Analysis of ancestral and functionally relevant CD variants in systemic lupus erythematosus patients

PLoS ONE

Volumn 9, Issue 11, 2014, Pages

  Cenit, Maria Carmen ^a   Martínez Florensa, Mario ^b,c   Consuegra, Marta ^c   Bonet, Lizette ^c   Carnero Montoro, Elena ^d   Armiger, Noelia ^c   Caballero Baños, Miguel ^e   Arias, Maria Teresa ^e   Benitez, Daniel ^c   Ortego Centeno, Norberto ^f   De Ramón, Enrique ^g   Sabio, José Mario ^h   García Hernández, Francisco J ⁱ   Tolosa, Carles ^j   Suárez, Ana ^k   González Gay, Miguel A ^l   Bosch, Elena ^d   Martín, Javier ^a   Lozano, Francisco ^c,e,m  

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

^b ImmunNovative Developments   (Spain)

^c INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^d CSIC   (Spain)

^e HOSPITAL CLÍNIC   (Spain)

^f HOSPITAL UNIVERSITARIO SAN CECILIO   (Spain)

^g HOSPITAL REGIONAL UNIVERSITARIO DE MÁLAGA   (Spain)

^h HOSPITAL UNIVERSITARIO VIRGEN DE LAS NIEVES   (Spain)

ⁱ HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^j HOSPITAL DE SABADELL   (Spain)

^k UNIVERSITY OF OVIEDO   (Spain)

^l HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^m UNIVERSITY OF BARCELONA   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CD5 ANTIGEN; LEUCINE; PROLINE; T LYMPHOCYTE RECEPTOR; VALINE;

ARTICLE; BIOASSAY; CD3+ T LYMPHOCYTE; CD5 GENE; CONTROLLED STUDY; CYTOKINE RELEASE; GENE FUNCTION; GENE TARGETING; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HAPLOTYPE; HOMOZYGOTE; HUMAN; IN VITRO STUDY; LUPUS ERYTHEMATOSUS NEPHRITIS; LYMPHOCYTE PROLIFERATION; MAJOR CLINICAL STUDY; PERIPHERAL BLOOD MONONUCLEAR CELL; PROTEIN CROSS LINKING; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS; SYSTEMIC LUPUS ERYTHEMATOSUS NEPHRITIS; T LYMPHOCYTE ACTIVATION; TH2 CELL; ALLELE; AUTOIMMUNITY; CASE CONTROL STUDY; COMPARATIVE STUDY; COMPLICATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; IMMUNOLOGY; LUPUS NEPHRITIS; LYMPHOCYTE ACTIVATION; T LYMPHOCYTE;

ALLELES; ANTIGENS, CD5; AUTOIMMUNITY; CASE-CONTROL STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; LUPUS NEPHRITIS; LYMPHOCYTE ACTIVATION; POLYMORPHISM, GENETIC; T-LYMPHOCYTES;

EID: 84913553238     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0113090     Document Type: Article

References (48)

1. Tsokos GC (2011) Systemic lupus erythematosus. N Engl J Med 365: 2110- 2121.
2. Guerra SG, Vyse TJ, Cunninghame Graham DS (2012) The genetics of lupus: A functional perspective. Arthritis Res Ther 14: 211.
3. Morris DL, Vyse TJ (2012) Analysis of systemic lupus erythematosus subphenotype data for genetic association. Curr Opin Rheumatol 24: 482-488.
4. Harley IT, Kaufman KM, Langefeld CD, Harley JB, Kelly JA (2009) Genetic susceptibility to SLE: new insights from fine mapping and genome-wide association studies. Nat Rev Genet 10: 285-290.
5. Taylor KE, Chung SA, Graham RR, Ortmann WA, Lee AT, et al. (2011) Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes. PLoS Genet 7: e1001311.
6. Sanchez E, Nadig A, Richardson BC, Freedman BI, Kaufman KM, et al. (2011) Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus. Ann Rheum Dis 70:1752-7.
7. Crispin JC, Liossis SN, Kis-Toth K, Lieberman LA, Kyttaris VC, et al. (2010) Pathogenesis of human systemic lupus erythematosus: recent advances. Trends Mol Med 16: 47-57.
8. Mackenzie LE, Youinou PY, Hicks R, Yuksel B, Mageed RA, et al. (1991) Autoand polyreactivity of IgM from CD5+ and CD52 cord blood B cells. Scand J Immunol 33: 329-335.
9. Plater-Zyberk C, Maini RN, Lam K, Kennedy TD, Janossy G (1985) A rheumatoid arthritis B cell subset expresses a phenotype similar to that in chronic lymphocytic leukemia. Arthritis Rheum 28: 971-976.
10. Smith HR, Olson RR (1990) CD5+ B lymphocytes in systemic lupus erythematosus and rheumatoid arthritis. J Rheumatol 17: 833-835.
11. Dauphinee M, Tovar Z, Talal N (1988) B cells expressing CD5 are increased in Sjogren's syndrome. Arthritis Rheum 31: 642-647.
12. Iwatani Y, Amino N, Kaneda T, Ichihara K, Tamaki H, et al. (1989) Marked increase of CD5 + B cells in hyperthyroid Graves' disease. Clin Exp Immunol 78: 196-200.
13. Munoz A, Gallart T, Vinas O, Gomis R (1991) Increased CD5-positive B lymphocytes in type I diabetes. Clin Exp Immunol 83: 304-308.
14. Tarakhovsky A, Kanner SB, Hombach J, Ledbetter JA, Muller W, et al. (1995) A role for CD5 in TCR-mediated signal transduction and thymocyte selection. Science 269: 535-537.
15. Bikah G, Carey J, Ciallella JR, Tarakhovsky A, Bondada S (1996) CD5- mediated negative regulation of antigen receptor-induced growth signals in B-1 B cells. Science 274: 1906-1909.
16. Azzam HS, Grinberg A, Lui K, Shen H, Shores EW, et al. (1998) CD5 expression is developmentally regulated by T cell receptor (TCR) signals and TCR avidity. J Exp Med 188: 2301-2311.
17. Azzam HS, DeJarnette JB, Huang K, Emmons R, Park CS, et al. (2001) Fine tuning of TCR signaling by CD5. J Immunol 166: 5464-5472.
18. Axtell RC, Webb MS, Barnum SR, Raman C (2004) Cutting edge: critical role for CD5 in experimental autoimmune encephalomyelitis: inhibition of engagement reverses disease in mice. J Immunol 173: 2928-2932.
19. Friedlein G, El-Hage F, Vergnon I, Richon C, Saulnier P, et al. (2007) Human CD5 protects circulating tumor antigen-specific CTL from tumor-mediated activation-induced cell death. J Immunol 178: 6821-6827.
20. Vera J, Fenutria R, Canadas O, Figueras M, Mota R, et al. (2009) The CD5 ectodomain interacts with conserved fungal cell wall components and protects from zymosan-induced septic shock-like syndrome. Proc Natl Acad Sci USA 106: 1506-1511.
21. Lankester AC, van Schijndel GM, Cordell JL, van Noesel CJ, van Lier RA (1994) CD5 is associated with the human B cell antigen receptor complex. Eur J Immunol 24: 812-816.
22. Beyers AD, Spruyt LL, Williams AF (1992) Molecular associations between the T-lymphocyte antigen receptor complex and the surface antigens CD2, CD4, or CD8 and CD5. Proc Natl Acad Sci USA 89: 2945-2949.
23. Brossard C, Semichon M, Trautmann A, Bismuth G (2003) CD5 inhibits signaling at the immunological synapse without impairing its formation. J Immunol 170: 4623-4629.
24. Perez-Villar JJ, Whitney GS, Bowen MA, Hewgill DH, Aruffo AA, et al. (1999) CD5 negatively regulates the T-cell antigen receptor signal transduction pathway: involvement of SH2-containing phosphotyrosine phosphatase SHP- 1. Mol Cell Biol 19: 2903-2912.
25. Dennehy KM, Broszeit R, Ferris WF, Beyers AD (1998) Thymocyte activation induces the association of the proto-oncoprotein c-cbl and ras GTPase-activating protein with CD5. Eur J Immunol 28: 1617-1625.
26. Demydenko D (2010) c-Cbl mediated ubiquitylation and regulation of cell surface exposure of CD5. Biochem Biophys Res Commun 392: 500-504.
27. Roa NS, Ordonez-Rueda D, Chavez-Rios JR, Raman C, Garcia-Zepeda EA, et al. (2013) The carboxy-terminal region of CD5 is required for c-CBL mediated TCR signaling downmodulation in thymocytes. Biochem Biophys Res Commun 432: 52-59.
28. Sestero CM, McGuire DJ, De Sarno P, Brantley EC, Soldevila G, et al. (2012) CD5-dependent CK2 activation pathway regulates threshold for T cell anergy. J Immunol 189: 2918-2930.
29. Lozano F, Simarro M, Calvo J, Vila JM, Padilla O, et al. (2000) CD5 signal transduction: positive or negative modulation of antigen receptor signaling. Crit Rev Immunol 20: 347-358.
30. Soldevila G, Raman C, Lozano F (2011) The immunomodulatory properties of the CD5 lymphocyte receptor in health and disease. Curr Op Immunol 23: 1-9.
31. Fehervari Z, Sakaguchi S (2004) A paragon of self-tolerance: CD25+CD4+ regulatory T cells and the control of immune responses. Arthritis Res Ther 6: 19-25.
32. Yanaba K, Bouaziz JD, Haas KM, Poe JC, Fujimoto M, et al. (2008) A regulatory B cell subset with a unique CD1dhiCD5+ phenotype controls T celldependent inflammatory responses. Immunity 28: 639-650.
33. Hippen KL, Tze LE, Behrens TW (2000) CD5 maintains tolerance in anergic B cells. J Exp Med 191: 883-890.
34. Stamou P, de Jersey J, Carmignac D, Mamalaki C, Kioussis D, et al. (2003) Chronic exposure to low levels of antigen in the periphery causes reversible functional impairment correlating with changes in CD5 levels in monoclonal CD8 T cells. J Immunol 171: 1278-1284.
35. Carnero-Montoro E, Bonet L, Engelken J, Bielig T, Martinez-Florensa M, et al. (2012) Evolutionary and functional evidence for positive selection at the human CD5 immune receptor gene. Mol Biol Evol 29: 811-823.
36. Hochberg MC (1997) Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 40: 1725.
37. Sanchez E, Abelson AK, Sabio JM, Gonzalez-Gay MA, Ortego-Centeno N, et al. (2007) Association of a CD24 gene polymorphism with susceptibility to systemic lupus erythematosus. Arthritis Rheum 56:3080-6.
38. Bhandoola A, Bosselut R, Yu Q, Cowan ML, Feigenbaum L, et al. (2002) CD5- mediated inhibition of TCR signaling during intrathymic selection and development does not require the CD5 extracellular domain. Eur J Immunol 32: 1811-1817.
39. Miyake K, Akahoshi M, Nakashima H (2011) The subset balance in Lupus Nephritis. J Biomed Biotechnol 2011: 980286.
40. Sanchez E, Rasmussen A, Riba L, Acevedo-Vasquez E, Kelly JA, et al. (2012) Impact of genetic ancestry and sociodemographic status on the clinical expression of systemic lupus erythematosus in American Indian-European populations. Arthritis Rheum 64: 3687-3694.
41. Lau CS, Yin G, Mok MY (2006) Ethnic and geographical differences in systemic lupus erythematosus: An overview. Lupus 15: 715-719.
42. Ward MM (2004) Education level and mortality in systemic lupus erythematosus (SLE): evidence of underascertainment of deaths due to SLE in ethnic minorities with low education levels. Arthritis Rheum 51: 616-624.
43. Borchers AT, Leibushor N, Naguwa SM, Cheema GS, Shoenfeld Y, et al. (2012) Lupus nephritis: A critical review. Autoimmun Rev 12: 174-194.
44. Ramos PS, Brown EE, Kimberly RP, Langefeld CD (2010) Genetic factors predisposing to systemic lupus erythematosus and lupus nephritis. Semin Nephrol 30: 164-176.
45. Eyre S, Bowes J, Diogo D, Lee A, Barton A, et al. (2012) High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nat Genet 44: 1336-1340.
46. Zhernakova A, van Diemen CC, Wijmenga C (2009) Detecting shared pathogenesis from the shared genetics of immune-related diseases. Nat Rev Genet 10: 43-55.
47. Cho JH, Gregersen PK (2011) Genomics and the multifactorial nature of human autoimmune disease. N Engl J Med 365: 1612-1623.
48. Brito-Zeron P, Armiger N, Soto-Cardenas M, Gandia M, Bove A, et al. (2013) Influence of the CD5 genetic variability in the clinical expression of Primary Sjogren's Syndrome. Rev Clin Esp 213 (Supl): 62.