Do non-HLA genes influence development of persistent islet autoimmunity and type 1 diabetes in children with high-risk HLA-DR,DQ genotypes?

Diabetes

Volumn 58, Issue 4, 2009, Pages 1028-1033

  Steck, Andrea K ^a   Zhang, Weiming ^a,b   Bugawan, Teodorica L ^c   Barriga, Katherine J ^a   Blair, Alan ^c   Erlich, Henry A ^c   Eisenbarth, George S ^a   Norris, Jill M ^b   Rewers, Marian J ^a,b  

^a UNIVERSITY OF COLORADO DENVER   (United States)

^b UNIVERSITY OF COLORADO   (United States)

^c ROCHE MOLECULAR SYSTEMS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; GLUTAMATE DECARBOXYLASE 65 ANTIBODY; HLA DQ ANTIGEN; HLA DQB1 ANTIGEN; HLA DR ANTIGEN; HLA DR3 ANTIGEN; HLA DR4 ANTIGEN; IA 2 ANTIBODY; IA ANTIBODY; INSULIN ANTIBODY; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOIMMUNITY; COHORT ANALYSIS; CONTROLLED STUDY; CTLA 4 GENE; DISEASE COURSE; FEMALE; GENE; GENETIC POLYMORPHISM; GENOTYPE; HIGH RISK POPULATION; HUMAN; INS GENE; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; MALE; PANCREAS ISLET; PRIORITY JOURNAL; PTPN22 GENE; RELATIVE; SURVIVAL;

ANTIGENS, CD; AUTOANTIBODIES; AUTOIMMUNITY; CHILD; CHROMOSOMES, HUMAN, PAIR 2; DIABETES MELLITUS, TYPE 1; DISEASE PROGRESSION; FEMALE; GENOTYPE; HLA-DQ ANTIGENS; HLA-DR ANTIGENS; HUMANS; INSULIN; ISLETS OF LANGERHANS; MALE; NUCLEAR FAMILY; POLYMORPHISM, GENETIC; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 22;

EID: 64649083362     PISSN: 00121797     EISSN: 1939327X     Source Type: Journal    
DOI: 10.2337/db08-1179     Document Type: Article

References (25)

1. Bell GI, Horita S, Karam JH: A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes 33:176-183, 1984
2. Marron MP, Raffel LJ, Garchon HJ, Jacob CO, Serrano-Rios M, Martinez Larrad MT, Teng WP, Park Y, Zhang ZX, Goldstein DR, Tao YW, Beaurain G, Bach JF, Huang HS, Luo DF, Zeidler A, Rotter JI, Yang MC, Modilevsky T, Maclaren NK, She JX: Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups. Hum Mol Genet 6:1275-1282, 1997
3. Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M, MacMurray J, Meloni GF, Lucarelli P, Pellecchia M, Eisenbarth GS, Comings D, Mustelin T: A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 36:337-338, 2004
4. Wellcome Trust Case Control Consortium: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447:661-678, 2007
5. Barratt BJ, Payne F, Lowe CE, Hermann R, Healy BC, Harold D, Concan- non P, Gharani N, McCarthy MI, Olavesen MG, McCormack R, Guja C, Ionescu-Tirgoviste C, Undlien DE, Ronningen KS, Gillespie KM, Tuom-ilehto-Wolf E, Tuomilehto J, Bennett ST, Clayton DG, Cordell HJ, Todd JA: Remapping the insulin gene/IDDM2 locus in type 1 diabetes. Diabetes 53:1884-1889, 2004
6. Pugliese A, Zeller M, Fernandez A Jr, Zalcberg LJ, Bartlett RJ, Ricordi C, Pietropaolo M, Eisenbarth GS, Bennett ST, Patel DD: The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes. Nat Genet 15:293-297, 1997
7. Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, Ardlie KG, Huang Q, Smith AM, Spoerke JM, Conn MT, Chang M, Chang SY, Saiki RK, Catanese JJ, Leong DU, Garcia VE, McAllister LB, Jeffery DA, Lee AT, Batliwalla F, Remmers E, Criswell LA, Seldin MF, Kastner DL, Amos CI, Sninsky JJ, Gregersen PK: A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 75:330-337, 2004 8. Vang T, Congia M, Macis MD, Musumeci L, Orru V, Zavattari P, Nika K, Tautz L, Tasken K, Cucca F, Mustelin T, Bottini N: Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 37:1317-1319, 2005
8. Smyth D, Cooper JD, Collins JE, Heward JM, Franklyn JA, Howson JM, Vella A, Nutland S, Rance HE, Maier L, Barratt BJ, Guja C, Ionescu- Tirgoviste C, Savage DA, Dunger DB, Widmer B, Strachan DP, Ring SM, Walker N, Clayton DG, Twells RC, Gough SC, Todd JA: Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/ PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus. Diabetes 53:3020-3023, 2004
9. Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE, Chang M, Ramos P, Baechler EC, Batliwalla FM, Novitzke J, Williams AH, Gillett C, Rodine P, Graham RR, Ardlie KG, Gaffney PM, Moser KL, Petri M, Begovich AB, Gregersen PK, Behrens TW: Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 75:504-507, 2004
10. Kavvoura FK, Ioannidis JP: CTLA-4 gene polymorphisms and susceptibility to type 1 diabetes mellitus: a HuGE Review and meta-analysis. Am J Epidemiol 162:3-16, 2005
11. Kouki T, Sawai Y, Gardine CA, Fisfalen ME, Alegre ML, DeGroot LJ: CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves' disease. J Immunol 165:6606-6611, 2000
12. Howson JM, Dunger DB, Nutland S, Stevens H, Wicker LS, Todd JA: A type 1 diabetes subgroup with a female bias is characterised by failure in tolerance to thyroid peroxidase at an early age and a strong association with the cytotoxic T-lymphocyte-associated antigen-4 gene. Diabetologia 50:741-746, 2007
13. Rewers M, Bugawan TL, Norris JM, Blair A, Beaty B, Hoffman M, McDuffie RS, Hamman RF, Klingensmith G, Eisenbarth GS, Erlich HA: Newborn screening for HLA markers associated with IDDM: Diabetes Autoimmunity Study in the Young (DAISY). Diabetologia 39:807-812, 1996
14. Yu L, Rewers M, Gianani R, Kawasaki E, Zhang Y, Verge C, Chase P, Klingensmith G, Erlich H, Norris J, Eisenbarth GS: Antiislet autoantibodies usually develop sequentially rather than simultaneously. J Clin Endocrinol Metab 81:4264-4267, 1996
15. Torn C, Mueller PW, Schlosser M, Bonifacio E, Bingley PJ: Diabetes Antibody Standardization Program: evaluation of assays for autoantibod- ies to glutamic acid decarboxylase and islet antigen-2. Diabetologia 51:846-852, 2008
16. Mirel DB, Valdes AM, Lazzeroni LC, Reynolds RL, Erlich HA, Noble JA: Association of IL4R haplotypes with type 1 diabetes. Diabetes 51:3336-3341, 2002
17. Hermann R, Lipponen K, Kiviniemi M, Kakko T, Veijola R, Simell O, Knip M, Ilonen J: Lymphoid tyrosine phosphatase (LYP/PTPN22) Arg620Trp variant regulates insulin autoimmunity and progression to type 1 diabetes. Diabetologia 49:1198-1208, 2006
18. Petrone A, Spoletini M, Zampetti S, Capizzi M, Zavarella S, Osborn J, Pozzilli P, Buzzetti R: The PTPN22 1858T gene variant in type 1 diabetes is associated with reduced residual p-cell function and worse metabolic control. Diabetes Care 31:1214-1218, 2008
19. Cloutier JF, Veillette A: Cooperative inhibition of T-cell antigen receptor signaling by a complex between a kinase and a phosphatase. J Exp Med 189:111-121, 1999
20. Rieck M, Arechiga A, Onengut-Gumuscu S, Greenbaum C, Concannon P, Buckner JH: Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes. J Immunol 179:4704-4710, 2007 22. Aarnisalo J, Treszl A, Svec P, Marttila J, Oling V, Simell O, Knip M, Korner
21. A, Madacsy L, Vasarhelyi B, Ilonen J, Hermann R: Reduced CD4(+)T cell activation in children with type 1 diabetes carrying the PTPN22/Lyp 620Trp variant. J Autoimmun 31:13-21, 2008 23. Criswell LA, Pfeiffer KA, Lum RF, Gonzales B, Novitzke J, Kern M, Moser KL, Begovich AB, Carlton VE, Li W, Lee AT, Ortmann W, Behrens TW, Gregersen PK: Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet 76:561-571, 2005
22. Lee AT, Li W, Liew A, Bombardier C, Weisman M, Massarotti EM, Kent J, Wolfe F, Begovich AB, Gregersen PK: The PTPN22 R620W polymorphism associates with RF positive rheumatoid arthritis in a dose-dependent manner but not with HLA-SE status. Genes Immun 6:129-133, 2005
23. Hermann R, Laine AP, Veijola R, Vahlberg T, Simell S, Lahde J, Simell O, Knip M, Ilonen J: The effect of HLA class II, insulin and CTLA4 gene regions on the development of humoral beta cell autoimmunity. Diabeto-logia 48:1766-1775, 2005
24. Walter M, Albert E, Conrad M, Keller E, Hummel M, Ferber K, Barratt BJ, Todd JA, Ziegler AG, Bonifacio E: IDDM2/insulin VNTR modifies risk conferred by IDDM1/HLA for development of Type 1 diabetes and associated autoimmunity. Diabetologia 46:712-720, 2003
25. Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G, Rainbow DB, Hunter KM, Smith AN, Di Genova G, Herr MH, Dahlman I, Payne F, Smyth D, Lowe C, Twells RC, Howlett S, Healy B, Nutland S, Rance HE, Everett V, Smink LJ, Lam AC, Cordell HJ, Walker NM, Bordin C, Hulme J, Motzo C, Cucca F, Hess JF, Metzker ML, Rogers J, Gregory S, Allahabadia A, Nithiyananthan R, Tuomilehto-Wolf E, Tuomilehto J, Bing- ley P, Gillespie KM, Undlien DE, Ronningen KS, Guja C, Ionescu-Tirgoviste C, Savage DA, Maxwell AP, Carson DJ, Patterson CC, Franklyn JA, Clayton DG, Peterson LB, Wicker LS, Todd JA, Gough SC: Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 423:506-511, 2003