Polymorphisms in the lectin pathway genes as a possible cause of early chronic Pseudomonas aeruginosa colonization in cystic fibrosis patients

Human Immunology

Volumn 73, Issue 11, 2012, Pages 1175-1183

  Haerynck, F ^a   Van Steen, K ^a,b   Cattaert, T ^b   Loeys, B ^c   Van daele, S ^a   Schelstraete, P ^a   Claes, K ^a   Van Thielen, M ^d   De Canck, I ^d   Mahachie John, J M ^b   De Baets, F ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY OF LIÈGE   (Belgium)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^d INNOGENETICS   (Belgium)

Author keywords

Cystic fibrosis; Innate immunity; Lectin pathway; Polymorphisms; Pseudomonas aeruginosa colonization

Indexed keywords

FICOLIN; LECTIN; MANNOSE BINDING LECTIN 2;

ADULT; ARTICLE; BACTERIAL COLONIZATION; CHILD; CONTROLLED STUDY; CYSTIC FIBROSIS; FEMALE; GENETIC ASSOCIATION; GENOTYPE; HUMAN; INNATE IMMUNITY; MAJOR CLINICAL STUDY; MALE; MUTANT; PRIORITY JOURNAL; PSEUDOMONADACEAE; PSEUDOMONAS AERUGINOSA; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SURVIVAL;

ADOLESCENT; ADULT; ALLELES; CHILD; COMPLEMENT PATHWAY, MANNOSE-BINDING LECTIN; CYSTIC FIBROSIS; FEMALE; GENOTYPE; HUMANS; LECTINS; MALE; MANNOSE-BINDING LECTIN; MANNOSE-BINDING PROTEIN-ASSOCIATED SERINE PROTEASES; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PSEUDOMONAS AERUGINOSA; PSEUDOMONAS INFECTIONS; YOUNG ADULT;

EID: 84867865314     PISSN: 01988859     EISSN: 18791166     Source Type: Journal    
DOI: 10.1016/j.humimm.2012.08.010     Document Type: Article

References (38)

1. Ratjen F., Doring G. Cystic fibrosis. Lancet 2003, 361-681.
2. Kerem E., Corey M., Gold R., Levison H. Pulmonary function and clinical course in patients with cystic fibrosis after pulmonary colonization with Pseudomonas aeruginosa. J Pediatr 1990, 116:714.
3. Albiger B., Dahlberg S., Henriques-Normark B., Normark S. Role of the innate immune system in host defence against bacterial infections: focus on the Toll-like receptors. J Intern Med 2007, 261-511.
4. Chalmers J.D., Fleming G.B., Hill A.T., Kilpatrick D.C. Impact of mannose binding lectin (MBL) insufficiency on the course of cystic fibrosis: a review and meta-analysis. Glycobiology 2010.
5. Dorfman R., Sandford A., Taylor C., Huang B., Frangolias D., Wang Y., et al. Complex two-gene modulation of lung disease severity in children with cystic fibrosis. J Clin Invest 2008, 118:1040.
6. Carlsson M., Sjoholm A.G., Eriksson L., Thiel S., Jensenius J.C., Segelmark M., et al. Deficiency of the mannan-binding lectin pathway of complement and poor outcome in cystic fibrosis: bacterial colonization may be decisive for a relationship. Clin Exp Immunol 2005, 139:306.
7. Garred P., Pressler T., Madsen H.O., Frederiksen B., Svejgaard A., Hoiby N., et al. Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. J Clin Invest 1999, 104:431.
8. McDougal K.E., Green D.M., Vanscoy L.L., Fallin M.D., Grow M., Cheng S., et al. Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis. Eur J Hum Genet 2010, 18:680.
9. Olesen H.V., Jensenius J.C., Steffensen R., Thiel S., Schiotz P.O. The mannan-binding lectin pathway and lung disease in cystic fibrosis-disfunction of mannan-binding lectin-associated serine protease 2 (MASP-2) may be a major modifier. Clin Immunol 2006, 121:324.
10. Matsushita M., Endo Y., Taira S., Sato Y., Fujita T., Ichikawa N., et al. A novel human serum lectin with collagen- and fibrinogen-like domains that functions as an opsonin. J Biol Chem 1996, 271:2448.
11. Nahid A.M., Sugii S. Binding of porcine ficolin-alpha to lipopolysaccharides from Gram-negative bacteria and lipoteichoic acids from Gram-positive bacteria. Dev Comp Immunol 2006, 30:335.
12. Klein N.J. Mannose-binding lectin: do we need it?. Mol Immunol 2005, 42:919.
13. Dahl M.R., Thiel S., Matsushita M., Fujita T., Willis A.C., Christensen T., et al. MASP-3 and its association with distinct complexes of the mannan-binding lectin complement activation pathway. Immunity 2001, 15:127.
14. Fidler K.J., Hilliard T.N., Bush A., Johnson M., Geddes D.M., Turner M.W., et al. Mannose-binding lectin is present in the infected airway: a possible pulmonary defence mechanism. Thorax 2009, 64:150.
15. Sumiya M., Super M., Tabona P., Levinsky R.J., Arai T., Turner M.W., et al. Molecular basis of opsonic defect in immunodeficient children. Lancet 1991, 337:1569.
16. Madsen H.O., Garred P., Thiel S., Kurtzhals J.A., Lamm L.U., Ryder L.P., et al. Interplay between promoter and structural gene variants control basal serum level of mannan-binding protein. J Immunol 1995, 155:3013.
17. Dommett R.M., Klein N., Turner M.W. Mannose-binding lectin in innate immunity: past, present and future. Tissue Antigens 2006, 68:193.
18. Thiel S. Complement activating soluble pattern recognition molecules with collagen-like regions, mannan-binding lectin, ficolins and associated proteins. Mol Immunol 2007, 44:3875.
19. Hummelshoj T., Munthe-Fog L., Madsen H.O., Fujita T., Matsushita M., Garred P. Polymorphisms in the FCN2 gene determine serum variation and function of Ficolin-2. Hum Mol Genet 2005, 14:1651.
20. Collaco J.M., Cutting G.R. Update on gene modifiers in cystic fibrosis. Curr Opin Pulm Med 2008, 14:559.
21. Davies J.C., Griesenbach U., Alton E. Modifier genes in cystic fibrosis. Pediatr Pulmonol 2005, 39:383.
22. Doring G., Conway S.P., Heijerman H.G., Hodson M.E., Hoiby N., Smyth A., et al. Antibiotic therapy against Pseudomonas aeruginosa in cystic fibrosis: a European consensus. The European respiratory journal: official journal of the European Society for Clinical Respiratory. Physiology 2000, 16:749.
23. Garred P., Honore C., Ma Y.J., Munthe-Fog L., Hummelshoj T. MBL2, FCN1, FCN2 and FCN3 - the genes behind the initiation of the lectin pathway of complement. Mol Immunol 2009, 46:2737.
24. Stuyver L., Rossau R., Wyseur A., Duhamel M., Vanderborght B. Van Heuverswyn Het al. Typing of hepatitis C virus isolates and characterization of new subtypes using a line probe assay. J Gen Virol 1993, 74(Pt 6):1093.
25. Verstraelen H., Verhelst R., Nuytinck L., Roelens K., De Meester E., De Vos D., et al. Gene polymorphisms of Toll-like and related recognition receptors in relation to the vaginal carriage of Gardnerella vaginalis and Atopobium vaginae. J Reprod Immunol 2009, 79:163.
26. Vander Cruyssen B., Nuytinck L., Boullart L., Elewaut D., Waegeman W., Van Thielen M., et al. Polymorphisms in the ficolin 1 gene (FCN1) are associated with susceptibility to the development of rheumatoid arthritis. Rheumatology (Oxford) 2007, 46:1792.
27. Cedzynski M., Nuytinck L., Atkinson A.P., St Swierzko A., Zeman K., Szemraj J., et al. Extremes of l-ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene. Clin Exp Immunol 2007, 150:99.
28. Wallis R. Interactions between mannose-binding lectin and MASPs during complement activation by the lectin pathway. Immunobiology 2007, 212:289.
29. Dorfman R., Taylor C., Lin F., Sun L., Sandford A., Pare P., et al. Modulatory effect of the SLC9A3 gene on susceptibility to infections and pulmonary function in children with cystic fibrosis. Pediatr Pulmonol 2011, 46:385.
30. Grasemann H., Storm van's Gravesande K., Buscher R., Knauer N., Silverman E.S., Palmer L.J., et al. Endothelial nitric oxide synthase variants in cystic fibrosis lung disease. Am J Respir Crit Care Med 2003, 167:390.
31. Trevisiol C., Boniotto M., Giglio L., Poli F., Morgutti M., Crovella S. MBL2 polymorphisms screening in a regional Italian CF Center. J Cyst Fibros 2005, 4:189.
32. Liu Y., Endo Y., Iwaki D., Nakata M., Matsushita M., Wada I., et al. Human M-ficolin is a secretory protein that activates the lectin complement pathway. J Immunol 2005, 175:3150.
33. Cedzynski M., Nuytinck L., Atkinson A.P.M., St Swierzko A., Zeman K., Szemraj J., et al. Extremes of L-ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene. Clin Exp Immunol 2007, 150:99.
34. Kilpatrick D.C., Chalmers J.D., MacDonald S.L., Murray M., Mohammed A., Hart S.P., et al. Stable bronchiectasis is associated with low serum L-ficolin concentrations. Clin Respir J 2009, 3:29.
35. Garred P., Larsen F., Seyfarth J., Fujita R., Madsen H.O. Mannose-binding lectin and its genetic variants. Genes Immun 2006, 7:85.
36. Davies J., Neth O., Alton E., Klein N., Turner M. Differential binding of mannose-binding lectin to respiratory pathogens in cystic fibrosis. Lancet 2000, 355:1885.
37. Hunt R., Sauna Z.E., Ambudkar S.V., Gottesman M.M., Kimchi-Sarfaty C. Silent (synonymous) SNPs: should we care about them?. Methods Mol Biol 2009, 578:23.
38. Nuytinck L., Shapiro F. Mannose-binding lectin: laying the stepping stones from clinical research to personalized medicine. Personalized Med 2004, 1:35. .