Type 1 diabetes susceptibility determined by HLA alleles and CTLA-4 and insulin genes polymorphisms in Brazilians;Suscetibilidade ao diabetes tipo 1 determinada por alelos de HLA e polimorfismos nos genes CTLA-4 e insulina em brasileiros

Arquivos Brasileiros de Endocrinologia e Metabologia

Volumn 53, Issue 3, 2009, Pages 368-373

  Ferreira, Alessandro Clayton Souza ^a,b   Gomes, Karina Braga ^a   Sampaio, Ivan Barbosa Machado ^a   Pardini, Victor Cavalcanti ^a,b   Godard, Ana Lucia Brunialti ^a  

^a FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

^b Instituto Hermes Pardini   (Brazil)

Author keywords

CTLA 4; Discriminant factor analysis; HLA; Insulin gene; T1ADM

Indexed keywords

EID: 68249155100     PISSN: 00042730     EISSN: 16779487     Source Type: Journal    
DOI: 10.1590/s0004-27302009000300012     Document Type: Article

References (45)

1. Atkinson MA, Maclaren NK. The pathogenesis of insulin-dependent diabetes mellitus. N. Engl J Med. 1994;331:1428-36.
2. Onkamo P, Vaananan S, Karvonen M, Tuomilehto J. Worldwide increase in incidence of type I diabetes - the analysis of the data on published incidence trends. Diabetologia. 1999;42:1395-03.
3. Tuomilehto J, Virtala E, Karvonen M, Lounamaa R, Pitkaniemi J, Reunanen A, et al. Increase in incidence of insulin-dependent diabetes mellitus among children in Finland. Int J Epidemiol. 1995;24(5):984-92.
4. Thomson G, Valdes AM, Noble JA, Kockum I, Grote MN, Najman J, et al. Relative predispositional effects of HLA class II DRB1-DQB1 haplotypes and genotypes on type 1 diabetes: a meta-analysis. Tissue Antigens. 2007;70(2):110-27.
5. Abiru N, Kawasaki E, Eguch K. Current knowledge of Japanese type 1 diabetic syndrome.Diabetes Metab Res Rev. 2002;18(5):357-66. Review.
6. Ferreira SR, Franco LJ, Vivolo MA, Negrato CA, Simoes AC, Ventureli CR. Population-based incidence of IDDM in the state of Sao Paulo, Brazil. Diabetes Care. 1993;16(5):701-4.
7. Lisboa HR, Graebin R, Butzke L, Rodrigues CS. Incidence of type 1 diabetes mellitus in Passo Fundo, RS, Brazil. Braz J Med Biol Res. 1998;31(12):1553-6.
8. Singal DP, Blajchman MA. Histocompatibility (HL-A) antigens, lynphotoxic antibodies and tissue antibodies in patients with diabetes mellitus. Diabetes. 1973;22(6):429-32.
9. Noble JA, Valdes AM, Cook M, Klitz W, Thomson G, Erlich HA. The role of HL-A class II genes in insulin-dependent diabetes mellitus: molecular analysis of 180 Caucasian, multiplex families. Am J Hum Genet. 1996;59(5):1134-48.
10. Davies JL, Kawaguchi Y, Bennett ST, Copeman JB, Cordell HJ, Pritcherd LE, et al. A genome-wide search for human type 1 diabetes susceptibility genes. Nature. 1994;371(6493):130-6.
11. Onegut-Gumuscu S, Concannon P. Mapping genes for autoimmunity in humans: Type 1 diabetes as a model. Immunol Rev. 2002;190:182-94.
12. Dariavach P, Mattei MG, Golstein P, Lefranc MP. Human Ig superfamily CTLA4 gene: chromosomal localization and identity of protein sequence between murine and human CTLA4 cytoplasmatic domains. Eur J immnogenet. 1998;18:1901-5.
13. Robey E, Allison JP. T-cell activation: integration of signals from the antigen receptor and costimulatory molecules. Immunol Today. 1995;16(7):306-9.
14. Gribben JG, Feeman GJ, Boussiotis VA, Rennert P, JellisCL, Greenfield E, et al. CTLA4 mediates antigen-specific apoptosis of human T Cells. Proc Natl Acad Sci USA. 1995;92(3):811-5.
15. Zalloua PA, Abchee A, Shbaklo H, Zreik TG, Terwedow H, Halaby G, Azar ST. Patients with early onset of type 1 diabetes have significantly higher GG genotype at position 49 of the CTLA4 gene. Hum Immunol. 2004;65(7):719-24.
16. Copeman JB, Cucca F, Heame CM, Cornall RJ, Reed PW, Renningen KS, et al. Linkage disequilibrium mapping of type I diabetes susceptibility gene (IDDM7) to chromosome 2q31-q33. Nat Gen. 1995;9(1):80-5.
17. Marron MP, Raffel LJ, Garchon H-J, Jacob CO, Serrano-Rios M, Martinez LMT, et al. Insulin dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphism in multiple ethnic groups. Hum Mol Gent. 1997;6:1275-82.
18. Kikuoka N, Sugihara S, Yanagawa T, Ikezaki A, Kim HS, Matsuoka H, et al. T lymphocyte antigen 4 gene polymorphism confers susceptibility to type 1 diabetes in Japanese children: analysis of association with HLA genotypes and autoantibodies. Clin Endocrinol 2001;55(5):597-603.
19. Chistiakov DA, Savost'anov KV, Nosikov VV. CTLA4 gene polymorphisms are associated with, and linked to, insulin-dependent diabetes mellitus in a Russian population. BMC Genet. 2001;2(1):6.
20. Lucassen AM, Julier C, Beressi J-P, Boitard C, Froguet P, Lathrop M, et al. Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR. Nature Genet. 1993;4:305-10.
21. Stead JDH, Buard J, Todd JA, Jeffreys AJ. Influence of allele line-age on the role of the insulin minisatellite in susceptibility to type 1 diabetes. Hum Mol Genet. 2000;9(20):2929-35.
22. Haller K, Kisand K, Nemvalts V, Laine AP, Ilonen J, Uibo R. Type 1 diabetes is insulin -2221 MspI and CTLA-4+49 A/G polymorphism dependent. Eur J Clin Invest. 2004;34(8):543-8.
23. Laine AP, Nejentsev S, Veijola R, Korpinen E, Sjoroos M, Simell O, et al. A linkage study of 12 IDDM susceptibility loci in the Finnish population. Diabetes Metab Res Rev. 2004;20(2):144-9.
24. Laine AP, Hermann R, Knip M, Simell O, Akerblom HK, Ilonen J. The human leukocyte antigen genotype has a modest effect on the insulin gene polymorphism-associated susceptibility to type 1 diabetes in the Finnish population. Tissue Antigens. 2004;63(1):72-4.
25. Haller K, Kisand K, Pisarev H, Salur L, Laisk T, Nemvalts V, et al. Insulin gene VNTR, CTLA-4+49A/G and HLA-DQB1 alleles distinguish latent autoimmune diabetes in adults from type 1 diabetes and from type 2 Diabetes group. Tissue Antigens. 2007;69(2):121-7.
26. Alves-Silva J, da Silva Santos M, Guimaraes PE, Ferreira AC, Bandelt HJ, Pena SD, et al. The ancestry of Brazilian mtDNA lineages. Am J Hum Genet. 2000;67(2):444-61.
27. Fernandes AP, Louzada-Junior P, Foss MC, Donadi EA. HLA-DRB1, DQB1, and DQA1 allele profile in Brazilian patients with type 1 diabetes mellitus. Ann N Y Acad Sci. 2002;958:305-8.
28. Volpini WM, Testa GV, Marques SB, Alves LI, Silva ME, Dib AS, et al. Family-based association of HLA class II alleles and haplotypes with type I diabetes in Brazilians reveals some characteristics of a highly diversified population. Hum Immunol. 2001;62(11):1226-33.
29. Hauache OM, Reis AF, Oliveira CS, Vieira JG, Sjöroos M, Ilonen J. Estimation of diabetes risk in Brazilian population by typing for polymorphisms in HLA-DR-DQ, INS and CTLA-4 genes. Dis Markers. 2005;21(3):139-45.
30. Marques SB, Volpini W, Caillat-Zucman S, Lieber SR, Pavin EJ, Persoli LB. Distribution of HLA-DRB1 alleles in a mixed population with insulin-dependent diabetes mellitus from the southeast of Brazil. Braz J Med Biol Res. 1998;31(3):365-8.
31. Eizirik DL, Monteiro CM, Voltarelli JC, Foss MC. Frequency of HLA antigens in a Brazilian type I diabetic population. Braz J Med Biol Res. 1987;20(5):533-7.
32. Gomes MB, Ruzany F, Quadra AA, Sarno EN, Arduino F. Histocompatibility antigens and insulin-dependent diabetes: a study of 20 Brazilian families. Braz J Med Biol Res. 1981;14(6):379-81.
33. Soini E, Kojola H. Time-resolved fluorometer for lanthanide chelates. A new generation of non-isotopic immunoassays. Clin. Chem. 1983;29:65-8.
34. Hemmilä I, Dakubu S, Mukkala VM, Siitari H, Lövgren T. Europium as a label in time-resolved immunofluorometric assays. Anal. Biochem. 1984;137:335-43.
35. Turpeinen H, Laine AP, Hermann R, Simell O, Veijola R, Knip M, et al. A linkage analysis of the CTLA4 gene region in Finnish patients with type 1 diabetes. Eur J Immunogenet. 2003;30(4):289-93.
36. Lee YJ, Lo FS, Shu SG, Wang CH, Huang CY, Liu HF, et al. The promoter region of the CTLA4 gene is associated with type 1 diabetes mellitus. J Pediatr Endocrinol Metab. 2001;14(4):383-8.
37. Bouqbis L, Izaabel H, Akhayat O, Perez-Lezaun A, Calafell F, Bertranpetit J, et al. Association of the CTLA4 promoter region (-1661G allele) with type 1 diabetes in the South Moroccan population. Genes Immun. 2003;4(2):132-7.
38. Bittencourt PL, Palacios SA, Farias AQ, Abrantes-Lemos CP, Cancado EL, Carrilho FJ, et al. Analysis of major histocompatibility complex and CTLA-4 alleles in Brazilian patients with primary biliary cirrhosis. J Gastroenterol Hepatol. 2003;18(9):1061-6.
39. Bittencourt PL, Palacios SA, Cancado EL, Porta G, Carrilho FJ, Laudanna AA, et al. Cytotoxic T lymphocyte antigen-4 gene polymorphisms do not confer susceptibility to autoimmune hepatitis types 1 and 2 in Brazil. Am J Gastroenterol. 2003;98(7):1616-20.
40. Djilali-Saiah I, Ouellette P, Caillat-Zucman S, Debray D, Kohn JI, Alvarez F. CTLA-4/CD 28 region polymorphisms in children from families with autoimmune hepatitis. Hum Immunol. 2001;62(12):1356-62.
41. Agarwal K, Czaja AJ, Jones DE, Donaldson PT. Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphisms and susceptibility to type 1 autoimmune hepatitis. Hepatology. 2000;31(1):49-53.
42. Petersen JS, Karlsen AE, Markholst H, Worsaae A, Dyrberg T, Michelsen B. Neonatal tolerization with glutamic acid decarboxylase but not with bovine serum albumin delays the onset of diabetes in NOD mice. Diabetes. 1994;43(12):1478-84.
43. Kaufman DL, Clare-Salzler M, Tian J, Forsthuber T, Ting GS, Robinson P, et al. Spontaneous loss of T-cell tolerance to glutamic acid decarboxylase in murine insulin-dependent diabetes. Nature. 1993;366(6450):69-72.
44. Bretzel RG, Eckhard M, Brendel MD. Pancreatic islet and stem cell transplantation: new strategies in cell therapy of diabetes mellitus. Panminerva Med. 2004;46(1):25-42. Review.
45. Street CN, Sipione S, Helms L, Binette T, Rajotte RV, Bleackley RC, et al. Stem cell-based approaches to solving the problem of tissue supply for islet transplantation in type 1 diabetes. Int J Bio chem Cell Biol. 2004;36(4):667-83.