IDDM2/insulin VNTR modifies risk conferred by IDDM1/HLA for development of Type 1 diabetes and associated autoimmunity

Diabetologia

Volumn 46, Issue 5, 2003, Pages 712-720

  Walter, M ^a   Albert, E ^b   Conrad, M ^a   Keller, E ^b   Hummel, M ^a   Ferber, K ^a   Barratt, B J ^c   Todd, J A ^c   Ziegler, A G ^a   Bonifacio, E ^d  

^a Klinikum Schwabing   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

Autoantibodies; HLA; IDDM1; IDDM2; Insulin

Indexed keywords

AUTOANTIBODY;

ADULT; ARTICLE; AUTOIMMUNE DISEASE; CASE CONTROL STUDY; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENETIC SUSCEPTIBILITY; GENOTYPE; HLA SYSTEM; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; MALE; PATHOGENICITY; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; VARIABLE NUMBER OF TANDEM REPEAT;

EID: 10744222979     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00125-003-1082-z     Document Type: Article

References (24)

1. Cox NJ, Wapelhorst B, Morrison VA et al. (2001) Seven regions of the genome show evidence of linkage to Type 1 diabetes in a consensus analysis of 767 multiplex families. Am J Hum Genet 69:820-830
2. Redondo MJ, Eisenbarth GS (2002) Genetic control of autoimmunity in Type I diabetes and associated disorders. Diabetologia 45:605-622
3. Bennett ST, Lucassen AM, Gough SC et al. (1995) Susceptibility to human type 1 diabetes atIDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nat Genet 9:284-292
4. Cordell HJ, Todd JA, Bennett ST, Kawaguchi Y, Farrall M (1995) Two-locus maximum lod score analysis of a multifactorial trait: joint consideration ofIDDM2 and IDDM4 with IDDM1 in type 1 diabetes. Am J Hum Genet 57:920-934
5. Ziegler AG, Hummel M, Schenker M, Bonifacio E (1999) Autoantibody appearance and risk for development of childhood diabetes in offspring of parents with type 1 diabetes: the 2-year analysis of the German BABYDIAB Study. Diabetes 48:460-468
6. Yu L, Robles DT, Abiru N et al. (2000) Early expression of antiinsulin autoantibodies of humans and the NOD mouse: evidence for early determination of subsequent diabetes. Proc Natl Acad Sci USA 97:1701-1706
7. Naserke HE, Bonifacio E, Ziegler AG (2001) Prevalence, characteristics and diabetes risk associated with transient maternally acquired islet antibodies and persistent islet antibodies in offspring of parents with type 1 diabetes. J Clin Endocrinol Metab86:4826-4833
8. Schenker M, Hummel M, Ferber K et al. (1999) Early expression and high prevalence of islet autoantibodies for DR3/4 heterozygous and DR4/4 homozygous offspring of parents with Type I diabetes: The German BABYDIAB study. Diabetologia 42:671-677
9. Yu J, Yu L, Bugawan TL et al. (2000) Transient antiislet autoantibodies: infrequent occurence and lack of association with "genetic" risk factors. J Clin Endocrinol Metab 85:2421-2428
10. Kupila A, Keskinen P, Simell T et al. (2002) Genetic risk determines the emergence of diabetes-associated autoantibodies in young children. Diabetes 51:646-651
11. Bingley PJ, Bonifacio E, Mueller P and participating laboratories (2001) Diabetes antibody standardisation programme: first assay proficiency evaluation Diabetologia 44 [Suppl. 1]:A 74 (Abstract)
12. Zavattari P, Lampis R, Motzo C et al. (2001) Conditional linkage disequilibrium analysis of a complex disease superlocus,IDDM1 in the HLA region, reveals the presence of independent modifying gene effects influencing the type 1 diabetes risk encoded by the major HLA-DQB1, -DRB1 disease loci. Hum Mol Genet10:881-889
13. Buyse I, Sandkuyl LA, Zamani Ghabanbasani M et al. (1994) Association of particular HLA class II alleles, haplotypes and genotypes with susceptibility to IDDMin the Belgian population. Diabetologia 37:808-817
14. Baisch JM, Weeks T, Giles R, Hoover M, Stastny P, Capra JD (1990) Analysis of HLA-DQ genotypes and susceptibility in insulin-dependent diabetes mellitus. The N Engl J Med 322:1836-1841
15. Caillat-Zucman S, Djilali-Saiah I, Timsit J et al. (1997) Insulin dependent diabetes mellitus (IDDM): 12th International Histocompatibility Workshop study. In: Charron D (ed.) HLA. Proceedings of the Twelfth Histocompatibility Workshop and Conference, vol 2. EDK, Paris, pp 389-398
16. Cucca F, Congia M, Angius E et al. (2001) A correlation between the relative predisposition of MHC class II alleles to type 1 diabetes and the structure of their proteins. Hum Mol Genet 10:2025-2037
17. Bell GI, Horita S, Karam JH (1984) A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes33:176-183
18. Chowdhury TA, Mijovic CH, Barnett AH (1999) The aetiology of Type I diabetes. Best Pract Res Clin Endocrinol Metab 13:181-195
19. Awata T, Kurihara S, Kikuchi C et al. (1997) Evidence for association between the class I subset of theinsulin gene minisatellite (IDDM2 locus) and IDDMin the Japanese population. Diabetes 46:1637-1642
20. Auwera B van der, Schuit F, Lyaruu I et al. (1995) Genetic susceptibility for insulin-dependent diabetes mellitus in Caucasians revisited: the importance of diabetes registries in disclosing interactions between HLA-DQ- andinsulin gene-linked risk. Belgian Diabetes Registry. J Clin Endocrinol Metab 80:2564-2565
21. Pugliese A, Zeller M, Fernandez A Jr et al. (1997) 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
22. Vafiadis P, Bennett ST, Todd JA et al. (1997) Insulin expression in human thymus is modulated byINS VNTR alleles at the IDDM2 locus. Nat Genet 15:289-292
23. Graham J, Hagopian WA, Kockum I et al. (2002) Genetic effects on age-dependent onset and islet cell autoantibody markers in Type 1 diabetes. Diabetes 51:1346-1355
24. Colman P, Steele C, Couper JJ et al. (2000) Islet autoimmunity in infants with a Type I diabetic relative is common but is frequently restricted to one autoantibody. Diabetologia 43:203-209