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Volumn 72, Issue 12, 2013, Pages 2032-2038

New insight on the Xq28 association with systemic sclerosis

(31)  David Carmona, F a   Carmen Cenit M a   Diaz Gallo, Lina Marcela a   Broen, Jasper C A b   Simeón, Carmen P c   Carreira, Patricia E d   Callejas Rubio, José Luis e   Fonollosa, Vicente c   López Longo, Francisco J f   González Gay, Miguel A g   Hunzelmann, Nicolas h   Riemekasten, Gabriela i   Witte, Torsten j   Kreuter, Alexander k   Distler, Jörg H W l   Madhok, Rajan m   Shiels, Paul m   Van Laar, Jacob M n   Schuerwegh, Annemie J o   Vonk, Madelon C p   more..


Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 1 RECEPTOR ASSOCIATED KINASE 1; METHYL CPG BINDING PROTEIN 2;

EID: 84887451383     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2012-202742     Document Type: Article
Times cited : (52)

References (44)
  • 1
    • 80054928002 scopus 로고    scopus 로고
    • Genomics and the multifactorial nature of human autoimmune disease
    • Cho JH, Gregersen PK. Genomics and the multifactorial nature of human autoimmune disease. N Engl J Med 2011;365:1612-23.
    • (2011) N Engl J Med , vol.365 , pp. 1612-1623
    • Cho, J.H.1    Gregersen, P.K.2
  • 2
    • 80052325959 scopus 로고    scopus 로고
    • Pervasive sharing of genetic effects in autoimmune disease
    • Cotsapas C, Voight BF, Rossin E, et al. Pervasive sharing of genetic effects in autoimmune disease. PLoS Genet 2011;7:e1002254.
    • (2011) PLoS Genet , vol.7
    • Cotsapas, C.1    Voight, B.F.2    Rossin, E.3
  • 3
    • 77950355043 scopus 로고    scopus 로고
    • Unraveling the genetics of autoimmunity
    • Zenewicz LA, Abraham C, Flavell RA, et al. Unraveling the genetics of autoimmunity. Cell 2010;140:791-7.
    • (2010) Cell , vol.140 , pp. 791-797
    • Zenewicz, L.A.1    Abraham, C.2    Flavell, R.A.3
  • 4
    • 57749193136 scopus 로고    scopus 로고
    • Detecting shared pathogenesis from the shared genetics of immune-related diseases
    • Zhernakova A, Van Diemen CC, Wijmenga C. Detecting shared pathogenesis from the shared genetics of immune-related diseases. Nat Rev Genet 2009;10:43-55.
    • (2009) Nat Rev Genet , vol.10 , pp. 43-55
    • Zhernakova, A.1    Van Diemen, C.C.2    Wijmenga, C.3
  • 5
    • 38649125210 scopus 로고    scopus 로고
    • Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci
    • Harley JB, Alarcon-Riquelme ME, Criswell LA, 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.
    • (2008) Nat Genet , vol.40 , pp. 204-210
    • Harley, J.B.1    Alarcon-Riquelme, M.E.2    Criswell, L.A.3
  • 6
    • 84862765265 scopus 로고    scopus 로고
    • Unraveling the genetic component of systemic sclerosis
    • Martin JE, Bossini-Castillo L, Martin J. Unraveling the genetic component of systemic sclerosis. Hum Genet 2012;131:1023-37.
    • (2012) Hum Genet , vol.131 , pp. 1023-1037
    • Martin, J.E.1    Bossini-Castillo, L.2    Martin, J.3
  • 7
    • 77954948753 scopus 로고    scopus 로고
    • The X chromosome in immune functions: When a chromosome makes the difference
    • Libert C, Dejager L, Pinheiro I. The X chromosome in immune functions: when a chromosome makes the difference. Nat Rev Immunol 2010;10:594-604.
    • (2010) Nat Rev Immunol , vol.10 , pp. 594-604
    • Libert, C.1    Dejager, L.2    Pinheiro, I.3
  • 8
    • 67349085696 scopus 로고    scopus 로고
    • Female predominance and X chromosome defects in autoimmune diseases
    • Invernizzi P, Pasini S, Selmi C, et al. Female predominance and X chromosome defects in autoimmune diseases. J Autoimmun 2009;33:12-16.
    • (2009) J Autoimmun , vol.33 , pp. 12-16
    • Invernizzi, P.1    Pasini, S.2    Selmi, C.3
  • 10
    • 82455198713 scopus 로고    scopus 로고
    • Evidence of the contribution of the X chromosome to systemic sclerosis susceptibility: Association with the functional IRAK1 196Phe/532Ser haplotype
    • Dieude P, Bouaziz M, Guedj M, et al. Evidence of the contribution of the X chromosome to systemic sclerosis susceptibility: association with the functional IRAK1 196Phe/532Ser haplotype. Arthritis Rheum 2011;63:3979-87.
    • (2011) Arthritis Rheum , vol.63 , pp. 3979-3987
    • Dieude, P.1    Bouaziz, M.2    Guedj, M.3
  • 11
    • 65549124475 scopus 로고    scopus 로고
    • Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus
    • 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.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 6256-6261
    • Jacob, C.O.1    Zhu, J.2    Armstrong, D.L.3
  • 12
    • 84862068459 scopus 로고    scopus 로고
    • Genetic variation in Toll-like receptors and disease susceptibility
    • Netea MG, Wijmenga C, O'Neill LA. Genetic variation in Toll-like receptors and disease susceptibility. Nat Immunol 2012;13:535-42.
    • (2012) Nat Immunol , vol.13 , pp. 535-542
    • Netea, M.G.1    Wijmenga, C.2    O'Neill, L.A.3
  • 13
    • 22544451204 scopus 로고    scopus 로고
    • A novel splice variant of interleukin-1 receptor (IL-1R)-associated kinase 1 plays a negative regulatory role in Toll/IL-1R-induced inflammatory signaling
    • Rao N, Nguyen S, Ngo K, et al. A novel splice variant of interleukin-1 receptor (IL-1R)-associated kinase 1 plays a negative regulatory role in Toll/IL-1R-induced inflammatory signaling. Mol Cell Biol 2005;25:6521-32.
    • (2005) Mol Cell Biol , vol.25 , pp. 6521-6532
    • Rao, N.1    Nguyen, S.2    Ngo, K.3
  • 14
    • 45849119873 scopus 로고    scopus 로고
    • Common variants within MECP2 confer risk of systemic lupus erythematosus
    • Sawalha AH, Webb R, Han S, et al. Common variants within MECP2 confer risk of systemic lupus erythematosus. PLoS One 2008;3:e1727.
    • (2008) PLoS One , vol.3
    • Sawalha, A.H.1    Webb, R.2    Han, S.3
  • 15
    • 65249109807 scopus 로고    scopus 로고
    • Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus
    • Webb R, Wren JD, Jeffries M, et al. Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus. Arthritis Rheum 2009;60:1076-84.
    • (2009) Arthritis Rheum , vol.60 , pp. 1076-1084
    • Webb, R.1    Wren, J.D.2    Jeffries, M.3
  • 16
    • 67649844335 scopus 로고    scopus 로고
    • Xq28 and lupus: IRAK1 or MECP2?
    • author reply E63
    • Sawalha AH. Xq28 and lupus: IRAK1 or MECP2? Proc Natl Acad Sci USA 2009;106:E62; author reply E63.
    • (2009) Proc Natl Acad Sci USA , vol.106
    • Sawalha, A.H.1
  • 17
    • 0023854176 scopus 로고
    • Scleroderma (systemic sclerosis): Classification, subsets and pathogenesis
    • Le Roy EC, Black C, Fleischmajer R, et al. Scleroderma (systemic sclerosis): classification, subsets and pathogenesis. J Rheumatol 1988;15:202-5.
    • (1988) J Rheumatol , vol.15 , pp. 202-205
    • Le Roy, E.C.1    Black, C.2    Fleischmajer, R.3
  • 18
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • Barrett JC, Fry B, Maller J, et al. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21:263-5.
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3
  • 19
    • 31744435871 scopus 로고    scopus 로고
    • Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies
    • Skol AD, Scott LJ, Abecasis GR, et al. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 2006;38:209-13.
    • (2006) Nat Genet , vol.38 , pp. 209-213
    • Skol, A.D.1    Scott, L.J.2    Abecasis, G.R.3
  • 20
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: A tool set for whole-genome association and population-based linkage analyses
    • Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-75.
    • (2007) Am J Hum Genet , vol.81 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3
  • 21
    • 0001677717 scopus 로고
    • Controlling the false discovery rate: A practical and powerful approach to multiple testing
    • Benjamini Y, Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Statist Soc B 1995;57:289-300.
    • (1995) J R Statist Soc B , vol.57 , pp. 289-300
    • Benjamini, Y.1    Hochberg, Y.2
  • 22
    • 77955145342 scopus 로고    scopus 로고
    • Genetic association between methyl-CpG binding protein 2 (MECP2) and primary Sjogren's syndrome
    • Cobb BL, Fei Y, Jonsson R, et al. Genetic association between methyl-CpG binding protein 2 (MECP2) and primary Sjogren's syndrome. Ann Rheum Dis 2010;69:1731-2.
    • (2010) Ann Rheum Dis , vol.69 , pp. 1731-1732
    • Cobb, B.L.1    Fei, Y.2    Jonsson, R.3
  • 24
    • 44849087740 scopus 로고    scopus 로고
    • Defective T-cell ERK signaling induces interferon-regulated gene expression and overexpression of methylation-sensitive genes similar to lupus patients
    • Sawalha AH, Jeffries M, Webb R, et al. Defective T-cell ERK signaling induces interferon-regulated gene expression and overexpression of methylation-sensitive genes similar to lupus patients. Genes Immun 2008;9:368-78.
    • (2008) Genes Immun , vol.9 , pp. 368-378
    • Sawalha, A.H.1    Jeffries, M.2    Webb, R.3
  • 25
    • 34250376378 scopus 로고    scopus 로고
    • Defective DNA methylation and CD70 overexpression in CD4+ T cells in MRL/lpr lupus-prone mice
    • Sawalha AH, Jeffries M. Defective DNA methylation and CD70 overexpression in CD4+ T cells in MRL/lpr lupus-prone mice. Eur J Immunol 2007;37:1407-13.
    • (2007) Eur J Immunol , vol.37 , pp. 1407-1413
    • Sawalha, A.H.1    Jeffries, M.2
  • 26
    • 58149215075 scopus 로고    scopus 로고
    • Epigenetic regulation and the pathogenesis of systemic lupus erythematosus
    • Pan Y, Sawalha AH. Epigenetic regulation and the pathogenesis of systemic lupus erythematosus. Transl Res 2009;153:4-10.
    • (2009) Transl Res , vol.153 , pp. 4-10
    • Pan, Y.1    Sawalha, A.H.2
  • 27
    • 56649107908 scopus 로고    scopus 로고
    • Mecp2-null mice provide new neuronal targets for Rett syndrome
    • Urdinguio RG, Lopez-Serra L, Lopez-Nieva P, et al. Mecp2-null mice provide new neuronal targets for Rett syndrome. PLoS One 2008;3:e3669.
    • (2008) PLoS One , vol.3
    • Urdinguio, R.G.1    Lopez-Serra, L.2    Lopez-Nieva, P.3
  • 28
    • 45849105557 scopus 로고    scopus 로고
    • MeCP2, a key contributor to neurological disease, activates and represses transcription
    • Chahrour M, Jung SY, Shaw C, et al. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science 2008;320:1224-9.
    • (2008) Science , vol.320 , pp. 1224-1229
    • Chahrour, M.1    Jung, S.Y.2    Shaw, C.3
  • 29
    • 77957958411 scopus 로고    scopus 로고
    • Disrupted microRNA expression caused by Mecp2 loss in a mouse model of Rett syndrome
    • Urdinguio RG, Fernandez AF, Lopez-Nieva P, et al. Disrupted microRNA expression caused by Mecp2 loss in a mouse model of Rett syndrome. Epigenetics 2010;5:656-63.
    • (2010) Epigenetics , vol.5 , pp. 656-663
    • Urdinguio, R.G.1    Fernandez, A.F.2    Lopez-Nieva, P.3
  • 30
    • 84873744778 scopus 로고    scopus 로고
    • Fine mapping of Xq28: Both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups
    • Kaufman KM, Zhao J, Kelly JA, et al. Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups. Ann Rheum Dis 2013;72:437-44.
    • (2013) Ann Rheum Dis , vol.72 , pp. 437-444
    • Kaufman, K.M.1    Zhao, J.2    Kelly, J.A.3
  • 31
    • 67249160760 scopus 로고    scopus 로고
    • Replication of recently identified systemic lupus erythematosus genetic associations: A case-control study
    • Suarez-Gestal M, Calaza M, Endreffy E, et al. Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study. Arthritis Res Ther 2009;11:R69.
    • (2009) Arthritis Res Ther , vol.11
    • Suarez-Gestal, M.1    Calaza, M.2    Endreffy, E.3
  • 32
    • 50549096136 scopus 로고    scopus 로고
    • Polyautoimmunity and familial autoimmunity in systemic sclerosis
    • Hudson M, Rojas-Villarraga A, Coral-Alvarado P, etal. Polyautoimmunity and familial autoimmunity in systemic sclerosis. J Autoimmun 2008;31:156-9.
    • (2008) J Autoimmun , vol.31 , pp. 156-159
    • Hudson, M.1    Rojas-Villarraga, A.2    Coral-Alvarado, P.3
  • 33
    • 77949768088 scopus 로고    scopus 로고
    • Associated autoimmune diseases in systemic sclerosis define a subset of patients with milder disease: Results from 2 large cohorts of european caucasian patients
    • Avouac J, Airo P, Dieude P, etal. Associated autoimmune diseases in systemic sclerosis define a subset of patients with milder disease: results from 2 large cohorts of European Caucasian patients. J Rheumatol 2010;37:608-14.
    • (2010) J Rheumatol , vol.37 , pp. 608-614
    • Avouac, J.1    Airo, P.2    Dieude, P.3
  • 34
    • 42549147098 scopus 로고    scopus 로고
    • Variant form of STAT4 is associated with primary Sjogren's syndrome
    • Korman BD, Alba MI, Le JM, et al. Variant form of STAT4 is associated with primary Sjogren's syndrome. Genes Immun 2008;9:267-70.
    • (2008) Genes Immun , vol.9 , pp. 267-270
    • Korman, B.D.1    Alba, M.I.2    Le, J.M.3
  • 35
    • 64849100795 scopus 로고    scopus 로고
    • Unraveling the pathophysiology of Sjogren syndrome-associated dry eye disease
    • Nguyen CQ, Peck AB. Unraveling the pathophysiology of Sjogren syndrome-associated dry eye disease. Ocul Surf 2009;7:11-27.
    • (2009) Ocul Surf , vol.7 , pp. 11-27
    • Nguyen, C.Q.1    Peck, A.B.2
  • 36
    • 75749099357 scopus 로고    scopus 로고
    • Systemic sclerosis and lupus: Points in an interferon-mediated continuum
    • Assassi S, Mayes MD, Arnett FC, et al. Systemic sclerosis and lupus: points in an interferon-mediated continuum. Arthritis Rheum 2010;62:589-98.
    • (2010) Arthritis Rheum , vol.62 , pp. 589-598
    • Assassi, S.1    Mayes, M.D.2    Arnett, F.C.3
  • 37
    • 0346731045 scopus 로고    scopus 로고
    • Forming facultative heterochromatin: Silencing of an X chromosome in mammalian females
    • Chow JC, Brown CJ. Forming facultative heterochromatin: silencing of an X chromosome in mammalian females. Cell Mol Life Sci 2003;60:2586-03.
    • (2003) Cell Mol Life Sci , vol.60 , pp. 2586-2503
    • Chow, J.C.1    Brown, C.J.2
  • 38
    • 0035093630 scopus 로고    scopus 로고
    • X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
    • Doffinger R, Smahi A, Bessia C, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 2001;27:277-85.
    • (2001) Nat Genet , vol.27 , pp. 277-285
    • Doffinger, R.1    Smahi, A.2    Bessia, C.3
  • 39
    • 0027403374 scopus 로고
    • Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans
    • Noguchi M, Yi H, Rosenblatt HM, etal. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 1993;73:147-57.
    • (1993) Cell , vol.73 , pp. 147-157
    • Noguchi, M.1    Yi, H.2    Rosenblatt, H.M.3
  • 40
    • 79955628617 scopus 로고    scopus 로고
    • Innate control of B cell responses
    • Cerutti A, Puga I, Cols M. Innate control of B cell responses. Trends Immunol 2011;32:202-11.
    • (2011) Trends Immunol , vol.32 , pp. 202-211
    • Cerutti, A.1    Puga, I.2    Cols, M.3
  • 41
    • 34247277666 scopus 로고    scopus 로고
    • Foxp3 in control of the regulatory T cell lineage
    • Zheng Y, Rudensky AY. Foxp3 in control of the regulatory T cell lineage. Nat Immunol 2007;8:457-62.
    • (2007) Nat Immunol , vol.8 , pp. 457-462
    • Zheng, Y.1    Rudensky, A.Y.2
  • 42
    • 0034457242 scopus 로고    scopus 로고
    • Increased expression of CD40 ligand in activated CD4+ T lymphocytes of systemic sclerosis patients
    • Valentini G, Romano MF, Naclerio C, et al. Increased expression of CD40 ligand in activated CD4+ T lymphocytes of systemic sclerosis patients. J Autoimmun 2000;15:61-6.
    • (2000) J Autoimmun , vol.15 , pp. 61-66
    • Valentini, G.1    Romano, M.F.2    Naclerio, C.3
  • 43
    • 84858074879 scopus 로고    scopus 로고
    • DNA demethylation of CD40L in CD4 (+) T-cells from women with systemic sclerosis-A possible explanation for female susceptibility
    • Lian X, Xiao R, Hu X, et al. DNA demethylation of CD40L in CD4 (+) T-cells from women with systemic sclerosis-A possible explanation for female susceptibility. Arthritis Rheum 2012;64:2338-45.
    • (2012) Arthritis Rheum , vol.64 , pp. 2338-2345
    • Lian, X.1    Xiao, R.2    Hu, X.3
  • 44
    • 80053576813 scopus 로고    scopus 로고
    • Association of a non-synonymous functional variant of the ITGAM gene with systemic sclerosis
    • Carmona FD, Simeon CP, Beretta L, et al. Association of a non-synonymous functional variant of the ITGAM gene with systemic sclerosis. Ann Rheum Dis 2011;70:2050-2.
    • (2011) Ann Rheum Dis , vol.70 , pp. 2050-2052
    • Carmona, F.D.1    Simeon, C.P.2    Beretta, L.3


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