Association of TLR7 copy number variation with susceptibility to childhood-onset systemic lupus erythematosus in Mexican population

Annals of the Rheumatic Diseases

Volumn 69, Issue 10, 2010, Pages 1861-1865

  García Ortiz, Humberto ^a   Velázquez Cruz, Rafael ^a   Espinosa Rosales, Francisco ^b   Jiménez Morales, Silvia ^a   Baca, Vicente ^c   Orozco, Lorena ^a  

^a INSTITUTO NACIONAL DE MEDICINA GENÓMICA   (Mexico)

^b INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

^c HOSPITAL DE PEDIATRÍA   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERFERON; MESSENGER RNA; TOLL LIKE RECEPTOR 7; TLR7 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HUMAN; INFANT; LUPUS ERYTHEMATOSUS NEPHRITIS; MAJOR CLINICAL STUDY; MALE; MEXICO; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SYSTEMIC LUPUS ERYTHEMATOSUS; BIOSYNTHESIS; CASE CONTROL STUDY; GENE DOSAGE; GENETIC PREDISPOSITION; GENETICS; METABOLISM; SEX DIFFERENCE;

ADOLESCENT; CASE-CONTROL STUDIES; CHILD; FEMALE; GENE DOSAGE; GENE EXPRESSION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; RNA, MESSENGER; SEX FACTORS; TOLL-LIKE RECEPTOR 7;

EID: 77957282676     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/ard.2009.124313     Document Type: Article

References (35)

1. Wakeland EK, Liu K, Graham RR, et al. Delineating the genetic basis of systemic lupus erythematosus. Immunity 2001;15:397-408. (Pubitemid 32907387)
2. Andrews BS, Eisenberg RA, Theofilopoulos AN, et al. Spontaneous murine lupus-like syndromes. Clinical and immunopathological manifestations in several strains. J Exp Med 1978;148:1198-215.
3. Murphy ED, Roths JB. A Y chromosome associated factor in strain BXSB producing accelerated autoimmunity and lymphoproliferation. Arthritis Rheum 1979;22:1188-94.
4. Hudgins CC, Steinberg RT, Klinman DM, et al. Studies of consomic mice bearing the Y chromosome of the BXSB mouse. J Immunol 1985;134:3849-54.
5. Izui S, Higaki M, Morrow D, et al. The Y chromosome from autoimmune BXSB/MpJ mice induces a lupus-like syndrome in (NZW x C57BL/6)F1 male mice, but not in C57BL/6 male mice. Eur J Immunol 1988;18:911-15.
6. Morel L, Croker BP, Blenman KR, et al. Genetic reconstitution of systemic lupus erythematosus immunopathology with polycongenic murine strains. Proc Natl Acad Sci USA 2000;97:6670-5. (Pubitemid 30412772)
7. Kikuchi S, Fossati-Jimack L, Moll T, et al. Differential role of three major New Zealand Black-derived loci linked with Yaa-induced murine lupus nephritis. J Immunol 2005;174:1111-17.
8. Subramanian S, Tus K, Li QZ, et al. A Tlr7 translocation accelerates systemic autoimmunity in murine lupus. Proc Natl Acad Sci USA 2006;103:9970-5.
9. Pisitkun P, Deane JA, Difilippantonio MJ, et al. Autoreactive B cell responses to RNA-related antigens due to TLR7 gene duplication. Science 2006;312:1669-72.
10. Fairhurst AM, Hwang SH, Wang A, et al. Yaa autoimmune phenotypes are conferred by overexpression of TLR7. Eur J Immunol 2008;38:1971-8.
11. Santiago-Raber ML, Kikuchi S, Borel P, et al. Evidence for genes in addition to Tlr7 in the Yaa translocation linked with acceleration of systemic lupus erythematosus. J Immunol 2008;181:1556-62.
12. Deane JA, Pisitkun P, Barrett RS, et al. Control of toll-like receptor 7 expression is essential to restrict autoimmunity and dendritic cell proliferation. Immunity 2007;27:801-10. (Pubitemid 350102256)
13. Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature 2006;444:444-54.
14. Stranger BE, Forrest MS, Dunning M, et al. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 2007;315:848-53.
15. Lupski JR, Stankiewicz P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 2005;1:e49.
16. Sharp AJ. Emerging themes and new challenges in defining the role of structural variation in human disease. Hum Mutat 2009;30:135-44.
17. Fellermann K, Stange DE, Schaeffeler E, et al. A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am J Hum Genet 2006;79:439-48.
18. Linzmeier RM, Ganz T. Human defensin gene copy number polymorphisms: comprehensive analysis of independent variation in alpha- and beta-defensin regions at 8p22-p23. Genomics 2005;86:423-30.
19. Aitman TJ, Dong R, Vyse TJ, et al. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 2006;439:851-5.
20. Fanciulli M, Norsworthy PJ, Petretto E, et al. FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat Genet 2007;39:721-3.
21. Tan EM, Cohen AS, Fries JF, et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982;25:1271-7.
22. Giulietti A, Overbergh L, Valckx D, et al. An overview of real-time quantitative PCR: applications to quantify cytokine gene expression. Methods 2001;25:386-401.
23. Komatsuda A, Wakui H, Iwamoto K, et al. Up-regulated expression of toll-like receptors mRNAs in peripheral blood mononuclear cells from patients with systemic lupus erythematosus. Clin Exp Immunol 2008;152:482-7.
24. Takeda K, Akira S. Toll-like receptors in innate immunity. Int Immunol 2005;17:1-14.
25. Leadbetter EA, Rifkin IR, Hohlbaum AM, et al. Chromatin-IgG complexes activate B cells by dual engagement of IgM and toll-like receptors. Nature 2002;416:603-7.
26. Lau CM, Broughton C, Tabor AS, et al. RNA-associated autoantigens activate B cells by combined B cell antigen receptor/toll-like eceptor 7 engagement. J Exp Med 2005;202:1171-7.
27. Barrat FJ, Meeker T, Gregorio J, et al. Nucleic acids of mammalian origin can act as endogenous ligands for toll-like receptors and may promote systemic lupus erythematosus. J Exp Med 2005;202:1131-9.
28. Lund JM, Alexopoulou L, Sato A, et al. Recognition of single-stranded RNA viruses by toll-like receptor 7. Proc Natl Acad Sci USA 2004;101:5598-603.
29. Vollmer J, Tluk S, Schmitz C, et al. Immune stimulation mediated by autoantigen binding sites within small nuclear RNAs involves toll-like receptors 7 and 8. J Exp Med 2005;202:1575-85.
30. Savarese E, Chae OW, Trowitzsch S, et al. U1 small nuclear ribonucleoprotein immune complexes induce type I interferon in plasmacytoid dendritic cells through TLR7. Blood 2006;107:3229-34.
31. Scofield RH, Bruner GR, Namjou B, et al. Klinefelter's syndrome (47, XXY) in male systemic lupus erythematosus patients: support for the notion of a gene-dose effect from the X chromosome. Arthritis Rheum 2008;58:2511-17.
32. Jacob CO, Zhu J, Armstrong DL, et al. Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus. Proc Natl Acad Sci USA 2009;106:6256-61.
33. Kelley J, Johnson MR, Alarcón GS, et al. Variation in the relative copy number of the TLR7 gene in patients with systemic lupus erythematosus and healthy control subjects. Arthritis Rheum 2007;56:3375-8. (Pubitemid 47585432)
34. Sigurdsson S, Nordmark G, Göring HH, et al. Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet 2005;76:528-37.
35. Reddy PL, Velázquez-Cruz R, Baca V, et al. Genetic association of IRF5 with SLE in Mexicans: higher frequency of the risk haplotype and its homozygozity than Europeans. Hum Genet 2008;121:721-7.