CD59 polymorphisms are associated with gene expression and different sexual susceptibility to pemphigus foliaceus

References

• Rappersberger K, Roos N, Stanley JR. Immunomorphologic and biochemical identification of the pemphigus foliaceous autoantigen within desmosomes. J Investig Dermat. 1992;99:323–330.
   PubMed Web of Science ®Google Scholar
• Bystryn JC, Rudolph JL. Pemphigus. The Lancet. 2005;366:61–73.
   PubMed Web of Science ®Google Scholar
• Diaz LA, Sampaio SA, Rivitti EA, et al. Endemic pemphigus foliaceus (fogo selvagem). I. Clinical features and immunopathology. J Am Acad Dermatol. 1989;20:657–669.
   PubMed Web of Science ®Google Scholar
• Meyera N, Misery L. Geoepidemiologic considerations of auto-immune pemphigus. Autoimmun Rev. 2010;9:A379–A382.
   PubMed Web of Science ®Google Scholar
• Berkowitz P, Chua M, Liu Z, et al. Autoantibodies in the autoimmune disease pemphigus foliaceus induce blistering via p38 mitogen-activated protein kinase-dependent signaling in the skin. Am J Pathol. 2008;173:1628–1636.
   PubMed Web of Science ®Google Scholar
• Culton DA, Qian Y, Li N, et al. Advances in pemphigus and its endemic pemphigus foliaceus (Fogo Selvagem) phenotype: a paradigm of human autoimmunity. J Autoimmun. 2008;31:311–324.
   PubMed Web of Science ®Google Scholar
• Malheiros DF, Panepucci RA, Roselino AM, et al. Genome-wide gene expression profiling reveals unsuspected molecular alterations in pemphigus foliaceus. Immunology. 2014;143:381–395.
   PubMed Web of Science ®Google Scholar
• Abida O, Kallel-Sellami M, Joly P, et al. Anti-desmoglein 1 antibodies in healthy related and unrelated subjects and patients with pemphigus foliaceus in endemic and non-endemic areas from Tunisia. J Eur Acad Dermatol Venereol. 2009;23:1073–1078.
   PubMed Web of Science ®Google Scholar
• Toumi A, Abida O, Ben Ayed M, et al. Cytokine gene polymorphisms in Tunisian endemic pemphigus foliaceus: a possible role of IL-4 variants. Hum Immunol. 2013;74:658–665.
   PubMed Web of Science ®Google Scholar
• Aoki V, Sousa JX, Diaz LA. Pathogenesis of endemic pemphigus foliaceus. Dermatol Clin. 2011;29:413–418.
   PubMed Web of Science ®Google Scholar
• Piovezan BZ, Petzl-Erler ML. Both qualitative and quantitative genetic variation of MHC class II molecules may influence susceptibility to autoimmune diseases: the case of endemic pemphigus foliaceus. Hum Immunol. 2013;74:1134–1140.
   PubMed Web of Science ®Google Scholar
• Pereira NF, Hansen JA, Lin MT, et al. Cytokine gene polymorphisms in endemic pemphigus foliaceus: a possible role for IL6 variants. Cytokine. 2004;28:233–241.
   PubMed Web of Science ®Google Scholar
• Augusto DG, Lobo-Alves SC, Melo MF, et al. Activating KIR and HLA Bw4 ligands are associated to decreased susceptibility to pemphigus foliaceus, an autoimmune blistering skin disease. PLoS One. 2012;7:e39991.
   PubMed Web of Science ®Google Scholar
• Malheiros DF, Petzl-Erler ML. Individual and epistatic effects of genetic polymorphisms of B-cell co-stimulatory molecules on susceptibility to pemphigus foliaceus. Genes Immun. 2009;10:547–558.
   PubMed Web of Science ®Google Scholar
• Oliveira LC, Boldt ABW. Estudo de associação entre polimorfismos e níveis séricos do receptor 1 do complemento e o pênfigo foliáceo, Dissertação de mestrado Universidade Federal do Paraná, Curitiba; 2015.
   Google Scholar
• Boldt ABW, Goeldner I, Messias-Reason IJT. Relevance of the lectin pathway of complement in rheumatic diseases. Adv Clin Chem. 2012;56:105–153.
   PubMed Web of Science ®Google Scholar
• Petersen SV, Thiel S, Jensenius JC. The mannan-binding lectin pathway of complement activation: biology and disease association. Mol Immunol. 2011;38:133–149.
   Google Scholar
• Muller-Eberhard HJ. Molecular organization and function of the complement system. Annu Rev Biochem. 1988;57:321–347.
   PubMed Web of Science ®Google Scholar
• Kawana S, Diaz LA, Rivitti EA, et al. Complement fixation by Brazilian Pemphigus foliaceus autoantibodies. Clin Exp Immunol. 1988;71:464–469.
   PubMed Web of Science ®Google Scholar
• Kawana S, Geoghegan WD, Jordon RE, et al. Deposition of the membrane attack complex of complement in pemphigus vulgaris and pemphigus foliaceus skin. J Invest Dermatol. 1989;92:588–591.
   PubMed Web of Science ®Google Scholar
• Messias-Reason IJ, Nisihara RM, Mocelin V. Mannan-binding lectin and ficolin deposition in skin lesions of pemphigus. Arch Dermatol Res. 2011;303:521–525.
   PubMed Web of Science ®Google Scholar
• Hochsmann B, Dohna-Schwake C, Kyrieleis HA, et al. Targeted therapy with eculizumab for inherited CD59 deficiency. N Engl J Med. 2014;370:90–92.
   PubMed Web of Science ®Google Scholar
• Cho H. Complement regulation: physiology and disease relevance. Kor J Pediatr. 2015;58:239–244.
   PubMedGoogle Scholar
• Kimberley FC, Sivasankar B, Morgan BP. Alternative roles for CD59. Mol Immunol. 2007;44:73–81.
   PubMed Web of Science ®Google Scholar
• Huang Y, Qiao F, Abagyan R, et al. Defining the CD59-C9 binding interaction. J Biol Chem. 2006;281:27398–27404.
   PubMed Web of Science ®Google Scholar
• Huang Y, Fedarovich A, Tomlinson S, et al. Crystal structure of CD59: implications for molecular recognition of the complement proteins C8 and C9 in the membrane-attack complex. Acta Crystallogr. 2007;63:714–721.
   Google Scholar
• Alegretti AP, Mucenic T, Brenol JCT, et al. The role of CD55/CD59 complement regulatory proteins on peripheral blood cells of systemic lupus erythematosus patients. Rev Brasil Reumatol. 2009;49:276–287.
   Google Scholar
• Clayton A, Harris CL, Court J, et al. Antigen-presenting cell exosomes are protected from complement-mediated lysis by expression of CD55 and CD59. Eur J Immunol. 2003;33:522–531.
   PubMed Web of Science ®Google Scholar
• Gorter A, Meri S. Immune evasion of tumor cells using membrane-bound complement regulatory proteins. Immunol Today. 1999;20:576–582.
   PubMedGoogle Scholar
• Amet T, Ghabril M, Chalasani N, et al. CD59 incorporation protects hepatitis C virus against complement-mediated destruction. Hepatology. 2012;55:354–363.
   PubMed Web of Science ®Google Scholar
• Deckert M, Kubar J, Bernard A. CD58 and CD59 molecules exhibit potentializing effects in T cell adhesion and activation. J Immunol. 1992;148:672–677.
   PubMed Web of Science ®Google Scholar
• Van Den Berg CW, Cinek T, Hallett MB, et al. Exogenous glycosyl phosphatidylinositol-anchored CD59 associates with kinases in membrane clusters on U937 cells and becomes Ca(2+)-signaling competent. J Cell Biol. 1995;131:669–677.
   PubMed Web of Science ®Google Scholar
• Monleon I, Martinez-Lorenzo MJ, Anel A, et al. CD59 cross-linking induces secretion of APO2 ligand in overactivated human T cells. Eur J Immunol. 2000;30:1078–1087.
   PubMed Web of Science ®Google Scholar
• Petranka JG, Fleenor DE, Sykes K, et al. Structure of the CD59-encoding gene: further evidence of a relationship to murine lymphocyte antigen Ly-6 protein (human late complement inhibitor gene). Med Sci. 1992;89:7876–7879.
   Google Scholar
• ENSEMBL database [Internet]. Available from: http://www.ensembl.org/Homo_sapiens/Gene/Summary?db = core;g = ENSG00000085063;r = 11:33698261-33736445
   Google Scholar
• GTEX database [Internet]. Available from: http://www.gtexportal.org/home/gene/CD59
   Google Scholar
• Nevo Y, Ben-Zeev B, Tabib A, et al. CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy. Blood. 2013;121:129–135.
   PubMed Web of Science ®Google Scholar
• Mevorach D. Paroxysmal nocturnal hemoglobinuria (PNH) and primary p.Cys89Tyr mutation in CD59: differences and similarities. Mol Immunol. 2015;67:51–55.
   PubMed Web of Science ®Google Scholar
• Acosta J, Hettinga J, Fluckiger R, et al. Molecular basis for a link between complement and the vascular complications of diabetes. Proc Natl Acad Sci. 2000;97:5450–5455.
   PubMed Web of Science ®Google Scholar
• Kinderlerer AR, Steinberg R, Johns M, et al. Statin-induced expression of CD59 on vascular endothelium in hypoxia: a potential mechanism for the anti-inflammatory actions of statins in rheumatoid arthritis. Arthritis Res Ther. 2006;8:R130.
   PubMed Web of Science ®Google Scholar
• Alegretti AP, Mucenic T, Merzoni CJ, et al. Expression of CD55 and CD59 on peripheral blood cells from systemic lupus erythematosus (SLE) patients. Cell Immunol. 2010;265:127–132.
   PubMed Web of Science ®Google Scholar
• Ruiz-Argüelles AA, Llorente L. The role of complement regulatory proteins (CD55 and CD59) in the pathogenesis of autoimmune hemocytopenias. Autoimmun Rev. 2007;6:155–161.
   PubMed Web of Science ®Google Scholar
• Kusner LL, Kaminski HJ. The role of complement in experimental autoimmune myasthenia gravis. Ann N Y Acad Sci. 2012;1274:127–132.
   PubMed Web of Science ®Google Scholar
• Uzawa A, Mori M, Uchida T, et al. Increased levels of CSF CD59 in neuromyelitis optica and multiple sclerosis. Clin Chim Acta. 2016;453:131–133.
   PubMed Web of Science ®Google Scholar
• 1000 Genomes Project [Internet]. Available from: http://www.1000genomes.org/1000-genomes-browsers
   Google Scholar
• Livak K, Schmittgen TD. Analysis of relative gene expression data using realtime quantitative PCR and the 2–ΔΔCt method. Methods. 2001;25:402–408.
   PubMed Web of Science ®Google Scholar
• Braun-Prado K, Vieira Mion AL, Farah PN, et al. HLA class I polymorphism, as characterised by PCR-SSOP, in a Brazilian exogamic population. Tissue Antigens. 2000;56:417.
   PubMedGoogle Scholar
• Probst CM, Bompeixe EP, Pereira NF, et al. HLA polymorphisms and evaluation of European, African, and Amerindian contribution to the white and mulatto populations from Parana, Brazil. Hum Biol. 2000;72:597–617.
   PubMed Web of Science ®Google Scholar
• Messias IT, Santamaria J, Ragiotto R, et al. Complement activation in Brazilian pemphigus foliaceus. Clin Exp Dermatol. 1989;14:51–55.
   PubMed Web of Science ®Google Scholar
• Messias IT, Von Kuster LC, Santamaria J, et al. Complement and antibody deposition in Brazilian pemphigus foliaceus and correlation of disease activity with circulating antibodies. Arch Dermatol. 1988;124:1664–1668.
   PubMedGoogle Scholar
• Bastuji-Garin S, Souissi R, Blum L, et al. Comparative epidemiology of pemphigus in Tunisia and France: unusual incidence of pemphigus foliaceus in young Tunisian women. J Invest Dermatol. 1996;104:302–305.
   Web of Science ®Google Scholar
• Abida O, Kallel-Sellami M, Joly P, et al. Anti-desmoglein 1 antibodies in healthy related and unrelated subjects and patients with pemphigus foliaceus in endemic and non-endemic areas from Tunisia. J Eur Acad Dermatol Venereol. 2009;23:1073–1078.
   PubMed Web of Science ®Google Scholar
• Hinrichs AS, Raney BJ, Speir ML, et al. UCSC data integrator and variant annotation integrator. Bioinformatics. 2016;32:1430–1432.
   PubMed Web of Science ®Google Scholar
• UCSC Genome Browser [Internet]. Available from: https://genome.ucsc.edu/cgi-bin/hgTracks?db = hg19&lastVirtModeType = default&lastVirtModeExtraState = &virtModeType = default&virtMode = 0&nonVirtPosition = &position = chr11%3A33746186-33746686&hgsid = 510382285_nBoMez8UQE92pCjneEJysEM8pTEY
   Google Scholar
• Toumi A, Chaabouni K, Abida O, et al. Elevated prolactin levels in patients with pemphigus foliaceus. J Clin Dermatol Ther. 2016;3:017.
   Google Scholar
• Tanriverdi F, Silveira LF, Maccoll GS, et al. The hypothalamic-pituitary-gonadal axis: immune function and autoimmunity. J Endocrinol. 2003;176:293–304.
   PubMed Web of Science ®Google Scholar
• Carlsten H, Holmdahl R, Tarkowski A, et al. Oestradiol- and testosterone-mediated effects on the immune system in normal and autoimmune mice are genetically linked and inherited as dominant traits. Immunology. 1989;68:209–214.
   PubMed Web of Science ®Google Scholar
• Ratnoff WD, Brockman WW, Hasty LA. Immunohistochemical localization of C9 neoantigen and the terminal complement inhibitory protein CD59 in human endometrium. Am J Reprod Immunol. 1995;34:72–79.
   PubMed Web of Science ®Google Scholar
• Marana RRNF, Ferriani RA, Soares SG, et al. Expression of complement system regulatory molecules in the endometrium of normal ovulatory and hyperstimulated women correlate with menstrual cycle phase. Fertil Steril. 2006;86:758–761.
   PubMed Web of Science ®Google Scholar
• Morrow EH. The evolution of sex differences in disease. Biol Sex Differ. 2015;6:5.
   PubMed Web of Science ®Google Scholar
• Waitumbi JN, Donvito B, Kisserli A, et al. Age-related changes in red blood cell complement regulatory proteins and susceptibility to severe malaria. J Infect Dis. 2004;190:1183–1191.
   PubMed Web of Science ®Google Scholar
• Arora M, Arora R, Tiwari SC, et al. Expression of complement regulatory proteins in diffuse proliferative glomerulonephritis. Lupus. 2000;9:127–131.
   PubMed Web of Science ®Google Scholar
• Deckert M, Ticchioni M, Mari B, et al. The glycosylphosphatidylinositol-anchored CD59 protein stimulates both T cell receptor zeta/ZAP-70-dependent and -independent signaling pathways in T cells. Eur J Immunol. 1995;25:1815–1822.
   PubMed Web of Science ®Google Scholar
• Korty PE, Brando C, Shevach EM. CD59 functions as a signal-transducing molecule for human T cell activation. J Immunol. 1991;146:4092–4098.
   PubMed Web of Science ®Google Scholar
• Lipp AM, Juhasz K, Paar C, et al. Lck mediates signal transmission from CD59 to the TCR/CD3 pathway in Jurkat T cells. PLoS One. 2014;9:e85934.
   PubMed Web of Science ®Google Scholar