Mutation analysis of suppressor of cytokine signalling 3, a candidate gene in Type 1 diabetes and insulin sensitivity

Diabetologia

Volumn 47, Issue 7, 2004, Pages 1273-1277

  Gylvin, T ^a   Nolsoe R ^a   Hansen, T ^a   Nielsen, E M D ^a   Bergholdt, R ^a   Karlsen, A E ^a   Billestrup, N ^a   Borch Johnsen, K ^a,b   Pedersen, O ^a,b   Mandrup Poulsen, T ^a,c   Nerup, J ^a   Pociot, F ^a  

^a STENO DIABETES CENTER   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

^c KAROLINSKA INSTITUTE   (Sweden)

Author keywords

Beta cell; Cytokines; Diabetes; Insulin sensitivity; Insulin signalling; Mutation scanning; Promoter

Indexed keywords

3' UNTRANSLATED REGION; ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GLUCOSE TOLERANCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; INSULIN SENSITIVITY; MALE; MUTATIONAL ANALYSIS; NON INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL; PROMOTER REGION; SUPPRESSOR GENE; SUPRESSOR OF CYTOKINE SIGNALLING 3 GENE; WILD TYPE;

EID: 4143077087     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00125-004-1440-5     Document Type: Article

References (31)

1. Nerup J, Mandrup-Poulsen T, Helqvist S et al. (1994) On the pathogenesis of IDDM. Diabetologia 37:S82-S89
2. Butler AE, Janson J, Bonner-Weir S, Ritzel R, Rizza RA, Butler PC (2003) Beta-cell deficit and increased beta-cell apoptosis in humans with type 2 diabetes. Diabetes 52:102-110
3. Esposito K, Nappo F, Giugliano F et al. (2003) Cytokine milieu tends toward inflammation in type 2 diabetes. Diabetes Care 26:1647
4. Kubaszek A, Pihlajamäki J, Komarovski V et al. (2003) Promoter polymorphisms of the TNF-alpha (G-308A) and IL-6 (C-174G) genes predict the conversion from impaired glucose tolerance to type 2 diabetes: the Finnish Diabetes Prevention Study. Diabetes 52:1872-1876
5. Spranger J, Kroke A, Möhlig M et al. (2003) Inflammatory cytokines and the risk to develop type 2 diabetes: results of the prospective population-based European Prospective Investigation into Cancer and Nutrition (EPIC)-Potsdam Study. Diabetes 52:812-817
6. Esposito K, Nappo F, Marfella R et al. (2002) Inflammatory cytokine concentrations are acutely increased by hyperglycemia in humans: role of oxidative stress. Circulation 106:2067-2072
7. Grimble RF (2002) Inflammatory status and insulin resistance. Curr Opin Clin Nutr Metab Care 5:551-559
8. Kim F, Gallis B, Corson MA (2001) TNF-alpha inhibits flow and insulin signaling leading to NO production in aortic endothelial cells. Am J Physiol Cell Physiol 280:C1057-C1065
9. Starr R, Willson TA, Viney EM et al. (1997) A family of cytokine-inducible inhibitors of signalling. Nature 387:917-921
10. Krebs DL, Hilton DJ (2001) SOCS proteins: negative regulators of cytokine signaling. Stem Cells 19:378-387
11. Karlsen AE, Rønn SG, Lindberg K et al. (2001) Suppressor of cytokine signaling 3 (SOCS-3) protects beta cells against interleukin-1beta- and interferon-gamma-mediated toxicity. Proc Natl Acad Sci USA 98:12191-12196
12. Rui L, Yuan M, Frantz D, Shoelson S, White MF (2002) SOCS-1 and SOCS-3 block insulin signaling by ubiquitin-mediated degradation of IRS1 and IRS2. J Biol Chem 277:42394-42398
13. Luger A, Prager R, Gaube S, Graf H, Klauser R, Schernthaner G (1990) Decreased peripheral insulin sensitivity in acromegalic patients. Exp Clin Endocrinol 95:339-343
14. Almind K, Doria A, Kahn CR (2001) Putting the genes for type II diabetes on the map. Nat Med 7:277-279
15. Froguel P, Velho G (2001) Genetic determinants of type 2 diabetes. Recent Prog Horm Res 56:91-105
16. Kahn CR, Vicent D, Doria A (1996) Genetics of non-insulin-dependent (type-II) diabetes mellitus. Annu Rev Med 47:509-531
17. Evans JL, Goldfine ID, Maddux BA, Grodsky GM (2002) Oxidative stress and stress-activated signaling pathways: a unifying hypothesis of type 2 diabetes. Endocr Rev 23:599-622
18. Ohlsson R, Kanduri C (2002) New twists on the epigenetics of CpG islands. Genome Res 12:525-526
19. Pociot F, Nørgaard K, Hobolth N, Andersen O, Nerup J (1993) A nationwide population-based study of the familial aggregation of type-1 (insulin-dependent) diabetes-mellitus in Denmark. Diabetologia 36:870-875
20. Lorenzen T, Pociot F, Stilgren L et al. (1998) Predictors of IDDM recurrence risk in offspring of Danish IDDM patients. Diabetologia 41:666-673
21. Hansen T, Ambye L, Grarup N et al. (2001) Genetic variability of the SUR1 promoter in relation to beta-cell function and Type II diabetes mellitus. Diabetologia 44:1330-1334
22. Clausen JO, Borch-Johnsen K, Ibsen H et al. (1996) Insulin sensitivity index, acute insulin response, and glucose effectiveness in a population-based sample of 380 young healthy Caucasians. Analysis of the impact of gender, body fat, physical fitness, and life-style factors. J Clin Invest 98:1195-1209
23. Johannesen J, Pie A, Pociot F, Kristiansen OP, Karlsen AE, Nerup J (2001) Linkage of the human inducible nitric oxide synthase gene to type 1 diabetes. J Clin Endocrinol Metab 86:2792-2796
24. Larsen ZM, Johannesen J, Kristiansen OP, Nerup J, Pociot F; Danish IDDM Epidemiology and Genetics Group; Danish Study Group of IDDM in Childhood (2004) Evidence for linkage on chromosome 4p16.1 in Type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) gene. Diabetic Med 21:218-222
25. The National Center for Biotechnology Information (NCBI), http://www.ncbi.nlm.nih.gov (latest access 15/12/2003)
26. Spielman RS, Ewens WJ (1998) A sibship test for linkage in the presence of association: the sib transmission/disequilibrium test. Am J Hum Genet 62:450-458
27. Spielman RS, Mcginnis RE, Ewens WJ (1993) Transmission test for linkage disequilibrium - the insulin gene region and insulin-dependent diabetes-mellitus (IDDM). Am J Hum Gen 52:506-516
28. AliBaba version 2.1, http://www.alibaba2.com (latest access 17/12/2003)
29. Matlnspector version 7.0,http://www.genomatix.de/cgi-bin/ matinspector_prof/mat (latest access 17/12/2003)
30. Mertens PR, Alfonso-Jaume MA, Steinmann K, Lovett DH (1998) A synergistic interaction of transcription factors AP2 and YB-1 regulates gelatinase A enhancer-dependent transcription. J Biol Chem 273:32957-32965
31. Krebs DL, Hilton DJ (2003) A new role for SOCS in insulin action. Sci STKE 2003 (169):PE6