Genetic and functional evaluation of an interleukin-12 polymorphism (IDDM18) in families with type 1 diabetes

Journal of Medical Genetics

Volumn 41, Issue 4, 2015, Pages

  Bergholdt, R ^a   Ghandil, P ^b   Johannesen, J ^a   Kristiansen, O P ^a   Kockum, I ^c   Luthman, H ^d   Ronningen K S ^e   Nerup, J ^a   Julier, C ^b   Pociot, F ^a  

^a STENO DIABETES CENTER   (Denmark)

^b INSTITUT PASTEUR   (France)

^c KAROLINSKA INSTITUTE   (Sweden)

^d LUND UNIVERSITY   (Sweden)

^e NORWEGIAN INSTITUTE OF PUBLIC HEALTH   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 12; INTERLEUKIN 12P40; PROTEIN SUBUNIT;

ADOLESCENT; ADULT; BIOSYNTHESIS; CHILD; ENZYME LINKED IMMUNOSORBENT ASSAY; FAMILY HEALTH; GENE LINKAGE DISEQUILIBRIUM; GENETIC PREDISPOSITION; GENETICS; HUMAN; IMMUNOLOGY; INFANT; INSULIN DEPENDENT DIABETES MELLITUS; LETTER; PRESCHOOL CHILD; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DIABETES MELLITUS, TYPE 1; ENZYME-LINKED IMMUNOSORBENT ASSAY; FAMILY HEALTH; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INTERLEUKIN-12; INTERLEUKIN-12 SUBUNIT P40; LINKAGE DISEQUILIBRIUM; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN SUBUNITS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 2342649514     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2003.010454     Document Type: Article

References (35)

1. Pociot F, McDermott MF. Genetics of type 1 diabetes mellitus. Genes Immun 2002;3:235–49.
2. Huang D, Cancilla MR, Morahan G. Complete primary structure, chromosomal localisation, and definition of polymorphisms of the gene encoding the human interleukin-12 p40 subunit. Genes Immun 2000;1:515–20.
3. Warrington JA, Bengtsson U. High-resolution physical mapping of human 5q31–q33 using 3 methods—radiation hybrid mapping, interphase fluorescence in-situ hybridization, and pulsed-field gel-electrophoresis. Genomics 1994;24:395–8.
4. Morahan G, Huang DX, Ymer SI, Cancilla MR, Stephen K, Dabadghao P, Werther G, Tait BD, Harrison LC, Colman PG. Linkage disequilibrium of a type 1 diabetes susceptibility locus with a regulatory IL12B allele. Nature Genet 2001;27:218–21.
5. Adorini L. Interleukin 12 and autoimmune diabetes. Nature Genet 2001;27:131–2.
6. Liblau RS, Singer SM, McDevitt HO. Th1 and Th2 CD4(+)T-cells in the pathogenesis of organ-specific autoimmune-diseases. Immunol Today 1995;16:34–8.
7. Tian J, Olcott AP, Hanssen LR, Zekzer D, Middleton B, Kaufman DL. Infectious Th1 and Th2 autoimmunity in diabetes-prone mice. Immunol Rev 1998;164:119–27.
8. Manetti R, Parronchi P, Giudizi MG, Piccinni MP, Maggi E, Trinchieri G, Romagnani S. Natural-killer-cell stimulatory factor (Interleukin-12 (IL-12)) induces T-helper type-1 (Th1)-specific immune-responses and inhibits the development of IL-4-producing Th2 cells. J Exp Med 1993;177:1199–204.
9. Lamont AG, Adorini L. IL-12—a key cytokine in immune regulation. Immunol Today 1996;17:214–17.
10. Trembleau S, Penna G, Bosi E, Mortara A, Gately MK, Adorini L. Interleukin-12 administration induces T-helper type-1 cells and accelerates autoimmune diabetes in NOD mice. J Exp Med 1995;181:817–21.
11. Segal BM, Shevach EM. IL-12 unmasks latent autoimmune-disease in resistant mice. J Exp Med 1996;184:771–5.
12. Segal BM, Klinman DM, Shevach EM. Microbial products induce autoimmune-disease by an IL-12-dependent pathway. J Immunol 1997;158:5087–90.
13. Mattner F, Fischer S, Guckes S, Jin SC, Kaulen H, Schmitt E, Rude E, Germann T. The interleukin-12 subunit p40 specifically inhibits effects of the interleukin-12 heterodimer. Eur J Immun 1993;23:2202–8.
14. Hall MA, McGlinn E, Coakley G, Fisher SA, Boki K, Middleton D, Kaklamani E, Moutsopoulos H, Loughran TP, Ollier WE, Panayi GS, Lanchbury JS. Genetic polymorphism of IL-12 p40 gene in immune-mediated disease. Genes Immun 2000;1:219–24.
15. Nerup J, Pociot F, for ECIGS. A genomewide scan for type 1-diabetes susceptibility in Scandinavian families: identification of new loci with evidence of interactions. Am J Hum Genet 2001;69:1301–13.
16. Pociot F, Norgaard K, Hobolth N, Andersen O, Nerup J. A nationwide population-based study of the familial aggregation of type-1 (insulin-dependent) diabetes mellitus in Denmark. Diabetologia 1993;36:870–5.
17. Lorenzen T, Pociot F, Stilgren L, Kristiansen OP, Johannesen J, Olsen PB, Walmar A, Larsen A, Albrechtsen NC, Eskildsen PC, Andersen OO, Nerup J. Predictors of IDDM recurrence risk in offspring of Danish IDDM patients. Diabetologia 1998;41:666–73.
18. Delepine M, Pociot F, Habita C, Hashimoto L, Froguel P, Rotter J, Cambon-Thomsen A, Deschamps I, Djoulah S, Weissenbach J, Nerup J, Lathrop M, Julier C. Evidence of a non-MHC susceptibility locus in type I diabetes linked to HLA on chromosome 6. Am J Hum Genet 1997;60:174–87.
19. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
20. Bergholdt R, Larsen ZM, Andersen NA, Johannesen J, Kristiansen OP, Mandrup-Poulsen T, Nerup J, Pociot F. Characterization of new polymorphisms in the 59 UTR of the human Interleukin-1 receptor type 1 (IL1R1) gene: linkage to Type 1 diabetes and correlation to IL-1RI plasma level. Genes Immun 2000;1:495–500.
21. Taneichi M, Horino A, Naito S, Sakurai S, Komuro K, Uchida T. Differential stimulation requirements for IL-12 production among clones of macrophage hybridomas. J Interferon Cytokine Res 1997;17:603–7.
22. Goodier MR, Londei M. Lipopolysaccharide stimulates the proliferation of human CD56(+)CD3(-) NK cells: A regulatory role of monocytes and IL-10. J Immunol 2000;165:139–47.
23. Lio D, Danna C, Gervasi F, Scola L, Potestio M, Dilorenzo G, Listi F, Colombo A, Candore G, Caruso C. Interleukin-12 release by mitogenstimulated mononuclear-cells in the elderly. Mech Ageing Dev 1998;102:211–19.
24. Hayes MP, Wang JH, Norcross MA. Regulation of Interleukin-12 expression in human monocytes—selective priming by interferon-gamma of lipopolysaccharide-inducible p35 and p40 genes. Blood 1995;86:646–50.
25. Ma X, Chow JM, Gri G, Carra G, Gerosa F, Wolf SF, Dzialo R, Trinchieri G. The interleukin 12 p40 gene promoter is primed by interferon gamma in monocytic cells. J Exp Med 1996;183:147–57.
26. Karlsen AE, Ronn SG, Lindberg K, Johannesen J, Galsgaard ED, Pociot F, Nielsen JH, Mandrup-Poulsen T, Nerup J, Billestrup N. Suppressor of cytokine signaling 3 (SOCS-3) protects beta-cells against interleukin-1beta- and interferon-gamma-mediated toxicity. Proc Natl Acad Sci USA 2001;98:12191–6.
27. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium—the insulin gene region and insulin-dependent diabetes-mellitus (IDDM). Am J Hum Gen 1993;52:506–16.
28. Davoodi-Semiromi A, Yang JJ, She JX. IL-12p40 is associated with type 1 diabetes in Caucasian-American families. Diabetes 2002;51:2334–6.
29. Dahlman I, Eaves I, Kosoy R, Morrison V, Heward J, Gough S, Allahabadia A, Franklyn J, Tuomilehto J, Tuomilehto-Wolf E, Cucca F, Guja C, Ionescu-Tirgoviste C, Stevens H, Carr P, Nutland S, McKinney P, Shield J, Wang W, Cordell H, Walker N, Todd J, Concannon P. Parameters for reliable results in genetic association studies in common disease. Nat Genet 2002;30:149–50.
30. Johansson S, Lie BA, Thorsby E, Undlien DE. The polymorphism in the 39 untranslated region of IL12B has a negligible effect on the susceptibility to develop type 1 diabetes in Norway. Immunogenetics 2001;53:603–5.
31. Nistico L, Giorgi G, Giordano M, Galgani A, Petrone A, D’Alfonso S, Federici M, Di-Mario U, Pozzilli P, Buzzetti R, Cascino I. IL12B polymorphism and type 1 diabetes in the Italian population—a case–control study. Diabetes 2002;51:1649–50.
32. McCormack RM, Maxwell AP, Carson DJ, Patterson CC, Middleton D, Savage DA. The IL12B 39 untranslated region DNA polymorphism is not associated with early-onset type 1 diabetes. Genes Immun 2002;3:433–5.
33. Eaves IA, Bennett ST, Forster P, Ferber KM, Ehrmann D, Wilson AJ, Bhattacharyya S, Ziegler AG, Brinkmann B, Todd JA. Transmission ratio distortion at the INS-IGF2 VNTR. Nat Genet 1999;22:324–5.
34. Rothe H, Ohara RM, Martin S, Kolb H. Suppression of cyclophosphamideinduced diabetes development and pancreatic Th1 reactivity in NOD mice treated with the Interleukin (IL)-12 antagonist IL-12(p40). Diabetologia 1997;40:641–6.
35. Seegers D, Zwiers A, Strober W, Peña AS, Bouma G. A TaqI polymorphism in the 39UTR of the IL-12 p40 gene correlates with increased IL-12 secretion. Genes Immun 2002;3:419–23.