Zinc transporter 8 autoantibodies and their association with SLC30A8 and HLA-DQ genes differ between immigrant and Swedish patients with newly diagnosed type 1 diabetes in the better diabetes diagnosis study

Diabetes

Volumn 61, Issue 10, 2012, Pages 2556-2564

  Delli, Ahmed J ^a   Vaziri Sani, Fariba ^a   Lindblad, Bengt ^b   Elding Larsson, Helena ^a   Carlsson, Annelie ^a   Forsander, Gun ^c   Ivarsson, Sten A ^a   Ludvigsson, Johnny ^d   Kockum, Ingrid ^e   Marcus, Claude ^e   Samuelsson, Ulf ^f   Örtqvist, Eva ^e   Groop, Leif ^a   Bondinas, George P ^g   Papadopoulos, George K ^g   Lernmark, Åke ^a  

^a LUND UNIVERSITY   (Sweden)

^b UNIVERSITY OF GOTHENBURG   (Sweden)

^c QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^d LINKÖPING UNIVERSITY   (Sweden)

^e KAROLINSKA INSTITUTE   (Sweden)

^f LINKÖPING UNIVERSITY HOSPITAL   (Sweden)

^g Faculty of Agricultural Technology   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE ZINC TRANSPORTER 8 AUTOANTIBODY; AUTOANTIBODY; GLUTAMINE ZINC TRANSPORTER 8 AUTOANTIBODY; HLA DQ ANTIGEN; PROTEIN ANTIBODY; TRYPTOPHAN ZINC TRANSPORTER 8 AUTOANTIBODY; UNCLASSIFIED DRUG;

ARTICLE; AUTOIMMUNE DISEASE; CHILD; CONTROLLED STUDY; DIABETIC PATIENT; FEMALE; GENE; GENETIC ASSOCIATION; GENOTYPE; HUMAN; IMMIGRANT; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SCHOOL CHILD; SIMULATION; SLC30A8 GENE; SWEDEN;

ADOLESCENT; AFRICAN CONTINENTAL ANCESTRY GROUP; AUTOANTIBODIES; CATION TRANSPORT PROTEINS; CHILD; CHILD, PRESCHOOL; DIABETES MELLITUS, TYPE 1; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HLA-DQ ANTIGENS; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; SWEDEN;

EID: 84866596750     PISSN: 00121797     EISSN: 1939327X     Source Type: Journal    
DOI: 10.2337/db11-1659     Document Type: Article

References (49)

1. American Diabetes Association. Diagnosis and classification of diabetes mellitus. Diabetes Care 2010;33(Suppl. 1):S62-S69
2. Notkins AL, Lernmark A. Autoimmune type 1 diabetes: resolved and unresolved issues. J Clin Invest 2001;108:1247-1252 (Pubitemid 33107747)
3. Bingley PJ, Bonifacio E, Williams AJ, Genovese S, Bottazzo GF, Gale EA. Prediction of IDDM in the general population: strategies based on combinations of autoantibody markers. Diabetes 1997;46:1701-1710 (Pubitemid 27456400)
4. Vermeulen I, Weets I, Asanghanwa M, et al.; Belgian Diabetes Registry. Contribution of antibodies against IA-2b and zinc transporter 8 to classification of diabetes diagnosed under 40 years of age. Diabetes Care 2011;34:1760-1765
5. 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 USA 2007;104:17040-17045 (Pubitemid 350210987)
6. Wenzlau JM, Moua O, Sarkar SA, et al. SlC30A8 is a major target of humoral autoimmunity in type 1 diabetes and a predictive marker in prediabetes. Ann N Y Acad Sci 2008;1150:256-259
7. Lampasona V, Petrone A, Tiberti C, et al.; Non Insulin Requiring Autoimmune Diabetes (NIRAD) Study Group. Zinc transporter 8 antibodies complement GAD and IA-2 antibodies in the identification and characterization of adult-onset autoimmune diabetes: Non Insulin Requiring Autoimmune Diabetes (NIRAD) 4. Diabetes Care 2010;33:104-108
8. Seve M, Chimienti F, Devergnas S, Favier A. In silico identification and expression of SLC30 family genes: an expressed sequence tag data mining strategy for the characterization of zinc transporters' tissue expression. BMC Genomics 2004;5:32
9. 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 (Pubitemid 44774026)
10. Wenzlau JM, Frisch LM, Gardner TJ, Sarkar S, Hutton JC, Davidson HW. Novel antigens in type 1 diabetes: the importance of ZnT8. Curr Diab Rep 2009;9:105-112
11. Eisenbarth GS, Jeffrey J. The natural history of type 1A diabetes. Arq Bras Endocrinol Metabol 2008;52:146-155
12. Achenbach P, Lampasona V, Landherr U, et al. Autoantibodies to zinc transporter 8 and SLC30A8 genotype stratify type 1 diabetes risk. Diabetologia 2009;52:1881-1888
13. Gohlke H, Ferrari U, Koczwara K, Bonifacio E, Illig T, Ziegler AG. SLC30A8 (ZnT8) Polymorphism is Associated with Young Age at Type 1 Diabetes Onset. Rev Diabet Stud 2008;5:25-27
14. Raj SM, Howson JM, Walker NM, et al. No association of multiple type 2 diabetes loci with type 1 diabetes. Diabetologia 2009;52:2109-2116
15. 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
16. Cauchi S, Del Guerra S, Choquet H, et al. Meta-analysis and functional effects of the SLC30A8 rs13266634 polymorphism on isolated human pancreatic islets. Mol Genet Metab 2010;100:77-82
17. Boesgaard TW, Zilinskaite J, Vänttinen M, et al.; EUGENE 2 Consortium. The common SLC30A8 Arg325Trp variant is associated with reduced firstphase insulin release in 846 non-diabetic offspring of type 2 diabetes patients - the EUGENE2 study. Diabetologia 2008;51:816-820
18. Nielsen LB, Vaziri-Sani F, Pörksen S, et al.; Hvidoere Study Group on Childhood Diabetes. Relationship between ZnT8Ab, the SLC30A8 gene and disease progression in children with newly diagnosed type 1 diabetes. Autoimmunity 2011;44:616-623
19. Eerligh P, van Lummel M, Zaldumbide A, et al. Functional consequences of HLA-DQ8 homozygosity versus heterozygosity for islet autoimmunity in type 1 diabetes. Genes Immun 2011;12:415-427
20. Dang M, Rockell J, Wagner R, et al. Human type 1 diabetes is associated with T cell autoimmunity to zinc transporter 8. J Immunol 2011;186:6056-6063
21. Jaume JC, Parry SL, Madec AM, Sønderstrup G, Baekkeskov S. Suppressive effect of glutamic acid decarboxylase 65-specific autoimmune B lymphocytes on processing of T cell determinants located within the antibody epitope. J Immunol 2002;169:665-672 (Pubitemid 34753421)
22. Delli AJ, Lindblad B, Carlsson A, et al.; Better Diabetes Diagnosis (BDD) Study Group. Type 1 diabetes patients born to immigrants to Sweden increase their native diabetes risk and differ from Swedish patients in HLA types and islet autoantibodies. Pediatr Diabetes 2010;11:513-520
23. The Expert Committee on the Diagnosis and Classifcation of Diabetes Mellitus. Follow-up Report on the Diagnosis of Diabetes Mellitus. Diabetes Care 2003;26:3160-3167
24. World Health Organization. Definition and diagnosis of diabetes mellitus and intermediate hyperglycemia: report of a WHO/IDF consultation. Geneva, Switzerland, WHO Press, 2006
25. Vaziri-Sani F, Delli AJ, Elding-Larsson H, et al. A novel triple mix radio-binding assay for the three ZnT8 (ZnT8-RWQ) autoantibody variants in children with newly diagnosed diabetes. J Immunol Methods 2011;371:25-37
26. Lampasona V, Schlosser M, Mueller PW, et al. Diabetes antibody standardization program: first proficiency evaluation of assays for autoantibodies to zinc transporter 8. Clin Chem 2011;57:1693-1702
27. Grubin CE, Daniels T, Toivola B, et al. A novel radioligand binding assay to determine diagnostic accuracy of isoform-specific glutamic acid decarboxylase antibodies in childhood IDDM. Diabetologia 1994;37:344-350 (Pubitemid 24113564)
28. Payton MA, Hawkes CJ, Christie MR. Relationship of the 37,000- and 40,000-M(r) tryptic fragments of islet antigens in insulin-dependent diabetes to the protein tyrosine phosphatase-like molecule IA-2 (ICA512). J Clin Invest 1995;96:1506-1511
29. Mire-Sluis AR, Gaines Das R, Lernmark A. The World Health Organization International Collaborative Study for islet cell antibodies. Diabetologia 2000;43:1282-1292
30. Williams AJ, Bingley PJ, Bonifacio E, Palmer JP, Gale EA. A novel microassay for insulin autoantibodies. J Autoimmun 1997;10:473-478
31. Schlosser M, Mueller PW, Törn C, Bonifacio E, Bingley PJ; Participating Laboratories. Diabetes Antibody Standardization Program: evaluation of assays for insulin autoantibodies. Diabetologia 2010;53:2611-2620
32. 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
33. Kiviniemi M, Hermann R, Nurmi J, et al.; TEDDY Study Group. A high-throughput population screening system for the estimation of genetic risk for type 1 diabetes: an application for the TEDDY (the Environmental Determinants of Diabetes in the Young) study. Diabetes Technol Ther 2007;9:460-472
34. van de Wal Y, Kooy YM, Drijfhout JW, Amons R, Koning F. Peptide binding characteristics of the coeliac disease-associated DQ(alpha1*0501, beta1*0201) molecule. Immunogenetics 1996;44:246-253 (Pubitemid 26265801)
35. Vartdal F, Johansen BH, Friede T, et al. The peptide binding motif of the disease associated HLA-DQ (alpha 1*0501, beta 1*0201) molecule. Eur J Immunol 1996;26:2764-2772 (Pubitemid 26364857)
36. Kwok WW, Domeier ML, Raymond FC, Byers P, Nepom GT. Allele-specific motifs characterize HLA-DQ interactions with a diabetes-associated peptide derived from glutamic acid decarboxylase. J Immunol 1996;156:2171-2177
37. Godkin A, Friede T, Davenport M, et al. Use of eluted peptide sequence data to identify the binding characteristics of peptides to the insulin-dependent diabetes susceptibility allele HLA-DQ8 (DQ 3.2). Int Immunol 1997;9:905-911 (Pubitemid 27231970)
38. Moustakas AK, van de Wal Y, Routsias J, et al. Structure of celiac disease-associated HLA-DQ8 and non-associated HLA-DQ9 alleles in complex with two disease-specific epitopes. Int Immunol 2000;12:1157-1166 (Pubitemid 30616221)
39. Wenzlau JM, Hutton JC, Davidson HW. New antigenic targets in type 1 diabetes. Curr Opin Endocrinol Diabetes Obes 2008;15:315-320
40. Qu HQ, Grant SF, Bradfield JP, et al. Association analysis of type 2 diabetes Loci in type 1 diabetes. Diabetes 2008;57:1983-1986
41. International HapMap project SNP rs13266634 genotype/allele frequencies [article online]. Available from: http://hapmap.ncbi.nlm.nih.gov/cgi-perl/snp- details-phase3?name=rs13266634&source=hapmap27-B36&tmpl=snp-details- phase3. Accessed 21 April 2012
42. Brorsson C, Vaziri-Sani F, Bergholdt R, Eising S, Nilsson A, Svensson J, et al. Correlations between islet autoantibody specificity and the SLC30A8 genotype with HLA-DQB1 and metabolic control in new onset type 1 diabetes. Autoimmunity 2011;44:107-114
43. Andersson C, Larsson K, Vaziri-Sani F, et al. The three ZNT8 autoantibody variants together improve the diagnostic sensitivity of childhood and adolescent type 1 diabetes. Autoimmunity 2011;44:394-405
44. Rolandsson O, Hägg E, Janer M, et al. High GAD65 autoantibody levels in nondiabetic adults are associated with HLA but not with CTLA-4 or INS VNTR. J Intern Med 2003;253:447-453 (Pubitemid 36418930)
45. 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
46. Egefjord L, Jensen JL, Bang-Berthelsen CH, et al. Zinc transporter gene expression is regulated by pro-inflammatory cytokines: a potential role for zinc transporters in beta-cell apoptosis? BMC Endocr Disord 2009;9:7
47. Keltner Z, Meyer JA, Johnson EM, Palumbo AM, Spence DM, Reid GE. Mass spectrometric characterization and activity of zinc-activated proinsulin C-peptide and C-peptide mutants. Analyst (Lond) 2010;135:278-288
48. Kyewski B, Taubert R. How promiscuity promotes tolerance: the case of myasthenia gravis. Ann N Y Acad Sci 2008;1132:157-162 (Pubitemid 351841368)
49. Giraud M, Taubert R, Vandiedonck C, et al. An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus. Nature 2007;448:934-937 (Pubitemid 47312776)