Characterization of mannose-binding lectin (MBL) variants by allele-specific sequencing of MBL2 and determination of serum MBL protein levels

Tissue Antigens

Volumn 82, Issue 6, 2013, Pages 410-415

  Adamek, M ^a   Heyder, J ^a,b   Heinold, A ^a,c   Fiedler, G ^a   Opelz, G ^a   Tran, T H ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

Haplotypes; Mannose binding lectin; MBL2; Sequencing

Indexed keywords

LECTIN; MANNOSE BINDING LECTIN; MANNOSE BINDING LECTIN 2;

ALLELE; ARTICLE; AUTOIMMUNE DISEASE; DISEASE PREDISPOSITION; DISEASE SEVERITY; EXON; GENE EXPRESSION; GENE SEQUENCE; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN ANALYSIS; PROTEIN BLOOD LEVEL; SINGLE NUCLEOTIDE POLYMORPHISM;

HAPLOTYPES; MANNOSE-BINDING LECTIN; MBL2; SEQUENCING;

AUTOIMMUNE DISEASES; COMPLEMENT PATHWAY, MANNOSE-BINDING LECTIN; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; GERMANY; HUMANS; INFECTION; LINKAGE DISEQUILIBRIUM; MALE; MANNOSE-BINDING LECTIN; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; SEQUENCE ANALYSIS, DNA;

EID: 84888136306     PISSN: 00012815     EISSN: 13990039     Source Type: Journal    
DOI: 10.1111/tan.12232     Document Type: Article

References (27)

1. Dommett RM, Klein N, Turner MW. Mannose-binding lectin in innate immunity: past, present and future. Tissue Antigens 2006: 68: 193-209.
2. Turner MW. The role of mannose-binding lectin in health and disease. Mol Immunol 2003: 40: 423-9.
3. Kilpatrick DC. Introduction to mannan-binding lectin. Biochem Soc Trans 2003: 31: 745-7.
4. Bouwman LH, Roep BO, Roos A. Mannose-binding lectin: clinical implications for infection, transplantation, and autoimmunity. Hum Immunol 2006: 67: 247-56.
5. Berger SP, Roos A, Mallat MJ, Fujita T, de Fijter JW, Daha MR. Association between mannose-binding lectin levels and graft survival in kidney transplantation. Am J Transplant 2005: 5: 1361-6.
6. Berger SP, Roos A, Mallat MJ et al. Low pretransplantation mannose-binding lectin levels predict superior patient and graft survival after simultaneous pancreas-kidney transplantation. J Am Soc Nephrol 2007: 18: 2416-22.
7. Lipscombe RJ, Sumiya M, Summerfield JA, Turner MW. Distinct physicochemical characteristics of human mannose binding protein expressed by individuals of differing genotype. Immunology 1995: 85: 660-7.
8. Sastry K, Herman GA, Day L et al. The human mannose-binding protein gene. Exon structure reveals its evolutionary relationship to a human pulmonary surfactant gene and localization to chromosome 10. J Exp Med 1989: 170: 1175-89.
9. Madsen HO, Garred P, Thiel S et al. Interplay between promoter and structural gene variants control basal serum level of mannan-binding protein. J Immunol 1995: 155: 3013-20.
10. Steffensen R, Thiel S, Varming K, Jersild C, Jensenius JC. Detection of structural gene mutations and promoter polymorphisms in the mannan-binding lectin (MBL) gene by polymerase chain reaction with sequence-specific primers. J Immunol Methods 2000: 241: 33-42.
11. Skalnikova H, Freiberger T, Chumchalova J, Grombirikova H, Sediva A. Cost-effective genotyping of human MBL2 gene mutations using multiplex PCR. J Immunol Methods 2004: 295: 139-47.
12. Ferraroni NR, Segat L, Guimaraes RL et al. Mannose-binding lectin and MBL-associated serine protease-2 gene polymorphisms in a Brazilian population from Rio de Janeiro. Int J Immunogenet 2012: 39: 32-8.
13. Steffensen R, Hoffmann K, Varming K. Rapid genotyping of MBL2 gene mutations using real-time PCR with fluorescent hybridisation probes. J Immunol Methods 2003: 278: 191-9.
14. Vossen RH, van Duijn M, Daha MR, den Dunnen JT, Roos A. High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysis. Hum Mutat 2010: 31: E1286-93.
15. Madsen HO, Satz ML, Hogh B, Svejgaard A, Garred P. Different molecular events result in low protein levels of mannan-binding lectin in populations from southeast Africa and South America. J Immunol 1998: 161: 3169-75.
16. Minchinton RM, Dean MM, Clark TR, Heatley S, Mullighan CG. Analysis of the relationship between mannose-binding lectin (MBL) genotype, MBL levels and function in an Australian blood donor population. Scand J Immunol 2002: 56: 630-41.
17. Ip WK, To YF, Cheng SK, Lau YL. Serum mannose-binding lectin levels and mbl2 gene polymorphisms in different age and gender groups of southern Chinese adults. Scand J Immunol 2004: 59: 310-4.
18. Lee YH, Witte T, Momot T et al. The mannose-binding lectin gene polymorphisms and systemic lupus erythematosus: two case-control studies and a meta-analysis. Arthritis Rheum 2005: 52: 3966-74.
19. Naito H, Ikeda A, Hasegawa K et al. Characterization of human serum mannan-binding protein promoter. J Biochem 1999: 126: 1004-12.
20. Ivanova M, Ruiqing J, Matsushita M et al. MBL2 single nucleotide polymorphism diversity among four ethnic groups as revealed by a bead-based liquid array profiling. Hum Immunol 2008: 69: 877-84.
21. Munster JM, van der Bij W, Breukink MB et al. Association between donor MBL promoter haplotype and graft survival and the development of BOS after lung transplantation. Transplantation 2008: 86: 1857-63.
22. Boldt AB, Messias-Reason IJ, Meyer D et al. Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes. BMC Genet 2010: 11: 38.
23. Antony JS, Ojurongbe O, van Tong H et al. Mannose-binding lectin and susceptibility to schistosomiasis. J Infect Dis 2013: 207: 1675-83.
24. Boldt AB, Luty A, Grobusch MP et al. Association of a new mannose-binding lectin variant with severe malaria in Gabonese children. Genes Immun 2006: 7: 393-400.
25. Garred P, Larsen F, Madsen HO, Koch C. Mannose-binding lectin deficiency - revisited. Mol Immunol 2003: 40: 73-84.
26. Swierzko AS, Szala A, Cedzynski M et al. Mannan-binding lectin genotypes and genotype-phenotype relationships in a large cohort of Polish neonates. Hum Immunol 2009: 70: 68-72.
27. Thiel S, Bjerke T, Hansen D, Poulsen LK, Schiotz PO, Jensenius JC. Ontogeny of human mannan-binding protein: a lectin of the innate immune system. Pediatr Allergy Immunol 1995: 6: 20-3.