No Evidence of Association of CTLA-4 -318 C/T, 159 C/T, 3′ STR and SUMO4 163 AG Polymorphism with Autoimmune Diabetes

REFERENCES

• Atkinson M. A., Maclaren N. K. The pathogenesis of insulin-dependent diabetes mellitus. N. Engl. J. Med. 1994; 24: 1428–1436
   Google Scholar
• Bennett S. T., Lucassen A. M., Gough S. C., Powell E. E., Undlien D. E., Pritchard L. E., et al. Susceptibility to human type 1 diabetes at IDDM 2 determined by tandem repeat variation at the insulin gene minisatellite locus. Nature Genet. 1995; 9: 284–292
   PubMed Web of Science ®Google Scholar
• Bohren K. M., Nadkarni V., Song J. H., Gabbay K. H., Owerbach D. A M55V polymorphism in a novel SUMO gene (SUMO4) differentially activates heat shock transcription factors and is associated with susceptibility to type I diabetes mellitus. J. Biol. Chem. 2004; 25: 27233–27238
   Google Scholar
• Braun J., Donner H., Siegmund T., Walfish P. G., Usadel K. H., Badenhoop K. CTLA-4 promoter variants in patients with Graves' disease and Hashimoto's thyroiditis. Tissue Antigens 1998; 51(5)563–566
   Google Scholar
• Caputo M., Cerrone G. E., López A. P., González C., Massa C., Cédola N., et al. Genotipificación del gen HLA DQB1 en diabetes autoinmune del adulto (LADA). Medicina (B Aires) 2005; 65(3)235–240
   Google Scholar
• Caputo M., Cerrone G. E., Lopez A. P., Villalba A., Krochik G. A., Cedola F. N., Targovnik H. M., Frechtel G. D. Cytotoxic T lymphocyte antigen 4 heterozygous codon 49 A/G dimorphism is associated to latent autoimmune diabetes in adults (LADA). Autoimmunity 2005; 38(4)277–281
   PubMed Web of Science ®Google Scholar
• Cerrone G. E., Caputo M., Lopez A. P., Gonzalez C., Massa C., Cedola N., Frechtel G. D. Variable number of tandem repeats of the insulin gene determines susceptibility to latent autoimmune diabetes in adult. Mol. Diagn. 2004; 8: 43–49
   PubMedGoogle Scholar
• Chambers C. A., Krummel M. F., Boitel B., Hurwitz A., Sullivan T. J., Fournier S., et al. The role of CTLA-4 in the regulation and initiation of T-cell responses. Immunol. Rev. 1996; 153: 27–46
   PubMed Web of Science ®Google Scholar
• Chistiakov D. A., Savost'anov K. V., Nosikov V. V. CTLA4 gene polymorphisms are associated with, and linked to, insulin-dependent diabetes mellitus in a Russian population. BMC Genet. 2001; 2: 6, Epub 2001 Mar 27
   Google Scholar
• Cosentino A., Gambelunghe G., Tortoioli C., Falorni A. CTLA-4 gene polymorphism contributes to the genetic risk for latent autoimmune diabetes in adults. Ann. NY Acad. Sci. 2002; 958: 337–340
   PubMed Web of Science ®Google Scholar
• Davies J. L., Kawaguchi Y., Bennett S. T., Copeman J. B., Cordell H. J., Pritchard L. E., et al. A genome –wide search for human type 1 diabetes susceptibility genes. Nature 1994; 8: 130–136
   Google Scholar
• Gonzalez-Escribano M. F., Rodriguez R., Valenzuela A., Garcia A., Garcia-Lozano J. R., Nunez-Roldan A. CTLA4 polymorphisms in Spanish patients with rheumatoid arthritis. Tissue Antigens 1999; 53(3)296–300
   PubMedGoogle Scholar
• Guo D., Li M., Zhang Y., Yang P., Eckenrode S., Hopkins D., et al. A functional variant of SUMO4, a new I kappa B alpha modifier, is associated with type 1 diabetes. Nat. Genet. 2004; 36: 837–841
   PubMed Web of Science ®Google Scholar
• Hadj Kacem H., Bellassoued M., Bougacha-Elleuch N., Abid M., Ayadi H. CTLA-4 gene polymorphisms in Tunisian patients with Graves' disease. Clin. Immunol. 2001; 101(3)361–365
   Google Scholar
• Heward J. M., Allahabadia A., Carr-Smith J., Daykin J., Cockram C. S., Gordon C., Barnett A. H., Franklyn J. A., Gough S. C. No evidence for allelic association of a human CTLA-4 promoter polymorphism with autoimmune thyroid disease in either population-based case-control or family-based studies. Clin. Endocrinol. (Oxf.) 1998; 49(3)331–334
   Google Scholar
• Hudson L. L., Rocca K., Song Y. W., Pandey J. P. CTLA-4 gene polymorphisms in systemic lupus erythematosus: a highly significant association with a determinant in the promoter region. Hum. Genet. 2002; 111(4–5)452–455, Epub 2002 Aug 21.
   PubMed Web of Science ®Google Scholar
• Kelly M. A., Rayner M., Mijovic C. H, Barnett A. H. Molecular aspects of type 1 diabetes. Mol. Pathol. 2003; 56(1)1–10
   Google Scholar
• Kotsa K., Watson P. F., Weetman A. P. A CTLA-4 gene polymorphism is associated with both Graves disease and autoimmune hypothyroidism. Clin. Endocrinol. (Oxf.) 1997; 46(5)551–554
   PubMedGoogle Scholar
• Kouki T., Gardine C. A., Yanagawa T., Degroot L. J. Relation of three polymorphisms of the CTLA-4 gene in patients with Graves' disease. J. Endocrinol. Invest. 2002; 25(3)208–213
   Google Scholar
• Lee Y. J., Lo F. S., Shu S. G., Wang C. H., Huang C. Y., Liu H. F., Wu C. C., Yang T. Y., Chang J. G. The promoter region of the CTLA4 gene is associated with type 1 diabetes mellitus. J. Pediatr. Endocrinol. Metab. 2001; 14(4)383–388
   Google Scholar
• Marron M. P., Raffel L. J., Garchon H. J., Jacob C. O., Serrano-Rios M., Martinez Larrad M. T., Teng W. P., Park Y., Zhang Z. X., Goldstein D. R., Tao Y. W., Beaurain G., Bach J. F., Huang H. S., Luo D. F., Zeidler A., Rotter J. I., Yang M. C., Modilevsky T., Maclaren N. K., She J. X. Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups. Hum. Mol. Genet. 1987; 6: 1275–1282
   Google Scholar
• Marron M. P., Zeidler A., Raffel L. J., Eckenrode S. E., Yang J. J., Hopkins D., et al. Genetic and physical mapping of a type 1 diabetes susceptibility gene (IDDM12) to a 100-kb phagemid artificial chromosome clone containing D2S72-CTLA4-D2S105 on chromosome 2q33. Diabetes 2000; 49: 492–499
   PubMed Web of Science ®Google Scholar
• Murray M. G., Thompson W. F. Rapid isolation of high molecular weight plant DNA. Nucleic Acid Res. 1980; 8: 4321–4325
   PubMed Web of Science ®Google Scholar
• Muller S., Hoege C., Pyrowolakis G., Jentsch S. SUMO, ubiquitin's mysterious cousin. Nat. Rev. Mol. Cell Biol. 2001; 2: 202–210
   PubMed Web of Science ®Google Scholar
• Nistico L., Buzzetti R., Pritchard L. E., Van der Auwera B., Giovannini C., Bosi E., Larrad M. T., Rios M. S., Chow C. C., Cockram C. S., Jacobs K., Mijovic C., Bain S. C., Barnett A. H., Vandewalle C. L., Schuit F., Gorus F. K., Tosi R., Pozzilli P., Todd J. A. The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. Hum. Mol. Genet. 1996; 5: 1075–1080
   PubMed Web of Science ®Google Scholar
• Noso S., Ikegami H., Fujisawa T., Kawabata Y., Asano K., Hiromine Y., Tsurumaru M., Sugihara S., Lee I., Kawasaki E., Awata T., Ogihara T. Genetic heterogeneity in association of the SUMO4 M55V variant with susceptibility to Type 1 Diabetes. Diabetes 2005; 54(12)3582–3586
   Google Scholar
• Osei-Hyiaman D., Hou L., Zhiyin R., Zhiming Z., Yu H., Amankwah A. A., Harada S. Association of a novel point mutation (C159G) of the CTLA4 gene with type 1 diabetes in West Africans but not in Chinese. Diabetes 2001; 50(9)2169–2171
   Google Scholar
• Owerbach D., Gabbay K. H. The search for IDDM susceptibility genes: the next generation. Diabetes 1996; 45: 544–551, Review
   PubMedGoogle Scholar
• Park Y., Park S., Kang J., Yang S., Kim D. Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes. Nat. Genet. 2005; 37: 112
   Google Scholar
• Pugliese A., Zeller M., Fernandez A., Jr., Zalcberg L. J., Bartlett R. J., Ricordi C., et al. 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. 1997; 15: 293–297
   PubMed Web of Science ®Google Scholar
• Qu H., Bharaj B., Liu X. Q., Curtis J. A., Newhook L. A., Paterson A. D., et al. Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes. Nat. Genet. 2005; 37: 111–112
   Google Scholar
• Sanjeevi C. B., Falorni A., Kockum I., Hagopian W. A., Lernmark A. HLA and glutamic acid decarboxylase in human insulin-dependent diabetes mellitus. Diabetic Med. 1996; 13: 209–217, Review
   PubMed Web of Science ®Google Scholar
• Shimada A., Imazu Y., Morinaga S., Funae O., Kasuga A., Atsumi Y., et al. T cell insulitis found in anti GAD 65+ diabetes with residual ß cell function. Diabetes Care 1999; 22: 615–617
   PubMed Web of Science ®Google Scholar
• Smyth D. J., Howson J. M., Lowe C. E., Walker N. M., Lam A. C., Nutland S., et al. Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes. Nat. Genet. 2005; 37: 110–111
   Google Scholar
• Tuomi T., Carlsson A., Li H., Isomaa B., Miettinen A., Nilsson A., et al. Clinical and genetic characteristics of type 2 diabetes with and without GAD antibodies. Diabetes 1999; 48: 150–157
   PubMed Web of Science ®Google Scholar
• Uchigata Y., Okada T., Gong J. S., Yamada Y., Iwamoto Y., Tanaka M. A mitochondrial genotype associated with the development of autoimmune-related type 1 diabetes. Diabetes Care 2002; 11: 2106
   Google Scholar
• Ueda H., Howson J. M., Esposito L., Heward J., Snook H., Chamberlain G., et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003; 29: 506–511
   Google Scholar
• Vaidya B., Oakes E. J., Imrie H., Dickinson A. J., Perros P., Kendall-Taylor P., Pearce S. H. CTLA4 gene and Graves' disease: association of Graves' disease with the CTLA4 exon 1 and intron 1 polymorphisms, but not with the promoter polymorphism. Clin. Endocrinol. (Oxf.) 2003; 58(6)732–735
   PubMed Web of Science ®Google Scholar
• Wang X. B., Kakoulidou M., Giscombe R., Qiu Q., Huang D., Pirskanen R., Lefvert A. K. Abnormal expression of CTLA-4 by T cells from patients with myasthenia gravis: effect of an AT-rich gene sequence. J. Neuroimmunol. 2002; 130(1–2)224–232
   PubMed Web of Science ®Google Scholar
• Wang C. Y., Yang P., She J. X. Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 Diabetes. Nat. Genet. 2005; 37: 112–113
   Google Scholar
• Wang X. B., Zhao X., Giscombe R., Lefvert A. K. A CTLA-4 gene polymorphism at position -318 in the promoter region affects the expression of protein. Genes Immun. 2002; 3(4)233–234
   Google Scholar
• Yanagawa T., Hidaka Y., Guimaraes V., Soliman M., DeGroot L. J. CTLA-4 gene polymorphism associated with Graves' disease in a Caucasian population. J. Clin. Endocrinol. Metab. 1995; 80(1)41–45
   PubMedGoogle Scholar
• Zimmet P. Z., Tuomi T., Mackay I. R., Rowley M. J., Knowles W., Cohen M., et al. Latent autoimmune diabetes mellitus in adults (LADA), the role of antibodies to glutamic acid decarboxylase in diagnosis and prediction of insulin dependency. Diabet. Med. 1994; 11: 299–303
   PubMed Web of Science ®Google Scholar