Association of MASP-2 levels and MASP2 gene polymorphisms with rheumatoid arthritis in patients and their relatives

PLoS ONE

Volumn 9, Issue 3, 2014, Pages

  Goeldner, Isabela ^a   Skare, Thelma ^b   Boldt, Angelica B W ^a   Nass, Flavia R ^a   Messias Reason, Iara J ^a   Utiyama, Shirley R ^a  

^a FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

^b University Evangelic Hospital   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; CYCLIC CITRULLINATED PEPTIDE ANTIBODY; MANNAN BINDING LECTIN ASSOCIATED SERINE PROTEINASE; MANNAN BINDING LECTIN ASSOCIATED SERINE PROTEINASE 2; UNCLASSIFIED DRUG; MASP2 PROTEIN, HUMAN;

ADULT; AGE; AGED; ARTICLE; BRAZIL; CASE CONTROL STUDY; CONSANGUINITY; CONTROLLED STUDY; DISEASE COURSE; ENZYME BLOOD LEVEL; ETHNICITY; FEMALE; GENDER; GENE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MASP2 GENE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; RHEUMATOID ARTHRITIS; RHEUMATOID NODULE; SJOEGREN SYNDROME; SMOKING HABIT; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MIDDLE AGED; PATHOLOGY; YOUNG ADULT;

ADULT; AGED; ARTHRITIS, RHEUMATOID; CASE-CONTROL STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MANNOSE-BINDING PROTEIN-ASSOCIATED SERINE PROTEASES; MIDDLE AGED; POLYMORPHISM, GENETIC; YOUNG ADULT;

EID: 84898465499     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0090979     Document Type: Article

References (48)

1. Silman AJ, Pearson JE (2002) Epidemiology and genetics of rheumatoid arthritis. Arthritis Res 4:265-72.
2. Gabriel SE, Crowson CS, O'Fallon WM (1999) Mortality in rheumatoid arthritis: have we made an impact in 4 decades? J Rheumatol 26:2529-33.
3. Van Vollenhoven RF (2009) Treatment of rheumatoid arthritis: state of the art 2009. Nat Rev Rheumatol 5;531-41.
4. Eleftherohorinou H, Hoggart CJ, Wright VJ, Levin M, Coin LJ (2011) Pathway-driven gene stability selection of two rheumatoid arthritis GWAS identifies and validates new susceptibility genes in receptor mediated signalling pathways. Hum Mol Genet 20:3494-506.
5. Myouzen K, Kochi Y, Okada Y, Terao C, Suzuki A, et al. (2012) Functional variants in NFKBIE and RTKN2 involved in activation of the NF-κB pathway are associated with rheumatoid arthritis in Japanese. PLoS Genet 8:e1002949.
6. Okada Y, Terao C, Ikari K, Kochi Y, Ohmura K, et al. (2012) Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. Nat Genet 44:511-6.
7. Michou L, Rat AC, Lasbleiz S, Bardin T, Cornélis F (2008) Prevalence and distribution of autoimmune diseases in 368 rheumatoid arthritis families. J Rheumatol 35:790-6. (Pubitemid 351747118)
8. Guthrie KA, Tishkevich NR, Nelson JL. (2009) Non-inherited maternal human leukocyte antigen alleles in susceptibility to familial rheumatoid arthritis. Ann Rheum Dis 68:107-9.
9. Goeldner I, Skare TL, de Messias Reason IT, Nisihara RM, Silva MB, et al. (2010) Anti-cyclic citrullinated peptide antibodies and rheumatoid factor in rheumatoid arthritis patients and relatives from Brazil. Rheumatology (Oxford) 49:1590-3.
10. Rojas-Villarraga A, Diaz FJ, Calvo-Páramo E, Salazar JC, Iglesias-Gamarra A, et al. (2009) Familial disease, the HLA-DRB1 shared epitope and anti-CCP antibodies influence time at appearance of substantial joint damage in rheumatoid arthritis. J Autoimmun 32:64-9.
11. Ärlestig L, Mullazehi M, Kokkonen H, Rocklöv J, Rönnelid J, et al. (2012) Antibodies against cyclic citrullinated peptides of IgG, IgA and IgM isotype and rheumatoid factor of IgM and IgA isotype are increased in unaffected members of multicase rheumatoid arthritis families from northern Sweden. Ann Rheum Dis 71:825-9.
12. Jacobsen S, Garred P, Madsen HO, Heegaard NH, Hetland ML, et al. (2009) Mannose-binding lectin gene polymorphisms are associated with disease activity and physical disability in untreated, anti-cyclic citrullinated peptide-positive patients with early rheumatoid arthritis. J Rheumatol 36:731-5.
13. Thiel S (2007) Complement activating soluble pattern recognition molecules with collagen-like regions, mannan-binding lectin, ficolins and associated proteins. Mol Immunol 44:3875-88.
14. Degn SE, Jensen L, Hansen AG, Duman D, Tekin M, et al. (2012) Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function. J Immunol 189:3957-69.
15. Martiny FL, Veit TD, Brenol CV, Brenol JC, Xavier RM, et al. (2012) Mannose-binding Lectin Gene Polymorphisms in Brazilian Patients with Rheumatoid Arthritis. J Rheumatol 39:6-9.
16. Messias-Reason IT, Bosco DG, Nisihara RM, Jakobsen LH, Petzl-Erler ML, et al. (2008) Circulating levels of mannan-binding lectin (MBL) and MBL-associated serine protease 2 in endemic pemphigus foliaceus. Clin Exp Dermatol 33:495-7. (Pubitemid 351832152)
17. Banda NK, Takahashi M, Levitt B, Glogowska M, Nicholas J, et al. (2010) Essential role of complement mannose-binding lectin-associated serine proteas-es- 1/3 in the murine collagen antibody-induced model of inflammatory arthritis. J Immunol 185:5598-606.
18. Ammitzboll CG, Thiel S, Ellingsen T, Deleuran B, Jorgensen A, et al. (2012) Levels of lectin pathway proteins in plasma and synovial fluid of rheumatoid arthritis and osteoarthritis. Rheumatol Int 32:1457-63.
19. Boldt AB, Goeldner I, de Messias-Reason IJ (2012) Relevance of the lectin pathway of complement in rheumatic diseases. Adv Clin Chem 56:105-53.
20. Hajela K, Kojima M, Ambrus G, Wong KH, Moffatt BE, et al. (2002) The Biological Functions of MBL-Associated Serine Proteases (MASPs). Immunobiology 205:467-75. (Pubitemid 35153962)
21. Stover C, Endo Y, Takahashi M, Lynch NJ, Constantinescu C, et al. (2001) The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2-3. Genes Immun 2:119-27. (Pubitemid 33674876)
22. Herráez DL, Martínez-Bueno M, Riba L, de la Torre IG, Sacnún M, et al. (2013) Rheumatoid Arthritis in Latin Americans Enriched for Amerindian Ancestry is Associated With Loci in Chromosomes 1, 12, and 13, and the HLA Class II Region. Arthritis Rheum 65:1457-67.
23. The International Multiple Sclerosis Genetics Consortium (IMSGC) (2011) Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature 10:214-9.
24. Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, et al. (2012) Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 491:119-24.
25. Thiel S, Steffensen R, Christensen IJ, Ip WK, Lau YL, et al. (2007) Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms. Genes Immun 8:154-63. (Pubitemid 46390914)
26. Boldt AB, Grisbach C, Steffensen R, Thiel S, Kun JF, et al. (2011) Multiplex sequence specific polymerase chain reaction reveals new MASP2 haplotypes associated with MASP-2 and MAp19 serum levels. Hum Immunol 72:753-60.
27. Sallenbach S, Thiel S, Aebi C, Otth M, Bigler S, et al. (2011) Serum concentrations of lectin-pathway components in healthy neonates, children and adults: mannan-binding lectin (MBL), M-, L-, and H-ficolin, and MBL-associated serine protease-2 (MASP-2). Pediatr Allergy Immunol 22:424-30.
28. Stengaard-Pedersen K, Thiel S, Gadjeva M, Møller-Kristensen M, Sørensen R, et al. (2003) Inherited deficiency of mannan-binding lectin-associated serine protease 2. N Engl J Med 349:554-60. (Pubitemid 36951367)
29. Schafranski MD, Ferraria LP, Scherner D, Torres R, de Messias-Reason IJ (2008) Functional MASP2 gene polymorphism in patients with history of rheumatic fever. Hum Immunol 69:41-4.
30. Boldt AB, Luz PR, Messias-Reason IJ (2011) MASP2 haplotypes are associated with high risk of cardiomyopathy in chronic Chagas disease. Clin Immunol 140:63-70.
31. Zhang M, Hou YJ, Cavusoglu E, Lee DC, Steffensen R, et al. (2013) MASP-2 activation is involved in ischemia-related necrotic myocardial injury in humans. Int J Cardiol 166:499-504.
32. Boldt ABW, Goeldner I, Stahlke ERS, Thiel S, Jensenius JC, et al. (2013) Leprosy association with low MASP-2 levels generated by MASP2 haplotypes and polymorphisms flanking MAp19 exon 5. PLoS One In press.
33. Arnett FC, Edworthy SM, Bloch DA, McShane DJ, Fries JF, et al. (1988) The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 31:315-24. (Pubitemid 18091653)
34. Braun-Prado K, Vieira Mion AL, Farah PN, Culpi L, Petzl-Erler ML (2000) HLA class I polymorphism, as characterised by PCR-SSOP, in a Brazilian exogamic population. Tissue Antigens 56:417-27.
35. Probst CM, Bompeixe EP, Pereira NF, de O Dalalio MM, Visentainer JE, et al. (2000) HLA polymorphism and evaluation of European, African, and Amerindian contribution to the white and mulatto populations from Parana, Brazil. Hum Biol 72:597-617.
36. Schlapbach LJ, Aebi C, Otth M, Leibundgut K, Hirt A, et al. (2009) Deficiency of mannose-binding lectin-associated serine protease-2 associated with increased risk of fever and neutropenia in pediatric cancer patients. Pediatr Infect Dis J 26:989-94. (Pubitemid 350287579)
37. Vallès X, Sarrias MR, Casals F, Farnós M, Piñer R, et al. (2009) Genetic and structural analysis of MBL2 and MASP2 polymorphisms in south-eastern African children. Tissue Antigens 74:298-307.
38. Nebert DW (2000) Proposal for an allele nomenclature system based on the evolutionary divergence of haplotypes. Hum Mutat 20:463-72.
39. Bergstrom U, Jacobsson LT, Nilsson JA, Berglund G, Turesson C (2011) Pulmonary dysfunction, smoking, socioeconomic status and the risk of developing rheumatoid arthritis. Rheumatology (Oxford) 50:2005-13.
40. van de Stadt LA, de Koning MH, van de Stadt RJ, Wolbink G, Dijkmans BA, et al. (2011) Development of the anti-citrullinated protein antibody repertoire prior to the onset of rheumatoid arthritis. Arthritis Rheum 63:3226-33.
41. Ip WK, Lau YL, Chan SY, Mok CC, Chan D, et al. (2000) Mannose-binding lectin and rheumatoid arthritis in southern Chinese. Arthritis Rheum 43:1679-87.
42. Troelsen LN, Garred P, Christiansen B, Torp-Pedersen C, Christensen IJ, et al. (2010) Double role of mannose-binding lectin in relation to carotid intima-media thickness in patients with rheumatoid arthritis. Mol Immunol 47:713-8.
43. Endo Y, Takahashi M, Kuraya M, Matsushita M, Stover CM, et al. (2002) Functional characterization of human mannose-binding lectin-associated serine protease (MASP)-1/3 and MASP-2 promoters, and comparison with the C1s promoter. Int Immunol 14:1193-201. (Pubitemid 35175226)
44. Unterberger C, Hanson S, Klingenhoff A, Oesterle D, Frankenberger M, et al. (2007) Stat3 is involved in control of MASP2 gene expression. Biochem Biophys Res Commun 364:1022-5. (Pubitemid 350087902)
45. Srirangan S, Choy EH (2010) The role of interleukin 6 in the pathophysiology of rheumatoid arthritis. Ther Adv Musculoskelet Dis 2:247-56.
46. Sorensen CM, Hansen TK, Steffensen R, Jensenius JC, Thiel S (2006) Hormonal regulation of mannan-binding lectin synthesis in hepatocytes. Clin Exp Immunol 145:173-82. (Pubitemid 43893947)
47. Thiel S, Jensen L, Degn SE, Nielsen HJ, Gál P, et al. (2012) Mannan-binding lectin (MBL)-associated serine protease-1 (MASP-1), a serine protease associated with humoral pattern-recognition molecules: normal and acute-phase levels in serum and stoichiometry of lectin pathway components. Clin Exp Immunol 169:38-48.
48. Dolman KM, Brouwer N, Frakking FN, Flatø B, Tak PP, et al. (2008) Mannose-binding lectin deficiency is associated with early onset of polyarticular juvenile rheumatoid arthritis: a cohort study. Arthritis Res Ther 10:R32.