Association of MASP2 polymorphisms and protein levels with rheumatic fever and rheumatic heart disease

Human Immunology - Tập 75 - Trang 1197-1202 - 2014
Sandra Jeremias dos Santos Catarino1, Angelica Beate Winter Boldt1,2, Marcia Holsbach Beltrame1, Renato Mitsunori Nisihara1, Marcelo Derbli Schafranski3, Iara Jose de Messias-Reason1
1Laboratório de Imunopatologia Molecular, Departamento de Patologia Médica, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil
2Departamento de Genética, Universidade Federal do Paraná, Curitiba, Brazil
3Departamento de Medicina, Universidade Estadual de Ponta Grossa, Paraná, Brazil

Tài liệu tham khảo

Chang, 2011, Cutting edge issues in rheumatic fever, Clin Rev Allergy Immunol, 1 Burke, 2014, Diagnostic criteria of acute rheumatic fever, Autoimmun Rev, 13, 503, 10.1016/j.autrev.2014.01.036 Guilherme, 2011, Rheumatic heart disease: mediation by complex immune events, Adv Clin Chem, 53, 31, 10.1016/B978-0-12-385855-9.00002-3 Tibazarwa, 2008, Incidence of acute rheumatic fever in the world: a systematic review of population-based studies, Heart, 94, 1534, 10.1136/hrt.2007.141309 Carapetis, 2005, The global burden of group A streptococcal diseases, Lancet Infect Dis, 5, 685, 10.1016/S1473-3099(05)70267-X Kumar, 2013, Rheumatic fever & rheumatic heart disease: the last 50years, Indian J Med Res, 137, 643 Barbosa, 2009, Diretrizes brasileiras para o diagnóstico, tratamento e prevenção da febre reumática, Arq Bras Cardiol, 93, 1 Mayilyan, 2012, Complement genetics, deficiencies, and disease associations, Protein Cell, 3, 487, 10.1007/s13238-012-2924-6 Stäger, 2003, Natural antibodies and complement are endogenous adjuvants for vaccine-induced CD8+ T-cell responses, Nat Med, 9, 1287, 10.1038/nm933 Degn, 2011, Disease-causing mutations in genes of the complement system, Am J Hum Genet, 88, 689, 10.1016/j.ajhg.2011.05.011 Matsushita, 2013, Structural and functional overview of the lectin complement pathway: its molecular basis and physiological implication, Arch Immunol Ther Exp (Warsz), 61, 273, 10.1007/s00005-013-0229-y Stover, 1999, Two constituents of the initiation complex of the mannan-binding lectin activation pathway of complement are encoded by a single structural gene, J Immunol, 162, 3481, 10.4049/jimmunol.162.6.3481 Thiel, 2007, Complement activating soluble pattern recognition molecules with collagen-like regions, mannan-binding lectin, ficolins and associated proteins, Mol Immunol, 44, 3875, 10.1016/j.molimm.2007.06.005 Laursen, 2012, MASP interactions with plasma-derived MBL, Mol Immunol, 52, 79, 10.1016/j.molimm.2012.04.014 Stengaard-Pedersen, 2003, Inherited deficiency of mannan-binding lectin-associated serine protease 2, N Engl J Med, 349, 554, 10.1056/NEJMoa022836 Thiel, 2007, Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms, Genes Immun, 8, 154, 10.1038/sj.gene.6364373 Thiel, 2009, Polymorphisms in mannan-binding lectin (MBL)-associated serine protease 2 affect stability, binding to MBL, and enzymatic activity, J Immunol, 182, 2939, 10.4049/jimmunol.0802053 Boldt, 2011, Multiplex sequence-specific polymerase chain reaction reveals new MASP2 haplotypes associated with MASP-2 and MAp19 serum levels, Hum Immunol, 72, 753, 10.1016/j.humimm.2011.05.015 Boldt, 2013, Leprosy association with low MASP-2 levels generated by MASP2 haplotypes and polymorphisms flanking MAp19 exon 5, PLoS One, 8, e69054, 10.1371/journal.pone.0069054 Tulio, 2011, MASP2 gene polymorphism is associated with susceptibility to hepatitis C virus infection, Hum Immunol, 72, 912, 10.1016/j.humimm.2011.06.016 Holmberg, 2012, Mutations of complement lectin pathway genes MBL2 and MASP2 associated with placental malaria, Malar J, 11, 61, 10.1186/1475-2875-11-61 De Rooij, 2010, Lectin complement pathway gene profile of donor and recipient determine the risk of bacterial infections after orthotopic liver transplantation, Hepatology, 52, 1100, 10.1002/hep.23782 Boldt, 2011, MASP2 haplotypes are associated with high risk of cardiomyopathy in chronic Chagas disease, Clin Immunol, 140, 63, 10.1016/j.clim.2011.03.008 Goeldner, 2014, Association of MASP-2 levels and MASP2 gene polymorphisms with rheumatoid arthritis in patients and their relatives, PLoS One, 9, e90979, 10.1371/journal.pone.0090979 Dajani, 1992, Guidelines for the diagnosis of rheumatic fever: Jones criteria, 1992 update, JAMA, 268, 2069, 10.1001/jama.1992.03490150121036 Schafranski, 2008, Functional MASP2 gene polymorphism in patients with history of rheumatic fever, Hum Immunol, 69, 41, 10.1016/j.humimm.2007.11.003 Excoffier L, Lischer HEL. Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows. Mol Ecol Resour 2010;10:564–7. Guilherme L, Kalil J. Rheumatic heart disease: molecules involved in valve tissue inflammation leading to the autoimmune process and anti-S. pyogenes vaccine. Front Immunol 2013;4:352. Guilherme, 2012, Rheumatic heart disease: genes, inflammation and autoimmunity, Rheumatol Curr Res, S4, 1 Boldt, 2012, Relevance of the lectin pathway of complement in rheumatic diseases, Adv Clin Chem, 56, 105, 10.1016/B978-0-12-394317-0.00012-1 Ramasawmy R, Spina GS, Fae KC, Pereira AC, Nisihara R, Messias Reason IJ, et al. Association of mannose-binding lectin gene polymorphism but not of mannose-binding serine protease 2 with chronic severe aortic regurgitation of rheumatic etiology. Clin Vaccine Immunol 2008;15:932–6. Schafranski, 2008, High-producing MBL2 genotypes increase the risk of acute and chronic carditis in patients with history of rheumatic fever, Mol Immunol, 45, 3827, 10.1016/j.molimm.2008.05.013 Zhang, 2013, MASP-2 activation is involved in ischemia-related necrotic myocardial injury in humans, Int J Cardiol, 166, 499, 10.1016/j.ijcard.2011.11.032 Zehnder, 2009, Prognosis in pediatric hematologic malignancies is associated with serum concentration of mannose-binding lectin-associated serine protease-2 (MASP-2), Pediatr Blood Cancer, 53, 53, 10.1002/pbc.22028 Schafranski, 2004, Significantly increased levels of mannose-binding lectin (MBL) in rheumatic heart disease: a beneficial role for MBL deficiency, Clin Exp Immunol, 138, 521, 10.1111/j.1365-2249.2004.02645.x Messias Reason, 2006, The association between mannose-binding lectin gene polymorphism and rheumatic heart disease, Hum Immunol, 67, 991, 10.1016/j.humimm.2006.08.296 Messias-Reason, 2009, Ficolin 2 (FCN2) functional polymorphisms and the risk of rheumatic fever and rheumatic heart disease, Clin Exp Immunol, 157, 395, 10.1111/j.1365-2249.2009.03975.x McLean, 2014, Role of autoimmunity in heart disease: is Chagas heart disease the definitive proof?, Can J Cardiol, 30, 267, 10.1016/j.cjca.2013.10.006 Nebert, 2002, Proposal for an allele nomenclature system based on the evolutionary divergence of haplotypes, Hum Mutat, 20, 463, 10.1002/humu.10143