Association of CTLA-4 polymorphisms and clinical-immunologic characteristics at onset of type 1 diabetes mellitus in children

Human Immunology

Volumn 70, Issue 2, 2009, Pages 116-120

  Balic, Iván ^a   Angel, Bárbara ^a   Codner, Ethel ^b   Carrasco, Elena ^c   Pérez Bravo, Francisco ^a  

^a UNIVERSITY OF CHILE   (Chile)

^b UNIVERSITY OF CHILE   (Chile)

^c HOSPITAL SAN JUAN DE DIOS   (Chile)

Author keywords

Autoantibodies; CTLA 4 polymorphism; Cytokines; Type 1 diabetes

Indexed keywords

AUTOANTIBODY; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; GAMMA INTERFERON; GLUTAMATE DECARBOXYLASE 65; GLUTAMATE DECARBOXYLASE 65 ANTIBODY; PROTEIN TYROSINE PHOSPHATASE; PROTEIN TYROSINE PHOSPHATASE IA 2; TRANSFORMING GROWTH FACTOR BETA1; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; CHILE; CLINICAL FEATURE; CONTROLLED STUDY; DIABETIC KETOACIDOSIS; DNA POLYMORPHISM; EXON; FEMALE; GENE FREQUENCY; GENETIC RISK; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; MALE; ONSET AGE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK ASSESSMENT; SCHOOL CHILD;

ADOLESCENT; ANTIGENS, CD; AUTOANTIBODIES; CHILD; CHILD, PRESCHOOL; CYTOKINES; DIABETES MELLITUS, TYPE 1; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HISTOCOMPATIBILITY TESTING; HUMANS; INFANT; MALE; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 59649085777     PISSN: 01988859     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.humimm.2008.12.007     Document Type: Article

References (37)

1. Pugliese A. Genetics of type 1 diabetes. Endocrinol Metab Clin North Am 33 (2004) 1-16
2. Anjos S., and Polychronakos C. Mechanisms of genetic susceptibility to type 1 diabetes: Beyond HLA. Mol Gen Metab 81 (2004) 187-195
3. Bach J.F. Infections and autoimmune diseases. J Autoimmun 25 (2005) 74-80
4. Gale E.A. A missing link in the hygiene hypothesis?. Diabetologia 45 (2002) 588-594
5. Gale E.A. The rise of childhood type 1 diabetes in the twentieth century. Diabetes 51 (2002) 3353-3361
6. Hyoty H. Enterovirus infections and type 1 diabetes. Ann Med 34 (2002) 138-147
7. Myers M.A., Hettiarachchi K.D., Ludeman J.P., Wilson A.J., Wilson C.R., and Zimmet P.Z. Dietary microbial toxins and type 1 diabetes. Ann NY Acad Sci 1005 (2003) 418-422
8. Kavvoura F., and Loannidis J. CTLA-4 gene polymorphisms and susceptibility to type 1 diabetes mellitus: A HuGE review and meta-analysis. Am J Epidemiol 162 (2005) 3-16
9. Teft W., Kirchhof M., and Madrenas J. A molecular perspective of CTLA-4 function. Annu Rev Immunol 24 (2006) 65-97
10. Ueda H., Howson J.M., Esposito L., Heward J., Snook H., et al. Association of the T-cell regulatory gene CTLA-4 with susceptibility to autoimmune disease. Nature 423 (2003) 506-511
11. Vaidya B., and Pearce S. The emerging role of the CTLA-4 gene in autoimmune endocrinopathies. Euro J Endocrinol 150 (2004) 619-626
12. Kouki T., Gardine C.A., Yanagawa T., and Degroot L.J. Relation of three polymorphisms of the CTLA-4 gene in patients with Graves disease. J Endocrinol Invest 25 (2002) 208-213
13. Lee Y.J., Lo F.S., Shu S.G., Wang C.H., Huang C.Y., et al. The promoter region of the CTLA4 gene is associated with type 1 diabetes mellitus. J Pediatr Endocr Metab 14 (2001) 383
14. Marron M.P., Raffel L.J., Garchon H.J., Jacob C.O., Serrano-Rios M., et al. Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA-4 polymorphisms in multiple ethnic groups. Hum Mol Genet 6 (1997) 1275-1282
15. Turpeinen H., Laine A.P., Hermann R., Simell O., Veijola R., et al. A linkage analysis of the CTLA-4 gene region in Finnish patients with type 1 diabetes. Euro J Inmmunogenet 30 (2003) 289-293
16. Anjos S., Nguyen H., Ounissi-Benkalha H., Tessier M.C., and Polychronakos C.A. Common autoimmunity predisposing signal peptide variant of the cytotoxic T-lymphocyte antigen 4 results in inefficient glycosylation of the susceptibility allele. J Biol Chem 277 (2002) 46478-46486
17. Madrenas J., Chau L.A., Teft W.A., Wu P.W., Jussif J., et al. Conversion of CTLA-4 from inhibitor to activator of T cells with a bispecific tandem single-chain Fv ligand. J Immunol 172 (2004) 5948-5956
18. Valenzuela C.Y., Acuña M.P., and Harb Z. Sociogenetic gradient in the Chilean population. Rev Med Chil 115 (1987) 295-299
19. Bingley P.J., Bonifacio E., Mueller P.W., and participating laboratories. Diabetes Antibody Standardization Program: First assay proficiency evaluation. Diabetes 52 (2003) 1128-1136
20. Maier L.M., and Wicker L.S. Genetic susceptibility to type 1 diabetes. Curr Opin Immunol 17 (2005) 601-608
21. Bottini N., Vang T., Cucca F., and Mustelin T. Role of PTPN22 in type 1 diabetes and other autoimmune diseases. Semin Immunol 18 (2006) 204-207
22. Duffy D.L. Genetic determinants of diabetes are similarly associated with other immune-mediated diseases. Curr Opin Allergy Clin Immunol 7 (2007) 468-474
23. Pérez-Bravo F., Serrano-Rios M., Gutierrez-López M.D., Calvillán M., García de los Ríos M., Kocova M., Dorman J., and Trucco M. Genetic analysis of HLA DRB1, DQA1 and DQB1 alleles and susceptibility to type I (insulin-dependent) diabetes mellitus in Chilean subjects. Diabetologia 38 (1995) 378-379
24. García D., Angel B., Carrasco E., Albala C., Santos J.L., and Pérez-Bravo F. VDR polymorphisms influence the immune response in type 1 diabetic children from Santiago, Chile. Diab Res Clin Pract 77 (2007) 134-140
25. López T., García D., Angel B., Carrasco E., Codner E., Ugarte F., and Pérez-Bravo F. Asociación del polimorfismo Fok I del receptor de vitamina D (VDR) con niveles plasmáticos TGF-β1 e INF-γ en la diabetes mellitus tipo 1. Med Clin (Barcelona) 130 (2008) 81-84
26. Carrasco E., Pérez-Bravo F., Dorman J.S., Mondragón A., and Santos J.L. Increasing incidence of type 1 diabetes in population from Santiago of Chile: Trends in a period of 18 years (1986-2003). Diab Metab Res Rev 22 (2006) 34-37
27. van der Merwe P.A., and Davis S.J. Molecular interactions mediating T cell antigen recognition. Annu Rev Immunol 21 (2003) 659-684
28. Maurer M., Loserth S., Kolb-Maurer A., Ponath A., Wiese S., et al. A polymorphism in the human cytotoxic T-lymphocyte antigen 4 (CTLA4) gene (exon 1 +49) alters T-cell activation. Immunogenetics 54 (2002) 1-8
29. Kouki T., Sawai Y., Gardine C.A., Fisfalen M.E., Alegre M.L., and DeGroot L.J. 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 (2000) 6606-6611
30. Ligers A., Teleshova N., Masterman T., Huang W.X., and Hillert J. CTLA-4 gene expression is influenced by promoter and exon 1 polymorphisms. Genes Immun 2 (2001) 145-152
31. Wang J., Miao D., Babu S., Yu J., Barker J., et al. Prevalence of autoantibody-negative diabetes is not rare at all ages and increases with older age and obesity. J Clin Endocrinol Metab 92 (2007) 88-92
32. Gallardo T.V., Avila A., Unanue M., and Codner E. Fasting glucose versus oral glucose tolerance test for detection of glucose intolerance in obese children. Rev Med Chil 134 (2006) 1146-1152
33. Abe T., Takino H., Yamasaki H., Fujita N., Yamahuchi-Degawa M., et al. CTLA-4 gene polymorphism correlates with the mode of onset and presence of ICA512 Ab in Japanese type 1 diabetes. Diabetes Res Clin Pract 46 (1999) 169-175
34. Takara M., Komiya I., Kinjo I., Tomoyose T., Yamashiro S., et al. Association of CTLA-4 gene A/G polymorphism in Japanese type 1 diabetic patients with younger age of onset and autoimmune thyroid disease. Diabetes Care 23 (2000) 975-978
35. Zalloua P.A., Abchee A., Shbaklo H., Zreik T.G., Terwedow H., et al. Patients with early onset of type 1 diabetes have significantly higher GG genotype at position 49 of the CTLA4 gene. Hum Immunol 65 (2004) 719-724
36. Jonson C.O., Lernmark A., Ludvigsson J., Rutledge E.A., Hinkkanen A., and Faresjo M. The importance of CTLA-4 polymorphism and human leukocyte antigen genotype for the induction of diabetes-associated cytokine response in healthy school children. Pediatric Diab 8 (2007) 185-192
37. Kawasaki E., Imagawa A., Makino H., Uga M., Abiru N., et al. Differences in the contribution of CTLA4 gene to susceptibility to fulminant and type 1A diabetes in Japanese. Diabetes Care 31 (2008) 1608-1610