Mannose binding lectin gene (MBL2) functional polymorphisms are associated with systemic lupus erythematosus in southern Brazilians

Human Immunology

Volumn 72, Issue 6, 2011, Pages 516-521

  Sandrin Garcia, Paula ^a   Brandão, Lucas André Cavalcanti ^a   Coelho, Antônio Victor Campos ^a   Guimarães, Rafael Lima ^a   Pancoto, João Alexandre Trés ^b   Segat, Ludovica ^c   Donadi, Eduardo Antônio ^b   de Lima Filho, José Luiz ^a   Crovella, Sergio ^a,c  

^a FEDERAL UNIVERSITY OF PERNAMBUCO   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

Author keywords

Antiphospholipid syndrome; Mannose binding lectin; MBL2 gene polymorphisms; Nephritic disorders; Systemic lupus erythematosus

Indexed keywords

MANNOSE BINDING LECTIN 2;

ADOLESCENT; ADULT; AGED; ANTIPHOSPHOLIPID SYNDROME; ARTICLE; BRAZIL; CONTROLLED STUDY; DNA POLYMORPHISM; EXON; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NEPHRITIS; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN SYNTHESIS; RISK FACTOR; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADOLESCENT; ADULT; AGED; BRAZIL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MANNOSE-BINDING LECTIN; MIDDLE AGED; POLYMORPHISM, GENETIC; POPULATION GROUPS; PROMOTER REGIONS, GENETIC;

EID: 79955769529     PISSN: 01988859     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.humimm.2011.03.007     Document Type: Article

References (31)

1. Monticielo O.A., Mucenic T., Xavier R.M., Brenol J.C., Chies J.A. The role of mannose-binding lectin in systemic lupus erythematosus. Clin Rheumatol 2008, 27:413-419.
2. Gregersen P.K., Behrens T.W. Genetics of autoimmune diseases - disorders of immune homeostasis. Nat Rev Genet 2006, 7:917-928.
3. Sandrin-Garcia P., Junta C.M., Fachin A.L., Mello S.S., Baião A.M.T., Rassi D.M., et al. Shared and unique gene expression in systemic lupus erythematosus depending on disease activity. Ann N Y Acad Sci 2009, 1173:493-500.
4. Garred P., Larsen F., Madsen H.O., Koch C. Mannose-binding lectin deficiency-revisited. Mol Immunol 2003, 40:73-84.
5. Garred P., Madsen H.O., Hofmann B., Svejgaard A. Increased frequency of homozygosity of abnormal Mannan-binding-protein alleles in patients with suspected immunodeficiency. Lancet 1995, 346:941-943.
6. Summerfield J.A., Sumiya M., Levin M., Turner M.W. Association of mutations in mannose binding protein gene with childhood infection in consecutive hospital series. Br Med J 1997, 314:1229-1232.
7. 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, 155:3013-3020.
8. Bouwman L.H., Roep B.O., Roos A. Mannose-binding lectin: Clinical implications for infection, transplantation, and autoimmunity. Hum Immunol 2006, 67:247-256.
9. Madsen H.O., Satz M.L., 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, 161:3169-3175.
10. Tsutsumi A., Takahashi R., Sumida T. Mannose binding lectin: Genetics and autoimmune disease. Autoimmun Rev 2005, 4:364-372.
11. Garred P., Madsen H.O., Halberg P., Petersen J., Kronborg G., Svejgaard A., et al. Mannose-binding lectin polymorphisms and susceptibility to infection in systemic lupus erythematosus. Arthritis Rheum 1999, 42:2145-2152.
12. Garred P., Voss A., Madsen H.O., Junker P. Association of mannose-binding lectin gene variation with disease severity and infections in a population-based cohort of systemic lupus erythematosus patients. Genes Immun 2001, 2:442-450.
13. Tsutsumi A., Sasaki K., Wakamiya N., Ichikawa K., Atsumi T., Ohtani K., et al. Mannose-binding lectin gene: Polymorphisms in Japanese patients with systemic lupus erythematosus, rheumatoid arthritis and Sjogren's syndrome. Genes Immunol 2001, 2:99-104.
14. Takahashi R., Tsutsumi A., Ohtani K., Muraki Y., Goto D., Matsumoto I., et al. Association of mannose binding lectin (MBL) gene polymorphism and serum MBL concentration with characteristics and progression of systemic lupus erythematosus. Ann Rheum Dis 2005, 64:311-314.
15. Lee Y.H., Witte T., Momot T., Schmidt R.E., Kaufman K.M., Harley J.B., et al. The mannose-binding lectin gene polymorphisms and systemic lupus erythematosus: Two case-control studies and a meta-analysis. Arthritis Rheum 2005, 52:3966-3974.
16. Monticielo O.A., Chies J.A., Mucenic T., Rucatti G.G., Júnior J.M., da Silva G.K., et al. Mannose-binding lectin gene polymorphisms in Brazilian patients with systemic lupus erythematosus. Lupus 2010, 19:280-287.
17. Horiuchi T., Tsukamoto H., Morita C., Sawabe T., Harashima S., Nakashima H., et al. Mannose binding lectin (MBL) gene mutation is not a risk factor for systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Japanese. Genes Immun 2000, 1:464-466.
18. Momot T., Ahmadi-Simab K., Gause A., Gross W.L., Gromnica-Ihle E., Peter H.H., et al. Lack of association of mannose binding lectin variant alleles with systemic lupus erythematosus. Ann Rheum Dis 2006, 65:278-279.
19. Øhlenschlaeger T., Garred P., Madsen H.O., Jacobsen S. Mannose-binding lectin variant alleles and the risk of arterial thrombosis in systemic lupus erythematosus. N Engl J Med 2004, 351:260-267.
20. Font J., Ramos-Casals M., Brito-Zerón P., Nardi N., Ibañez A., Suarez B., et al. Association of mannose-binding lectin gene polymorphisms with antiphospholipid syndrome, cardiovascular disease and chronic damage in patients with systemic lupus erythematosus. Rheumatology 2007, 46:76-80.
21. Torres-Salido M., Cortés-Hernández J., Balada E., Tarrés M.V., Ordi-Ros J. Systemic lupus erythematosus as a first presentation of common variable immunodeficiency associated with infrequent mannose-binding lectin gene polymorphisms. Rheumatol Int 2009, 23:1-5.
22. Jakab L., Laki J., Sallai K., Temesszentandrási G., Pozsonyi T., Kalabay L., et al. Association between early onset and organ manifestations of systemic lupus erythematosus (SLE) and a down-regulating promoter polymorphism in the MBL2 gene. Clin Immunol 2007, 125:230-236.
23. Villarreal J., Crosdale D., Ollier W., Hajeer A., Thomson W., Ordi J., et al. Mannose binding lectin and FcgammaRIIa (CD32) polymorphism in Spanish systemic lupus erythematosus patients. Rheumatology 2001, 40:1009-1012.
24. Vargas A.E., Marrero A.R., Salzano F.M., Bortolini M.C., Chies J.A. Frequency of CCR5delta32 in Brazilian populations. Braz J Med Biol Res 2006, 39:321-325.
25. Veit T.D., Cordero E.A., Mucenic T., Monticielo O.A., Brenol J.C., Xavier R.M., et al. Association of the HLA-G 14 bp polymorphism with systemic lupus erythematosus. Lupus 2009, 18:424-430.
26. Sambrook J., Fritch E.F., Maniatis T. Molecular Cloning-A Laboratory Manual 1989, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY. (ed. 2).
27. Arraes L.C., de Souza P.R., Bruneska D., Castelo Filho A., Cavada Bde S., de Lima Filho J.L., et al. A cost-effective melting temperature assay for the detection of single-nucleotide polymorphism in the MBL2 gene of HIV-1-infected children. Braz J Med Biol Res 2006, 39:719-723.
28. Excoffier L.G., Laval, Schneider S. Arlequin ver. 3.0: An integrated software package for population genetics data analysis. Evol Bioinform Online 2005, 1:47-50.
29. Faul F., Erdfelder E., Lang A.G., Buchner A.G. *Power 3: A flexible statistical power analysis for the social, behavioral, and biomedical sciences. Behav Res Methods 2007, 39:175-191.
30. Calvo-Alén J., Alarcón G.S., Tew M.B., Tan F.K., McGwin G., Fessler B.J., et al. Systemic lupus erythematosus in a multiethnic US cohort: XXXIV. Deficient mannose-binding lectin exon 1 polymorphisms are associated with cerebrovascular but not with other arterial thrombotic events. Arthritis Rheum 2006, 54:1940-1945.
31. Troelsen L.N., Garred P., Madsen H.O., Jacobsen S. Genetically determined high serum levels of mannose-binding lectin and agalactosyl IgG are associated with ischemic heart disease in rheumatoid arthritis. Arthritis Rheum 2007, 56:21-29.