Polymorphism analysis of the CTLA-4 gene in paracoccidioidomycosis patients

Memorias do Instituto Oswaldo Cruz

Volumn 106, Issue 2, 2011, Pages 220-226

  Lozano, Viviane F ^a   Lins, Tulio C ^a,b   Teixeira, Marcus M ^c   Vieira, Rodrigo G ^b   Blotta, Maria Heloisa SL ^d   Goes, Alfredo M ^e   Silva, Izabel Cristina R ^a   Pereira, Rinaldo W ^b   Bocca, Anamelia L ^a,c   Felipe, Maria Sueli S ^a,c  

^a Faculdade de Medicina   (Brazil)

^b UNIVERSIDADE CATÓLICA DE BRASÍLIA   (Brazil)

^c INSTITUTO DE CIÊNCIAS BIOLÓGICAS   (Brazil)

^d UNIVERSITY OF CAMPINAS   (Brazil)

^e FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

Author keywords

Admixture; Brazilian population; Haplotypes; Paracoccidioides brasiliensis; PCM; Single nucleotide polymorphism

Indexed keywords

PARACOCCIDIOIDES BRASILIENSIS;

EID: 79955381418     PISSN: 00740276     EISSN: 16788060     Source Type: Journal    
DOI: 10.1590/S0074-02762011000200017     Document Type: Article

References (45)

1. Balbi G, Ferrera F, Rizzi M, Piccioli P, Morabito A, Cardamone L, Ghio M, Palmisano GL, Carrara P, Pedemonte S, Sessarego M, De Angioletti M, Notaro R, Indiveri F, Pistillo MP 2007. Association of -318 C/T and +49 A/G cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphisms with a clinical subset of Italian patients with systemic sclerosis. Clin Exp Immunol 149: 40-47.
2. Barreto M, Santos E, Ferreira R, Fesel C, Fontes MF, Pereira C, Martins B, Andreia R, Viana JF, Crespo F, Vasconcelos C, Ferreira C, Vicente AM 2004. Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus. Eur J Hum Genet 12: 620-626.
3. Barrett JC, Fry B, Maller J, Daly MJ 2005. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
4. Blomhoff A, Lie BA, Myhre AG, Kemp EH, Weetman AP, Akselsen HE, Huseby ES, Undlien DE 2004. Polymorphisms in the cyto-toxic T lymphocyte antigen-4 gene region confer susceptibility to Addison's disease. J Clin Endocrinol Metab 89: 3474-3476.
5. Bocca AL, Hayashi EE, Pinheiro AG, Furlanetto AB, Campanelli AP, Cunha FQ, Figueiredo F 1998. Treatment of Paracoccidioides brasiliensis-infected mice with a nitric oxide inhibitor prevents the failure of cell-mediated immune response. J Immunol 161: 3056-3063.
6. Bozzi A, Pereira PP, Reis BS, Goulart MI, Pereira MC, Pedroso EP, Leite MF, Goes AM 2006. Interleukin-10 and tumor necrosis factor-alpha single nucleotide gene polymorphism frequency in paracoccidioidomycosis. Hum Immunol 67: 931-939.
7. Bozzi A, Reis BS, Prado FL, Pedroso EP, Leite MF, Goes AM 2004. Modulation of CD28 and CD86 expression in patients with para-coccidioidomycosis in different periods of treatment. Scand J Immunol 60: 500-505.
8. Butty V, Roy M, Sabeti P, Besse W, Benoist C, Mathis D 2007. Signatures of strong population differentiation shape extended haplo-types across the human CD28, CTLA4 and ICOS costimulatory genes. Proc Natl Acad Sci USA 104: 570-575.
9. Campanelli AP, Martins GA, Souto JT, Pereira MS, Livonesi MC, Martinez R, Silva JS 2003. Fas-Fas ligand (CD95-CD95L) and cytotoxic T lymphocyte antigen-4 engagement mediate T cell un-responsiveness in patients with paracoccidioidomycosis. J Infect Dis 187: 1496-1505.
10. Carvalho A, Cunha C, Pasqualotto AC, Pitzurra L, Denning DW, Ro-mani L 2010. Genetic variability of innate immunity impacts human susceptibility to fungal diseases. Int J Infect Dis 14: 460-468.
11. Cavassani KA, Campanelli AP, Moreira AP, Vancim JO, Vitali LH, Mamede RC, Martinez R, Silva JS 2006. Systemic and local characterization of regulatory T cells in a chronic fungal infection in humans. J Immunol 177: 5811-5818.
12. Dariavach P, Mattéi MG, Golstein P, Lefranc MP 1988. Human Ig su-perfamily CTLA-4 gene: chromosomal localization and identity of protein sequence between murine and human CTLA-4 cyto-plasmic domains. Eur J Immunol 18: 1901-1905.
13. Deichmann K, Heinzmann A, Brüggenolte E, Forster J, Kuehr J 1996. An Mse I RFLP in the human CTLA-4 promotor. Biochem Bio-phys Res Commun 225: 817-818.
14. Franco M 1987. Host-parasite relationships in paracoccidioidomyco-sis. J Med Vet Mycol 25: 5-18.
15. Ghaderi A, Yeganeh F, Kalantari T, Talei AR, Pezeshki AM, Doroud-chi M, Dehaghani AS 2004. Cytotoxic T lymphocyte antigen-4 gene in breast cancer. Breast Cancer Res Treat 86: 1-7.
16. Goldstein DB 2009. Common genetic variation and human traits. N Engl J Med 360: 1696-1698.
17. Gough SC, Walker LS, Sansom DM 2005. CTLA-4 gene polymorphism and autoimmunity. Immunol Rev 204: 102-115.
18. Guzman VB, Morgun A, Shulzhenko N, Mine KL, Gonçalves-Primo A, Musatti CC, Gerbase-Delima M 2005. Characterization of CD28, CTLA4 and ICOS polymorphisms in three Brazilian ethnic groups. Hum Immunol 66: 773-776.
19. Han S, Li Y, Mao Y, Xie Y 2005. Meta-analysis of the association of CTLA-4 exon-1 +49A/G polymorphism with rheumatoid arthritis. Hum Genet 118: 123-132.
20. Harper K, Balzano C, Rouvier E, Mattéi MG, Luciani MF, Golstein P 1991. CTLA-4 and CD28 activated lymphocyte molecules are closely related in both mouse and human as to sequence, message expression, gene structure and chromosomal location. J Immunol 147: 1037-1044.
21. Holopainen P, Naluai AT, Moodie S, Percopo S, Coto I, Clot F, Ascher H, Sollid L, Ciclitira P, Greco L, Clerget-Darpoux F, Partanen J, Members of the European Genetics Cluster on Coeliac Disease 2004. Candidate gene region 2q33 in European families with coe-liac disease. Tissue Antigens 63: 212-222.
22. Kouki T, Sawai Y, Gardine CA, Fisfalen ME, Alegre ML, DeGroot LJ 2000. CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graveś disease. J Immunol 165: 6606-6611.
23. Kristiansen OP, Larsen ZM, Pociot F 2000. CTLA-4 in autoimmune diseases - a general susceptibility gene to autoimmunity? Genes Immun 1: 170-184.
24. Lee YH, Harley JB, Nath SK 2005. CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis. Hum Genet 116: 361-367.
25. Ligers A, Teleshova N, Masterman T, Huang WX, Hillert J 2001. CTLA-4 gene expression is influenced by promoter and exon 1 polymorphisms. Genes Immun 2: 145-152.
26. Ling V, Wu PW, Finnerty HF, Agostino MJ, Graham JR, Chen S, Jus-siff JM, Fisk GJ, Miller C P, Collins M 2001. Assembly and annotation of human chromosome 2q33 sequence containing the CD28, CTLA4, and ICOS gene cluster: analysis by computational, comparative and microarray approaches. Genomics 78: 155-168.
27. Lins TC, Nogueira LR, Lima RM, Gentil P, Oliveira RJ, Pereira RW 2007. A multiplex single-base extension protocol for genotyping Cdx2, FokI, BsmI, ApaI and TaqI polymorphisms of the vitamin D receptor gene. Genet Mol Res 6: 316-324.
28. Lins TC, Vieira RG, Abreu BS, Grattapaglia D, Pereira RW 2010. Genetic composition of Brazilian population samples based on a set of twenty-eight ancestry informative SNPs. Am J Hum Biol 22: 187-192.
29. Lins TC, Vieira RG, Grattapaglia D, Pereira RW 2010. Allele and haplotype frequency distribution in PTPN22 gene across variable ethnic groups: implications for genetic association studies for autoimmune diseases. Autoimmunity 43: 308-316.
30. Martins GA, Tadokoro CE, Silva RB, Silva JS, Rizzo LV 2004. CT-LA-4 blockage increases resistance to infection with the intracel-lular protozoan Trypanosoma cruzi. J Immunol 172: 4893-4901.
31. Moreno Lima R, Silva de Abreu B, Gentil P, Cesar de Lima Lins T, Grattapaglia D, Pereira RW, Jacó de Oliveira R 2007. Lack of association between vitamin D receptor genotypes and haplotypes with fat-free mass in postmenopausal Brazilian women. J Geron-tol A Biol Sci Med Sci 62: 966-972.
32. Nisticò L, Buzzetti R, Pritchard LE, van der Auwera B, Giovannini C, Bosi E, Larrad MT, Rios MS, Chow CC, Cockram CS, Jacobs K, Mijovic C, Bain SC, Barnett AH, Vandewalle CL, Schuit F, Gorus FK, Tosi R, Pozzilli P, Todd JA 1996. The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. Hum Mol Genet 5: 1075-1080.
33. Pritchard JK, Stephens M, Donnelly P 2000. Inference of population structure using multilocus genotype data. Genetics 155: 945-959.
34. Restrepo A 1985. The ecology of Paracoccidioides brasiliensis: a puzzle still unsolved. Sabouraudia 23: 323-334.
35. Rosenberg NA, Nordborg M 2006. A general population-genetic model for the production by population structure of spurious gen-otype-phenotype associations in discrete, admixed or spatially distributed populations. Genetics 173: 1665-1678.
36. Silva CL, Figueiredo F 1991. Tumor necrosis factor in paracoccid-ioidomycosis patients. J Infect Dis 164: 1033-1034.
37. Smith MW, Patterson N, Lautenberger JA, Truelove AL, McDonald GJ, Waliszewska A, Kessing BD, Malasky MJ, Scafe C, Le E, De Jager PL, Mignault AA, Yi Z, De The G, Essex M, Sankale JL, Moore JH, Poku K, Phair JP, Goedert JJ, Vlahov D, Williams SM, Tishkoff SA, Winkler CA, De La Vega FM, Woodage T, Snin-sky JJ, Hafler DA, Altshuler D, Gilbert DA, O'Brien SJ, Reich D 2004. A high-density admixture map for disease gene discovery in African Americans. Am J Hum Genet 74: 1001-1013.
38. Su TH, Chang TY, Lee YJ, Chen CK, Liu HF, Chu CC, Lin M, Wang PT, Huang WC, Chen TC, Yang YC 2007. CTLA-4 gene and susceptibility to human papillomavirus-16-associated cervical squamous cell carcinoma in Taiwanese women. Carcinogenesis 28: 1237-1240.
39. Thio CL, Mosbruger TL, Kaslow RA, Karp CL, Strathdee SA, Vla-hov D, O'Brien SJ, Astemborski J, Thomas DL 2004. Cytotoxic T-lymphocyte antigen 4 gene and recovery from hepatitis B virus infection. J Virol 78: 11258-11262.
40. Tomer Y, Greenberg DA, Barbesino G, Concepcion E, Davies TF 2001. CTLA-4 and not CD28 is a susceptibility gene for thyroid autoanti-body production. J Clin Endocrinol Metab 86: 16 87-1693.
41. Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G, Rainbow DB, Hunter KM, Smith AN, di Genova G, Herr MH, Dahlman I, Payne F, Smyth D, Lowe C, Twells RC, Howlett S, Healy B, Nutland S, Rance HE, Everett V, Smink LJ, Lam AC, Cordell HJ, Walker NM, Bordin C, Hulme J, Motzo C, Cucca F, Hess JF, Metzker ML, Rogers J, Gregory S, Allahabadia A, Nithiyananthan R, Tuomilehto-Wolf E, Tuomilehto J, Bingley P, Gillespie KM, Undlien DE, Rønningen KS, Guja C, Ionescu-Tîrgovişte C, Savage DA, Maxwell AP, Carson DJ, Patterson CC, Franklyn JA, Clayton DG, Peterson LB, Wicker LS, Todd JA, Gough SC 2003. Association of the T-cell regulatory gene CTLA-4 with susceptibility to autoimmune disease. Nature 423: 506-511.
42. van Belzen MJ, Mulder CJ, Zhernakova A, Pearson PL, Houwen RH, Wijmenga C 2004. CTLA4 +49 A/G and CT60 polymorphisms in Dutch coeliac disease patients. Eur J Hum Genet 12: 782-785.
43. Wang XB, Kakoulidou M, Giscombe R, Qiu Q, Huang D, Pirskanen R, Lefvert AK 2002. Abnormal expression of CTLA-4 by T cells from patients with myasthenia gravis: effect of an AT-rich gene sequence. J Neuroimmunol 130: 224-232.
44. Yanagawa T, Hidaka Y, Guimaraes V, Soliman M, DeGroot LJ 1995. CTLA-4 gene polymorphism associated with Graves' disease in a Caucasian population. J Clin Endocrinol Metab 80: 41-45.
45. Zaletel K, Krhin B, Gaberscek S, Hojker S 2006. Thyroid autoanti-body production is influenced by exon 1 and promoter CTLA-4 polymorphisms in patients with Hashimoto's thyroiditis. Int J Im-munogenet 33: 87-91.