Association of variant alleles of MBL2 gene with vasoocclusive crisis in children with sickle cell anemia

Blood Cells, Molecules, and Diseases

Volumn 44, Issue 4, 2010, Pages 224-228

  Mendonca T F ^a   Oliveira, M C V C ^b   Vasconcelos, L R S ^c   Pereira, L M M B ^a,c   Moura, P ^a   Bezerra, M A C ^b   Santos, M N N ^b   Araujo A S ^b   Cavalcanti, M S M ^a  

^a FEDERAL UNIVERSITY OF PERNAMBUCO   (Brazil)

^b Hematology and Hemotherapy Center HEMOPE Foundation   (Brazil)

^c Liver Institute of Pernambuco IFP PE   (Brazil)

Author keywords

MBL2; Polymorphism; Real Time PCR; Sickle cell anemia; Vasoocclusive crisis

Indexed keywords

MANNOSE BINDING LECTIN 2;

ALLELE; ARTICLE; CHILD; CONTROLLED STUDY; DNA POLYMORPHISM; ERYTHROCYTE; EXON; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN BLOOD LEVEL; SICKLE CELL ANEMIA;

ALLELES; ANEMIA, SICKLE CELL; CHILD; CHILD, PRESCHOOL; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; INFANT; INFARCTION; ISCHEMIA; MALE; MANNOSE-BINDING LECTIN; PROMOTER REGIONS, GENETIC; SEVERITY OF ILLNESS INDEX; VASCULAR DISEASES;

EID: 77950300877     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2010.02.004     Document Type: Article

References (45)

1. Platt O.S. Sickle cell anemia as an inflammatory disease. J. Clin. Invest. 2000, 106:337-338.
2. Johnson C., Telen M.J. Adhesion molecules and hydroxyurea in the pathophysiology of sickle cell disease. Haematologica 2008, 93:481-485.
3. Wilson W.A., Thomas E.J., Sissons J.P.G. Complement activation in asymptomatic patients with sickle cell anaemia. Clin. Exp. Immunol. 1979, 36:130-139.
4. Winkelstein J.A., Drachman R.H. Deficiency of pneumococcal serum opsonizing activity in sickle-cell disease. N. Engl. J. Med. 1968, 279:459-466.
5. Arese P., Turrini F., Bussolino F., et al. Recognition signals for phagocytic removal of favic malaria-infected and sickled erythrocytes. Adv. Exp. Med. Biol. 1991, 307:317-327.
6. Wang R.H., Phillips G., Medof M.E., Mold C. Activation of the alternative complement pathway by exposure of phosphatidylethanolamine and phosphatidylserine on erythrocytes from sickle cell disease patients. J. Clin. Invest. 1993, 92:1326-1335.
7. Turner M.W., Dinan L., Heatley S., et al. Restricted polymorphism of the mannose-binding lectin gene of indigenous Australians. Hum. Mol. Genet. 2000, 9:1481-1486.
8. Worthley D.L., Bardy P.G., Mullighan C.G. Mannose-binding lectin: biology and clinical implication. Intern. Med. J. 2005, 35:548-555.
9. Takahashi K., Ip W.E., Michelow I.C., Ezekowitz R.A. The mannose-binding lectin: a prototypic pattern recognition molecule. Curr. Opin. Immunol. 2006, 18:16-23.
10. Turner M.W., Hamvas R.M. Mannose-binding lectin: structure, function, genetics and disease associations. Rev. Immunogenet. 2000, 2:305-322.
11. Minchinton R.M., Dean M.M., Clark T.R., Heatley S., Mullighan C.G. Analysis of the relationship between mannose-binding lectin (MBL) genotype, MBL levels and function in an Australian blood donor population. Scand. J. Immunol. 2002, 56:630-641.
12. Turner M.W. The role of mannose-binding lectin in health and disease. Mol. Immunol. 2003, 40:423-429.
13. Mangano A., Rocco C., Marino S., et al. Detrimental effects of mannose-binding lectin (MBL2) promoter genotype XA/XA on HIV-1 vertical transmission and Aids progression. J. Infect. Dis. 2008, 198:694-700.
14. Madsen H.O., Garred P., Thiel S., et al. Interplay between promoter and structural gene variants control basal serum level of mannan-binding protein. J. Immunol. 1995, 155:3013-3020.
15. Garred P., Larsen F., Madsen H.O., Koch C. Mannose-binding lectin deficiency revisited. Mol. Immunol. 2003, 40:73-84.
16. Turner M.W. Mannose-binding lectin (MBL) in health and disease. Immunobiology 1998, 199:327-339.
17. Gordon A.C., Waheed U., Hansen T.K., et al. Mannose-binding lectin polymorphisms in severe sepsis: relationship to levels, incidence, and outcome. Shock 2006, 25:88-93.
18. Koch A., Melbye M., Sørensen P., et al. Acute respiratory tract infections and mannose-binding lectin insufficiency during early childhood. JAMA 2001, 285:1316-1321.
19. Tsutsumi A., Takahashi R., Sumida T. Mannose-binding lectin: genetics and autoimmune disease. Autoimmun. Rev. 2005, 4:364-372.
20. Best L.G., Davidson M., North K.E., et al. Prospective analysis of mannose-binding lectin genotypes and coronary artery disease in American Indians: the Strong Heart Study. Circulation 2004, 109:471-475.
21. Madsen H.O., Videm V., Svejgaard A., Svennevig J.L., Garred P. Association of mannose-binding-lectin deficiency with severe atherosclerosis [letter]. Lancet 1998, 352:959-960.
22. Øhlenschlæger T., Garred P., Madsen H.O., Jacobsen H.O.S. Mannose-binding lectin variant alleles and the risk of arterial thrombosis in systemic lupus erythematosus. N. Engl. J. Med. 2004, 351:260-267.
23. Dornelles L.N., Pereira-Ferrari L., Messias-Reason I. Mannan-binding lectin plasma levels in leprosy: deficiency confers protection against the lepromatous but not the tuberculoid forms. Clin. Exp. Immunol. 2006, 145:463-468.
24. Santos I.K., Costa C.H., Krieger H., et al. Mannan-binding lectin enhances susceptibility to visceral leishmaniasis. Infect. Immun. 2001, 69:5212-5215.
25. Ghiran I., Barbashov S.F., Klickstein L.B., et al. Complement receptor 1/CD35 is a receptor for mannan-binding lectin. J. Exp. Med. 2000, 192:1797-1808.
26. Malhotra R., Thiel S., Reid K.B.M., Sim R.B. Human leukocyte MBL in Sepsis 205 C1q receptor binds other soluble proteins with collagen domains. J. Exp. Med. 1990, 172:955-959.
27. Fraser D.A., Bohlson S.S., Jasinskiene N., et al. C1q and MBL, components of the innate immune system, influence monocyte cytokine expression. J. Leukoc. Biol. 2006, 80:107-116.
28. Collard C.D., Montalto M.C., Reenstra W.R., Buras J.A., Stahl G.L. Endothelial oxidative stress activates the lectin complement pathway role of cytokeratin 1. Am. J. Pathol. 2001, 159:1045-1054.
29. Neonato M.G., Lu C.Y., Guilloud-bataille M., et al. Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of the three new variant alleles and relationship to infections. Eur. J. Hum. Genet. 1999, 7:679-686.
30. Oliveira M.C.V.C., Mendonça T.F., Vasconcelos L.R.S., et al. Association of the MBL2 gene exon 1 polymorphism and vasoocclusive crisis in patients with sickle cell anemia. Acta Haematol. 2009, 121:212-215.
31. Isola J., Devries S., Chu L., Chazvini S., Waldman F. Analysis of changes in DNA sequence copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples. Am. J. Pathol. 1994, 145:1301-1308.
32. Hladnik U., Braida L., Boniotto M., et al. Single-tube genotyping of MBL-2 polymorphisms using melting temperature analysis. Clin. Exp. Med. 2002, 2:105-108.
33. Schneider S., Roessli D., Excoffier L. Arlequin: a software for population genetic data analysis [Computer Program] 2000, Genetics and Biometry Laboratory, University of Geneva, Geneva.
34. Garred P., Larsen F., Seyfarth J., Fujita R., Madsen H.O. Mannose-binding lectin and its genetic variants. Genes Immun. 2006, 7:85-94.
35. Boldt A.B., Culpi L., Tsuneto L.T., et al. Diversity of the MBL2 gene in various brazilian populations and the case of selection at the mannose-binding lectin locus. Hum. Immunol. 2006, 67:722-734.
36. Kruglyak L., Nickerson D.A. Variation is the spice of life. Nat. Genet. 2001, 27:234-236.
37. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 2001, 409:928-933. The International SNP Map Working Group.
38. ′-globin gene haplotype, co-inherited α-thalassemi trait and HbF on steady-state serum bilirubin levels in sickle cell anemia. Eur. J. Haematol. 2005, 75:150-155.
39. Dossou-Yovo O.P., Zaccaria I., Benkerrou M., et al. Effects of RANTES and MBL2 gene polymorphisms in sickle cell disease clinical outcomes: association of the g.In1.1T>C RANTES variant with protection against infections. Am. J. Hematol. 2009, 84:378-380.
40. Calvo-Alén J., Alarcón G.S., Tew M.B., 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, 54:1940-1956.
41. Walsh M.C., Bourcier T., Takahashi K. Mannose-binding lectin is a regulator of inflammation that accompanies myocardial ischemia and reperfusion injury. J Immunol. 2005, 175:541-546.
42. Rugonfalvi-Kiss S., Endrész V., Madsen H.O., Jacobsen S. Association of chlamydia pneumoniae with coronary artery disease and its progression is dependent on the modifying effect of mannose-binding lectin. Circulation 2002, 106:1071-1076.
43. Saevarsdottir S., Oskarsson O.O., Aspelund T., et al. Mannan-binding lectin as an adjunct to risk assessment for myocardial infarction in individuals with enhanced risk. J. Exp. Med. 2005, 201:117-125.
44. Vichinsky E.P., Neumayr L.D., Earles A.N., et al. Causes and outcomes of the acute chest syndrome in sickle cell disease. N. Engl. J. Med. 2000, 342:1855-1865.
45. Garred P., Nielson M.A., Kurtzhals J.A.L., et al. Mannose-binding lectin is a disease modifier in clinical malaria and may function as opsonin for plasmodium falciparum-infected erythrocytes. Infect. Immun. 2003, 71:5245-5253.