Role of the C8orf13-BLK region in biopsy-proven giant cell arteritis

Human Immunology

Volumn 71, Issue 5, 2010, Pages 525-529

  Torres, Orlando ^a   Palomino Morales, Rogelio ^a   Vazquez Rodriguez, Tomas R ^b   Castañeda, Santos ^c   Morado, Inmaculada C ^d   Miranda Filloy, Jose A ^b   Ortego Centeno, Norberto ^e   Fernandez Gutierrez, Benjamin ^d   Martin, Javier ^a   Gonzalez Gay, Miguel A ^f  

^a INSTITUTO DE PARASITOLOGÍA Y BIOMEDICINA LÓPEZ NEYRA   (Spain)

^b HOSPITAL XERAL CALDE   (Spain)

^c UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^d HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^e HOSPITAL UNIVERSITARIO SAN CECILIO   (Spain)

^f HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

Author keywords

C8orf13 BLK; Disease susceptibility; Gene polymorphism; Genetic studies; Giant cell arteritis

Indexed keywords

B LYMPHOID KINASE; DNA; PROTEIN TYROSINE KINASE; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; BLOOD VESSEL BIOPSY; CLINICAL FEATURE; CONTROLLED STUDY; DIPLOPIA; DISEASE SEVERITY; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; GIANT CELL ARTERITIS; HUMAN; ISCHEMIA; MAJOR CLINICAL STUDY; MALE; OPEN READING FRAME; PRIORITY JOURNAL; TRANSITIONAL BLINDNESS; VISUAL IMPAIRMENT; VISUAL ISCHEMIA;

AGED; AGED, 80 AND OVER; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GIANT CELL ARTERITIS; HUMANS; MALE; MIDDLE AGED; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-TYROSINE KINASES;

EID: 77951928104     PISSN: 01988859     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.humimm.2010.02.016     Document Type: Article

References (39)

1. Gonzalez-Gay M.A., Vazquez-Rodriguez T.R., Lopez-Diaz M.J., Miranda-Filloy J.A., Gonzalez-Juanatey C., Martin J., et al. Epidemiology of giant cell arteritis and polymyalgia rheumatica. Arthritis Rheum 2009, 61:1454-1461.
2. Levine S.M., Hellmann D.B. Giant cell arteritis. Curr Opin Rheumatol 2002, 14:3-10.
3. Salvarani C., Cantini F., Boiardi L., Hunder G.G. Polymyalgia rheumatica and giant-cell arteritis. N Engl J Med 2002, 347:261-271.
4. Weyand C.M., Goronzy J.J. Arterial wall injury in giant cell arteritis. Arthritis Rheum 1999, 42:844-853.
5. Gonzalez-Gay M.A., Barros S., Lopez-Diaz M.J., Garcia-Porrua C., Sanchez-Andrade A., Llorca J. Giant cell arteritis: Disease patterns of clinical presentation in a series of 240 patients. Medicine Baltimore 2005, 84:269-276.
6. Aiello P.D., Trautmann J.C., McPhee T.J., Kunselman A.R., Hunder G.G. Visual prognosis in giant cell arteritis. Ophthalmology 1993, 100:550-555.
7. Gonzalez-Gay M.A., Garcia-Porrua C., Llorca J., Hajeer A.H., Branas F., Dababneh A., et al. Visual manifestations of giant cell arteritis. Trends and clinical spectrum in 161 patients. Medicine Baltimore 2000, 79:283-292.
8. Gonzalez-Gay M.A. Giant cell arteritis and polymyalgia rheumatica: Two different but often overlapping conditions. Semin Arthritis Rheum 2004, 33:289-293.
9. Gonzalez-Gay M.A., Amoli M.M., Garcia-Porrua C., Ollier W.E. Genetic markers of disease susceptibility and severity in giant cell arteritis and polymyalgia rheumatica. Semin Arthritis Rheum 2003, 33:38-48.
10. Rodríguez-Pla A., Beaty T.H., Savino P.J., Eagle R.C., Seo P., Soloski M.J. Association of a nonsynonymous single-nucleotide polymorphism of matrix metalloproteinase 9 with giant cell arteritis. Arthritis Rheum 2008, 58:1849-1853.
11. Rueda B., Lopez-Nevot M.A., Lopez-Diaz M.J., Garcia-Porrua C., Martin J., Gonzalez-Gay M.A. A functional variant of vascular endothelial growth factor is associated with severe ischemic complications in giant cell arteritis. J Rheumatol 2005, 32:1737-1741.
12. Gonzalez-Gay M.A., Hajeer A.H., Dababneh A., Garcia-Porrua C., Amoli M.M., Llorca J., et al. Interferon-gamma gene microsatellite polymorphisms in patients with biopsy-proven giant cell arteritis and isolated polymyalgia rheumatica. Clin Exp Rheumatol 2004, 22:S18-S20.
13. Hom G., Graham R.R., Modrek B., Taylor K.E., Ortmann W., Garnier S., et al. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med 2008, 358:900-909.
14. Harley J.B., Alarcon-Riquelme M.E., Criswell L.A., Jacob C.O., Kimberly R.P., Moser K.L., 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, 40:204-210.
15. Ito I., Kawasaki A., Ito S., Hayashi T., Goto D., Matsumoto I., et al. Replication of the association between the C8orf13-BLK region and systemic lupus erythematosus in a Japanese population. Arthritis Rheum 2009, 60:553-558.
16. Gregersen P.K., Amos C.I., Lee A.T., Lu Y., Remmers E.F., Kastner D.L., et al. REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. Nat Genet 2009, 41:820-823.
17. Dymecki S.M., Zwollo P., Zeller K., Kuhajda F.P., Desiderio S.V. Structure and developmental regulation of the B-lymphoid tyrosine kinase gene blk. J Biol Chem 1992, 267:4815-4823.
18. Dymecki S.M., Niederhuber J.E., Desiderio S.V. Specific expression of a tyrosine kinase gene, blk, in B lymphoid cells. Science 1990, 247:332-336.
19. Drebin J.A., Hartzell S.W., Griffin C., Campbell M.J., Niederhuber J.E. Molecular cloning and chromosomal localization of the human homologue of a B-lymphocyte specific protein tyrosine kinase (blk). Oncogene 1995, 10:477-486.
20. Islam K.B., Rabbani H., Larsson C., Sanders R., Smith C.I. Molecular cloning, characterization, and chromosomal localization of a human lymphoid tyrosine kinase related to murine Blk. J Immunol 1995, 154:1265-1272.
21. Saijo K., Schmedt C., Su I.H., Karasuyama H., Lowell C.A., Reth M., et al. Essential role of Src-family protein tyrosine kinases in NF-kappaB activation during B cell development. Nat Immunol 2003, 4:274-279.
22. Tretter T., Ross A.E., Dordai D.I., Desiderio S. Mimicry of pre-B cell receptor signaling by activation of the tyrosine kinase Blk. J Exp Med 2003, 198:1863-1873.
23. Schmits R., Kubuschok B., Schuster S., Preuss K.D., Pfreundschuh M. Analysis of the B cell repertoire against autoantigens in patients with giant cell arteritis and polymyalgia rheumatica. Clin Exp Immunol 2002, 127:379-385.
24. Duhaut P., Berruyer M., Pinede L., Demolombe-Rague S., Loire R., Seydoux D., et al. Anticardiolipin antibodies and giant cell arteritis: A prospective, multicenter case-control study. Groupe de Recherche sur l'Arterite a Cellules Geantes. Arthritis Rheum 1998, 41:701-709.
25. Manna R., Latteri M., Cristiano G., Todaro L., Scuderi F., Gasbarrini G. Anticardiolipin antibodies in giant cell arteritis and polymyalgia rheumatica: A study of 40 cases. Br J Rheumatol 1998, 37:208-210.
26. Gourh P., Agarwal S.K., Martin E., Divecha D., Rueda B., Bunting H., et al. Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations. J Autoimmun 2010, 34:155-162.
27. Gonzalez-Gay M.A., Garcia-Porrua C., Llorca J., Gonzalez-Louzao C., Rodriguez-Ledo P. Biopsy-negative giant cell arteritis: Clinical spectrum and predictive factors for positive temporal artery biopsy. Semin Arthritis Rheum 2001, 30:249-256.
28. Gonzalez-Gay M.A., Vazquez-Rodriguez T.R., Gomez-Acebo I., Pego-Reigosa R., Lopez-Diaz M.J., Vazquez-Trinanes M.C., et al. Strokes at time of disease diagnosis in a series of 287 patients with biopsy-proven giant cell arteritis. Med Baltimore 2009, 88:227-235.
29. Lopez-Diaz M.J., Llorca J., Gonzalez-Juanatey C., Pena-Sagredo J.L., Martin J., Gonzalez-Gay M.A. The erythrocyte sedimentation rate is associated with the development of visual complications in biopsy-proven giant cell arteritis. Semin Arthritis Rheum 2008, 38:116-123.
30. Gonzalez-Gay M.A., Garcia-Porrua C., Vazquez-Caruncho M. Polymyalgia rheumatica in biopsy proven giant cell arteritis does not constitute a different subset but differs from isolated polymyalgia rheumatica. J Rheumatol 1998, 25:1750-1755.
31. Gonzalez-Gay M.A., Lopez-Diaz M.J., Barros S., Garcia-Porrua C., Sanchez-Andrade A., Paz-Carreira J., et al. Giant cell arteritis: Laboratory tests at the time of diagnosis in a series of 240 patients. Medicine Baltimore 2005, 84:277-290.
32. Gonzalez-Gay M.A., Pineiro A., Gomez-Gigirey A., Garcia-Porrua C., Pego-Reigosa R., Dierssen-Sotos T., et al. Influence of traditional risk factors of atherosclerosis in the development of severe ischemic complications in giant cell arteritis. Medicine Baltimore 2004, 83:342-347.
33. Gabriel S.B., Schaffner S.F., Nguyen H., Moore J.M., Roy J., Blumenstiel B., et al. The structure of haplotype blocks in the human genome. Science 2002, 296:2225-2229.
34. Gauderman W.J. Sample size requirements for association studies of gene-gene interaction. Am J Epidemiol 2002, 155:478-484.
35. Cornall R.J., Goodnow C.C. B cell antigen receptor signalling in the balance of tolerance and immunity. Novartis Found Symp 1998, 215:21-30. discussion: 30-40.
36. Wasserman R., Li Y.S., Hardy R.R. Differential expression of the blk and ret tyrosine kinases during B lineage development is dependent on Ig rearrangement. J Immunol 1995, 155:644-651.
37. Zwollo P., Rao S., Wallin J.J., Gackstetter E.R., Koshland M.E. The transcription factor NF-kappaB/p50 interacts with the blk gene during B cell activation. J Biol Chem 1998, 273:18647-18655.
38. Praprotnik S., Blank M., Meroni P.L., Rozman B., Eldor A., Shoenfeld Y. Classification of anti-endothelial cell antibodies into antibodies against microvascular and macrovascular endothelial cells: The pathogenic and diagnostic implications. Arthritis Rheum 2001, 44:1484-1494.
39. Yin H., Borghi M.O., Delgado-Vega A.M., Tincani A., Meroni P.L., Alarcon-Riquelme M.E. Association of STAT4 and BLK, but not BANK1 or IRF5, with primary antiphospholipid syndrome. Arthritis Rheum 2009, 60:2468-2471.