et al. Variation in TCF7L2 influences therapeutic response to sulfonylureas: a GoDARTs study. Diabetes 2007; 56: 2178-2182.
52. Wang J, Kuusisto J, Vanttinen M et al. Variants of transcription factor 7-like 2 (TCF7L2) gene predict conversion to type 2 diabetes in the Finnish Diabetes Prevention Study and are associated with impaired glucose regulation and impaired insulin secretion. Diabetologia 2007; 50: 1192-1200.
53. Sladek R, Rocheleau G, Rung J et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 2007; 445: 881-885.
54. Chimienti F, Devergnas S, Pattou F et al. In vivo expression and functional characterization of the zinc transporter ZnT8 in glucose-induced insulin secretion. J Cell Sci 2006; 119: 4199-4206.
55. Nicolson TJ, Bellomo EA, Wijesekara N et al. Insulin storage and glucose homeostasis in mice null for the granule zinc transporter ZnT8 and studies of the type 2 diabetes-associated variants. Diabetes 2009; 58: 2070-2083.
56. Pound LD, Sarkar SA, Benninger RK et al. Deletion of the mouse Slc30a8 gene encoding zinc transporter-8 results in impaired insulin secretion. Biochem J 2009; 421: 371-376.
57. Wijesekara N, Dai FF, Hardy AB et al. Beta cell-specific Znt8 deletion in mice causes marked defects in insulin processing, crystallisation and secretion. Diabetologia 2010; 53: 1656-1668.
58. Staiger H, Machicao F, Stefan N et al. Polymorphisms within novel risk loci for type 2 diabetes determine beta-cell function. PLoS ONE 2007; 2: e832.
59. Wenzlau JM, Juhl K, Yu L et al. The cation efflux transporter ZnT8 (Slc30A8) is a major autoantigen in human type 1 diabetes. Proc Natl Acad Sci U S A 2007; 104: 17040-17045.
60. Inagaki N, Gonoi T, Clement JP et al. Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. Science 1995; 270: 1166-1170.
61. Aguilar-Bryan L, Bryan J. Molecular biology of adenosine triphosphate-sensitive potassium channels. Endocr Rev 1999; 20: 101-135.
62. 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.
63. Sagen JV, Raeder H, Hathout E et al. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes 2004; 53: 2713-2718.
64. Koster JC, Marshall BA, Ensor N, Corbett JA, Nichols CG. Targeted overactivity of beta cell K(ATP) channels induces profound neonatal diabetes. Cell 2000; 100: 645-654.
65. Pearson ER, Flechtner I, Njolstad PR et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006; 355: 467-477.
66. Gloyn AL, Weedon MN, Owen KR et al. Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes 2003; 52: 568-572.
67. Hamming KS, Soliman D, Matemisz LC et al. Coexpression of the type 2 diabetes susceptibility gene variants KCNJ11 E23K and ABCC8 S1369A alter the ATP and sulfonylurea sensitivities of the ATP-sensitive K(+) channel. Diabetes 2009; 58: 2419-2424.
68. Schwanstecher C, Meyer U, Schwanstecher M. K(IR)6.2 polymorphism predisposes to type 2 diabetes by inducing overactivity of pancreatic beta-cell ATP-sensitive K(+) channels. Diabetes 2002; 51: 875-879.
69. Nielsen EM, Hansen L, Carstensen B et al. The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes. Diabetes 2003; 52: 573-577.
70. Zeggini E, Scott LJ, Saxena R et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet 2008; 40: 638-645.
71. Saxena R, Hivert MF, Langenberg C et al. Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet 2010; 42: 142-148.
72. Voight BF, Scott LJ, Steinthorsdottir V et al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet 2010; 42: 579-589.
73. Yasuda K, Miyake K, Horikawa Y et al. Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. Nat Genet 2008; 40: 1092-1097.
74. Orho-Melander M, Melander O, Guiducci C et al. Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Diabetes 2008; 57: 3112-3121.