MBL2 single nucleotide polymorphism diversity among four ethnic groups as revealed by a bead-based liquid array profiling

Human Immunology

Volumn 69, Issue 12, 2008, Pages 877-884

  Ivanova, Milena ^a,c   Ruiqing, Ju ^b,c   Matsushita, Masaki ^d   Ogawa, Takahiro ^d   Kawai, Shintaro ^d   Ochiai, Naoya ^c   Shivarov, Velizar ^e   Maruya, Etsuko ^c   Saji, Hiroh ^c  

^a UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^b Chonchun Blood Center   (China)

^c Japanese Red Cross Kanto Koshinetsu Block Blood Center   (Japan)

^d WAKUNAGA PHARMACEUTICAL CO LTD   (Japan)

^e National Hematology Hospital   (Bulgaria)

Author keywords

Ethnic groups; MBL2 polymorphism; Multiplexed microsphere based suspension array platform

Indexed keywords

MANNOSE BINDING LECTIN 2;

5' UNTRANSLATED REGION; AFRICAN AMERICAN; ALLELE; ARTICLE; ASIAN; CAUCASIAN; COMPLEMENT ACTIVATION; CONTROLLED STUDY; ETHNIC GROUP; EXON; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HISPANIC; HOMOZYGOSITY; HUMAN; INNATE IMMUNITY; JAPANESE; MICROARRAY ANALYSIS; OPSONIZATION; PREVALENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM;

5' UNTRANSLATED REGIONS; AUTOIMMUNE DISEASES; CONTINENTAL POPULATION GROUPS; EXONS; GENE EXPRESSION PROFILING; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNITY, INNATE; IMMUNOMAGNETIC SEPARATION; INFECTION; MANNOSE-BINDING LECTIN; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; UNITED STATES;

EID: 57649083315     PISSN: 01988859     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.humimm.2008.09.007     Document Type: Article

References (48)

1. Turner M.W. Mannose-binding lectin: The pluripotent molecule of the innate immune system. Immunol Today 17 (1996) 532-540
2. Petersen SV T.S., Jensen L., Steffensen R., and Jensenius J.C. An assay for the mannan-binding lectin pathway of complement activation. J Immunol Methods 257 (2001) 107-116
3. Wallis R D.K. Molecular determinants of oligomer formation and complement fixation in mannose-binding proteins. J Biol Chem 274 (1999) 3580-3589
4. Sastry K.H.G., Day L., Deignan E., Bruns G., Morton C.C., and Ezekowitz R.A. 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 170 (1989) 1175-1189
5. Lipscombe RJ S.M., Hill A.V., Lau Y.L., Levinsky R.J., Summerfield J.A., and Turner M.W. High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene. Hum Mol Genet 1 (1992) 709-715
6. Madsen HO G.P., Kurtzhals J.A., Lamm L.U., Ryder L.P., Thiel S., and Svejgaard A. A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein. Immunogenetics 40 (1994) 37-44
7. Sumiya M.S.M., Tabona P., Levinsky R.J., Arai T., Turner M.W., and Summerfield J.A. Molecular basis of opsonic defect in immunodeficient children. Lancet 337 (1991) 1569-1570
8. Madsen HO G.P., Thiel S., Kurtzhals J.A., Lamm L.U., Ryder L.P., and Svejgaard A. Interplay between promoter and structural gene variants control basal serum levelof mannan-binding protein. J Immunol 155 (1995) 3013-3020
9. Madsen HO S.M., Hogh B., Svejgaard A., and Garred P. Different molecular events result in low protein levels of mannan-binding lectin in populations from southeast Africa and South America. J Immunol 161 (1998) 3169-3175
10. Cedzynski M.S.J., Swierzko A.S., Bak-Romaniszyn L., Banasik M., Zeman K., and Kilpatrick D.C. Mannan-binding lectin insufficiency in children with recurrent infections of the respiratory system. Clin Exp Immunol 136 (2004) 304-311
11. Hibberd ML S.M., Summerfield J.A., Booy R., Levin M., and Meningococcal Research Group. Association of variants of the gene for mannose-binding lectin with susceptibility to meningococcal disease. Lancet 353 (1999) 1049-1053
12. Koch A.M.M., Sørensen P., Homøe P., Madsen H.O., Mølbak K., Hansen C.H., Andersen LH H.G., and Garred P. Acute respiratory tract infections and mannose-binding lectin insufficiency during early childhood. JAMA 285 (2001) 1316-1321
13. Wiertsema SP H.B., Veenhoven R.H., Salimans M.M., Ruven H.J., Sanders E.A., and Rijkers G.T. Functional polymorphisms in the mannan-binding lectin 2 gene: Effect on MBL levels and otitis media. J Allergy Clin Immunol 117 (2006) 1344-1350
14. Boniotto M.C.S., Pirulli D., Scarlatti G., Spanò A., Vatta L., Zezlina S., Tovo P.A., Palomba E., and Amoroso A. Polymorphisms in the MBL2 promoter correlated with risk of HIV-1 vertical transmission and AIDS progression. Genes Immun 1 (2000) 346-348
15. Kuhn L.C.A., Trabattoni D., Archary D., Rossi T., Segat L., Clerici M., and Crovella S. Synergy between mannose-binding lectin gene polymorphisms and supplementation with vitamin A influences susceptibility to HIV infection in infants born to HIV-positive mothers. Am J Clin Nutr 84 (2006) 610-615
16. Maas J., Brouwer M., Krol A., Coutinho R., Keet I., van Leeuwen R., and Schuitemaker H. Presence of the variant mannose-binding lectin alleles associated with slower progression to AIDS. Amsterdam Cohort Study. dRHA. AIDS 12 (1998) 2275-2280
17. Madsen HO B.U., Hofmann B., Pedersen C., Gerstoft J., and Svejgaard A. Susceptibility to HIV infection and progression of AIDS in relation to variant alleles of mannose-binding lectin. Lancet 349 (1997) 236-240
18. Mullighan CG M.S., and Welsh K.I. Mannose binding lectin polymorphisms are associated with early age of disease onset and autoimmunity in common variable immunodeficiency. Scand J Immunol 51 (2000) 111-122
19. Vallinoto AC M.-C.M., Alves A.E., Machado L.F., de Azevedo V.N., Souza L.L., Ishak Mde O., and Ishak R. Mannose-binding lectin gene polymorphism and its impact on human immunodeficiency virus 1 infection. Mol Immunol 43 (2006) 1358-1362
20. Mølle I.S.R., Thiel S., and Peterslund N.A. Chemotherapy-related infections in patients with multiple myeloma: Associations with mannan-binding lectin genotypes. Eur J Haematol 77 (2006) 19-26
21. Neth O.H.I., Turner M.W., and Klein N. Deficiency of mannose-binding lectin and burden of infection in children with malignancy: A prospective study. Lancet 358 (2001) 614-618
22. Peterslund NA K.C., Jensenius J.C., and Thiel S. Association between deficiency of mannose-binding lectin and severe infections after chemotherapy. Lancet 358 (2001) 637-638
23. Granell M.U.-I.A., Suarez B., Rovira M., Fernández-Avilés F., Martínez C., Ortega M., et al. Mannan-binding lectin pathway deficiencies and invasive fungal infections following allogeneic stem cell transplantation. Exp Hematol 34 (2006) 1435-1441
24. Mullighan CG H.S., Doherty K., Szabo F., Grigg A., Hughes T.P., Schwarer A.P., et al. Mannose-binding lectin gene polymorphisms are associated with major infection following allogeneic hemopoietic stem cell transplantation. Blood 99 (2002) 3524-3529
25. Garred P V.A., MAdsen H.O., Junker P., and Association of mannose-binding lectin gene variation with disease severity and infections in a population-based cohort of systemic lupus erythematosus patients. Genes Immun 2 (2001)
26. Lee YH W.T., Momot T., Schmidt R.E., Kaufman K.M., Harley J.B., and Sestak A.L. The mannose-binding lectin gene polymorphisms and systemic lupus erythematosus: Two case-control studies and a meta-analysis. Arthritis Rheum 52 (2005) 3966-3974
27. Øhlenschlaeger T.G.P., Madsen H.O., and Jacobsen S. Mannose-binding lectin variant alleles and the risk of arterial thrombosis in systemic lupus erythematosus. N Engl J Med 351 (2004) 260-267
28. Takahashi R.T.A., Ohtani K., Muraki Y., Goto D., Matsumoto I., Wakamiya N., and Sumida T. Association of mannose binding lectin (MBL) gene polymorphism and serum MBL concentration with characteristics and progression of systemic lupus erythematosus. Ann Rheum Dis 64 (2005) 311-314
29. Graudal NA H.C., and Madsen H.O. Mannan binding lectin in rheumatoid arthritis. A longitudinal study. J Rheumatol 25 (1998) 629-635
30. Malhotra R.W.M., Rudd P.M., Fischer P.B., Dwek R.A., and Sim R.B. Glycosylation changes of IgG associated with rheumatoid arthritis can activate complement via the mannose-binding protein. Nat Med 1 (1995) 237-243
31. Roy S.K.K., Segal S., Griffiths D., Moore C.E., Welsh K.I., Smarason A., et al. Oxford Pneumoccocal Surveillance Group. MBL genotype and risk of invasive pneumococcal disease: A case-control study. Lancet 359 (2002) 1569-1573
32. Moens L.V.H.E., Peetermans W.E., De Boeck C., Verhaegen J., and Bossuyt X. Mannose-binding lectin genotype and invasive pneumococcal infection. Hum Immunol 67 (2006) 605-611
33. Van Hoeyveld E.H.F., Massonet C., Moens L., Van Ranst M., Blanckaert N., and Bossuyt X. Detection of single nucleotide polymorphisms in the mannose-binding lectin gene using minor groove binder-DNA probes. J Immunol Methods 287 (2004) 227
34. Biezeveld MH G.J., Weverling G.J., Kuipers I.M., Lam J., Ottenkamp J., and Kuijpers T.W. Polymorphisms in the mannose-binding lectin gene as determinants of age-defined risk of coronary artery lesions in Kawasaki disease. Arthritis Rheum 54 (2006) 369-376
35. Mullighan CG M.S., and Welsh K.I. Mannose binding lectin polymorphisms are associated with early age of disease onset and autoimmunity in common variable immunodeficiency. Scand J Immunol 51 (2000) 111-112
36. Steffensen R.T.S., Varming K., Jersild C., and Jensenius J.C. 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 241 (2000) 33-42
37. Fulton RJ M.R., Smith P.L., Kienker L.J., and Kettman Jr. J.R. Advanced multiplexed analysis with the FlowMetrix system. Clin Chem 43 (1997) 1749-1756
38. Oka T., Matsunaga H., Tokunaga K., Mitsunaga S., Juji T., and Yamane A. A simple method for detecting single base substitutions and its application to HLA-DPB1 typing. Nucl Acids Res 22 (1997) 1541-1547
39. Schneider S KJ, Roesseli, Excoffier L. Arlequin. 1.1 ed. Geneva: Genetics and Biometry Lab, Department of Anthropology, University of Geneva 1996: A software for population genetic analysis.
40. Slatkin M.E.L. Testing for linkage disequilibrium in genotypic data using the expectation-maximization algorithm. Heredity 76 (1996) 377-383
41. Boldt AB C.L., Tsuneto L.T., de Souza I.R., Kun J.F., and Petzl-Erler M.L. Diversity of the MBL2 gene in various Brazilian populations and the case of selection at the mannose-binding lectin locus. Hum Immunol 67 (2006) 722-734
42. Verdu P.B.L., Patin E., Gessain A., Cassar O., Kidd J.R., Kidd K.K., et al. Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles. Hum Mol Genet 15 (2006) 2650-2658
43. Lipscombe RJ B.D., Ganczakowski M., Goddard E.A., Jenkins T., Lau Y.L., Spurdle A.B., et al. Mutations in the human mannose-binding protein gene: Frequencies in several population groups. Eur J Hum Genet 4 (1996) 13
44. Turner MW D.L., Heatley S., Jack D.L., Boettcher B., Lester S., McCluskey J., and Roberton D. Restricted polymorphism of the mannose-binding lectin gene of indigenous Australians. Hum Mol Genet 1481 (2000)
45. Boldt AB P.-E.M. A new strategy for mannosebinding lectin gene haplotyping. Hum Mutat 19 (2002) 296
46. Skalnikova H.F.T., Chumchalova J., Grombirikova H., and Sediva A. Cost-effective genotyping of human MBL2 gene mutations using multiplex PCR. J Immunol Methods 295 (2004) 139
47. Garred P.H.M., Oettinger T., Koch C., and Svejgaard A. Dual role of mannan-binding protein in infections: Another case of heterosis?. Eur J Immunogenet 21 (1994) 125-131
48. Hoal-Van Helden EG E.J., Victor T.C., Hon D., Lewis L.A., Beyers N., Zurakowski D., et al. Mannose-binding protein B allele confers protection against tuberculous meningitis. Pediatr Res 45 (1999) 459-464