The variant of CD11b, rs1143679 within ITGAM, is associated with systemic lupus erythematosus and clinical manifestations in Brazilian patients

Human Immunology

Volumn 75, Issue 2, 2014, Pages 119-123

  Toller Kawahisa, Juliana Escher ^a   Vigato Ferreira, Isabel Cristina Costa ^a   Pancoto, João Alexandre Trés ^b   Mendes Junior, Celso Teixeira ^a   Martinez, Edson Zangiacomi ^a   Palomino, Gustavo Martelli ^a   Louzada Júnior, Paulo ^a   Donadi, Eduardo AntÔnio ^a   Del Lama, José Eduardo Cavalcanti ^a   Marzocchi Machado, Cleni Mara ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b FEDERAL UNIVERSITY OF ESPÍRITO SANTO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CD11B ANTIGEN; PHOSPHOLIPID ANTIBODY; ITGAM PROTEIN, HUMAN;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE FREQUENCY; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; ITGAM GENE; LUPUS ERYTHEMATOSUS NEPHRITIS; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD; MIDDLE AGED; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SYSTEMIC LUPUS ERYTHEMATOSUS; AGED; ANTIBODY PRODUCTION; BLOOD; BRAZIL; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; IMMUNOLOGY; NEPHRITIS; NUCLEOTIDE SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; ANTIBODIES, ANTIPHOSPHOLIPID; ANTIBODY FORMATION; ANTIGENS, CD11B; BRAZIL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MIDDLE AGED; NEPHRITIS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84892367889     PISSN: 01988859     EISSN: 18791166     Source Type: Journal    
DOI: 10.1016/j.humimm.2013.11.013     Document Type: Article

References (38)

1. Tsokos G.C. Systemic lupus erythematosus. N Engl J Med 2011, 365:2110-2121.
2. Taylor K.E., Chung S.A., Graham R.R., Ortmann W.A., Lee A.T., Langefeld C.D., et al. Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes. PLoS Genet 2011, 7:e1001311.
3. Li X., Ptacek T.S., Brown E.E., Edberg J.C. Fcgamma receptors: structure, function and role as genetic risk factors in SLE. Genes Immun 2009, 10:380-389.
4. Davies K.A. Complement, immune complexes and systemic lupus erythematosus. Br J Rheumatol 1996, 35:5-23.
5. Hebert L.A. The clearance of immune complexes from the circulation of man and other primates. Am J Kidney Dis 1991, 17:352-361.
6. Mantovani B. Different roles of IgG and complement receptors in phagocytosis by polymorphonuclear leukocytes. J Immunol 1975, 115:15-17.
7. Fagerholm S.C., MacPherson M., James M.J., Sevier-Guy C., Lau C.S. The CD11b-integrin (ITGAM) and systemic lupus. Lupus 2013, 22:657-663.
8. Köhl J. Self, non-self, and danger: a complementary view. Adv Exp Med Biol 2006, 586:71-94.
9. Fagerholm S.C., Varis M., Stefanidakis M., Hilden T.J., Gahmberg C.G. Alpha-Chain phosphorylation of the human leukocyte CD11b/CD18 (Mac-1) integrin is pivotal for integrin activation to bind ICAMs and leukocyte extravasation. Blood 2006, 108:3379-3386.
10. Han S., Kim-Howard X., Deshmukh H., Kamatani Y., Viswanathan P., Guthridge J.M., et al. Evaluation of imputation-based association in and around the integrin-a-M (ITGAM) gene and replication of robust association between a nonsynonymous functional variant within ITGAM and systemic lupus erythematosus (SLE). Hum Mol Genet 2009, 18:1171-1180.
11. Marzocchi-Machado C.M., Alves C.M., Azzolini A.E., Polizello A.C., Carvalho I.F., Lucisano-Valim Y.M. Fcgamma and complement receptors: expression, role and co-operation in mediating the oxidative burst and degranulation of neutrophils of Brazilian systemic lupus erythematosus patients. Lupus 2002, 11:240-248.
12. Marzocchi-Machado C.M., Alves C.M., Azzolini A.E., Polizello A.C., Carvalho I.F., Lucisano-Valim Y.M. CR1 on erythrocytes of Brazilian systemic lupus erythematosus patients: the influence of disease activity on expression and ability of this receptor to bind immune complexes opsonized with complement from normal human serum. J Autoimmun 2005, 25:289-297.
13. Fossati-Jimack L., Ling G.S., Cortini A., Szajna M., Malik T.H., McDonald J.U., et al. Phagocytosis is the main CR3-mediated function affected by the lupus-associated variant of CD11b in human myeloid cells. PLoS One 2013, 8:e57082.
14. International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN), Harley JB, Alarcón-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, et al. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 2008;40:204-10.
15. Nath S.K., Han S., Kim-Howard X., Kelly J.A., Viswanathan P., Gilkeson G.S., et al. A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus. Nat Genet 2008, 40:152-154.
16. Sanchez E., Webb R.D., Rasmussen A., Kelly J.A., Riba L., Kaufman K.M., et al. Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus. Arthritis Rheum 2010, 62:3722-3729.
17. Tan E.M., Cohen A.S., Fries J.F., Masi A.T., McShane D.J., Rothfield N.F., et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982, 25:1271-1277.
18. Miller A.S., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988, 16:1215.
19. Clague H.D., Fung Y.L., Minchinton R.M. Human neutrophil antigen-4a gene frequencies in an Australian population, determined by a new polymerase chain reaction method using sequence-specific primers. Transfus Med 2003, 13:149-152.
20. Agresti A. An Introduction to Categorical Data Analysis 2007, Wiley-Interscience, New York. 2nd ed.
21. Rousset F. Genepop'007: a complete reimplementation of the Genepop software for Windows and Linux. Mol Ecol Resour 2008, 8:103-106.
22. Anaya J.M., Kim-Howard X., Prahalad S., Cherñavsky A., Cañas C., Rojas-Villarraga A., et al. Evaluation of genetic association between an ITGAM non-synonymous SNP [rs1143679] and multiple autoimmune diseases. Autoimmun Rev 2012, 11:276-280.
23. Fan Y., Li L.H., Pan H.F., Tao J.H., Sun Z.Q., Ye D.Q. Association of ITGAM polymorphism with systemic lupus erythematosus: a meta-analysis. J Eur Acad Dermatol Venereol 2011, 25:271-275.
24. Molineros J.E., Kim-Howard X., Deshmukh H., Jacob C.O., Harley J.B., Nath S.K. Admixture in Hispanic Americans: its impact on ITGAM association and implications for admixture mapping in SLE. Genes Immun 2009, 10:539-545.
25. Zhou M., Todd R.F., van de Winkel J.G., Petty H.R. Cocapping of the leukoadhesin molecules complement receptor type 3 and lymphocyte function-associated antigen-1 with Fc gamma receptor III on human neutrophils: possible role of lectin-like interactions. J Immunol 1993, 150:3030-3041.
26. Sachs U.J.H., Chavakis T., Fung L., Lohrenz A., Bux J., Reil A., et al. Human alloantibody anti-Mart interferes with Mac1-dependent leukocyte adhesion. Blood 2004, 104:727-734.
27. Ohkuro M., Ogura-Masaki M., Kobayashi K., Sakai M., Takahashi K., Nagasawa S., et al. Effect of iC3b binding to immune complexes upon the phagocytic response of human neutrophils: synergistic functions between Fc gamma R and CR3. FEBS Lett 1995, 373:189-192.
28. Diamond MS, Staunton DE, deFougerolles AR, Stacker SA, Garcia-Aguilar J, Hibbs ML ICAM-1 (CD54): A counter-receptor for Mac-1 (CD11b/CD18). J Cell Biol 1990, 111:3129-3139.
29. Yang W., Zhao M., Hirankarn N., Lau C.S., Mok C.C., Chan T.M., et al. ITGAM is associated with disease susceptibility and renal nephritis of systemic lupus erythematosus in HongKong, Chinese and Thai. Hum Mol Genet 2009, 18:2063-2070.
30. Sanchez E., Nadig A., Richardson B.C., Freedman B.I., Kaufman K.M., Kelly J.A., et al. Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus. Ann Rheum Dis 2011, 70:1752-1757.
31. D'Agati V.D., Appel G.B., Estes D., Knowles D.M., Pirani C.L. Monoclonal antibody identification of infiltrating mononuclear leukocytes in lupus nephritis. Kidney Int 1986, 30:573-581.
32. Lhotta K., Neumayer H.P., Joannidis M., Geissler D., König P. Renal expression of intercellular adhesion molecule-1 in different forms of glomerulonephritis. Clin Sci (London) 1991, 81:477-481.
33. Gladigau G., Haselmayer P., Scharrer I., Munder M., Prinz N., Lackner K., et al. A role for Toll-like receptor mediated signals in neutrophils in the pathogenesis of the anti-phospholipid syndrome. PLoS One 2012, 7:e42176.
34. Calamia K.T., Balabanova M. Vasculitis in systemic lupus erythematosis. Clin Dermatol 2004, 22:148-156.
35. Alarcon-Segovia D., Cardiel M.H., Reyes E. Antiphospholipid arterial vasculopathy. J Rheumatol 1989, 16:762-767.
36. Cid M.C. Endothelial cell biology, perivascular inflammation, and vasculitis. Cleve Clin J Med 2002, 69:SII45-SII49.
37. Kaplan M.J. Premature vascular damage in systemic lupus erythematosus: an imbalance of damage and repair?. Transl Res 2009, 154:61-69.
38. Lessard C.J., Ice J.A., Adrianto I., Wiley G.B., Kelly J.A., Gaffney P.M., et al. The genomics of autoimmune disease in the era of genome-wide association studies and beyond. Autoimmun Rev 2012, 11:267-275.