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Volumn 27, Issue 6, 2015, Pages 521-529

Genetics of systemic sclerosis: Recent advances

Author keywords

Functional variation; Genetic association; Population genetics

Indexed keywords

ANTINUCLEAR ANTIBODY;

EID: 84942511978     PISSN: 10408711     EISSN: 15316963     Source Type: Journal    
DOI: 10.1097/BOR.0000000000000214     Document Type: Review
Times cited : (27)

References (89)
  • 1
    • 33847348491 scopus 로고    scopus 로고
    • Systemic sclerosis: A prototypic multisystem fibrotic disorder
    • Varga J, Abraham D. Systemic sclerosis: a prototypic multisystem fibrotic disorder. J Clin Invest 2007; 117:557-567.
    • (2007) J Clin Invest , vol.117 , pp. 557-567
    • Varga, J.1    Abraham, D.2
  • 2
    • 40149100153 scopus 로고    scopus 로고
    • The many faces of scleroderma
    • v
    • Steen VD. The many faces of scleroderma. Rheum Dis Clin North Am 2008; 34:1-15; v.
    • (2008) Rheum Dis Clin North Am , vol.34 , pp. 1-15
    • Steen, V.D.1
  • 3
    • 0023854176 scopus 로고
    • Scleroderma (systemic sclerosis): Classification, subsets and pathogenesis
    • LeRoy EC, Black C, Fleischmajer R, et al. Scleroderma (systemic sclerosis): classification, subsets and pathogenesis. J Rheumatol 1988; 15:202-205.
    • (1988) J Rheumatol , vol.15 , pp. 202-205
    • LeRoy, E.C.1    Black, C.2    Fleischmajer, R.3
  • 4
    • 84856929470 scopus 로고    scopus 로고
    • Epidemiology of systemic sclerosis: Incidence, prevalence, survival, risk factors, malignancy, and environmental triggers
    • Barnes J, Mayes MD. Epidemiology of systemic sclerosis: incidence, prevalence, survival, risk factors, malignancy, and environmental triggers. Curr Opin Rheumatol 2012; 24:165-170.
    • (2012) Curr Opin Rheumatol , vol.24 , pp. 165-170
    • Barnes, J.1    Mayes, M.D.2
  • 5
    • 84863857123 scopus 로고    scopus 로고
    • Update on the profile of the EUSTAR cohort: An analysis of the EULAR Scleroderma Trials and Research group database
    • Meier FM, Frommer KW, Dinser R, et al. Update on the profile of the EUSTAR cohort: an analysis of the EULAR Scleroderma Trials and Research group database. Ann Rheum Dis 2012; 71:1355-1360.
    • (2012) Ann Rheum Dis , vol.71 , pp. 1355-1360
    • Meier, F.M.1    Frommer, K.W.2    Dinser, R.3
  • 6
    • 0036124419 scopus 로고    scopus 로고
    • Systemic sclerosis: Demographic, clinical, and serologic features and survival in 1012 Italian patients
    • Ferri C, Valentini G, Cozzi F, et al. Systemic sclerosis: demographic, clinical, and serologic features and survival in 1012 Italian patients. Medicine (Baltimore) 2002; 81:139-153.
    • (2002) Medicine (Baltimore) , vol.81 , pp. 139-153
    • Ferri, C.1    Valentini, G.2    Cozzi, F.3
  • 7
    • 0036118293 scopus 로고    scopus 로고
    • Predicting mortality in systemic sclerosis: Analysis of a cohort of 309 French Canadian patients with emphasis on features at diagnosis as predictive factors for survival
    • Scussel-Lonzetti L, Joyal F, Raynauld JP, et al. Predicting mortality in systemic sclerosis: analysis of a cohort of 309 French Canadian patients with emphasis on features at diagnosis as predictive factors for survival. Medicine (Baltimore) 2002; 81:154-167.
    • (2002) Medicine (Baltimore) , vol.81 , pp. 154-167
    • Scussel-Lonzetti, L.1    Joyal, F.2    Raynauld, J.P.3
  • 8
    • 0030905217 scopus 로고    scopus 로고
    • Racial differences in scleroderma among women in Michigan
    • Laing TJ, Gillespie BW, Toth MB, et al. Racial differences in scleroderma among women in Michigan. Arthritis Rheum 1997; 40:734-742.
    • (1997) Arthritis Rheum , vol.40 , pp. 734-742
    • Laing, T.J.1    Gillespie, B.W.2    Toth, M.B.3
  • 9
    • 0043074631 scopus 로고    scopus 로고
    • Prevalence, incidence, survival, and disease characteristics of systemic sclerosis in a large US population
    • Mayes MD, Lacey JV Jr, Beebe-Dimmer J, et al. Prevalence, incidence, survival, and disease characteristics of systemic sclerosis in a large US population. Arthritis Rheum 2003; 48:2246-2255.
    • (2003) Arthritis Rheum , vol.48 , pp. 2246-2255
    • Mayes, M.D.1    Lacey, J.V.2    Beebe-Dimmer, J.3
  • 10
    • 0031691662 scopus 로고    scopus 로고
    • African-American race and antibodies to topoisomerase I are associated with increased severity of scleroderma lung disease
    • Greidinger EL, Flaherty KT, White B, et al. African-American race and antibodies to topoisomerase I are associated with increased severity of scleroderma lung disease. Chest 1998; 114:801-807.
    • (1998) Chest , vol.114 , pp. 801-807
    • Greidinger, E.L.1    Flaherty, K.T.2    White, B.3
  • 11
    • 27744480810 scopus 로고    scopus 로고
    • Systemic sclerosis mortality in the United States: 1979-1998
    • Krishnan E, Furst DE. Systemic sclerosis mortality in the United States: 1979-1998. Eur J Epidemiol 2005; 20:855-861.
    • (2005) Eur J Epidemiol , vol.20 , pp. 855-861
    • Krishnan, E.1    Furst, D.E.2
  • 12
    • 34547464724 scopus 로고    scopus 로고
    • Pulmonary involvement in systemic sclerosis: Associations with genetic, serologic, sociodemographic, and behavioral factors
    • McNearney TA, Reveille JD, Fischbach M, et al. Pulmonary involvement in systemic sclerosis: associations with genetic, serologic, sociodemographic, and behavioral factors. Arthritis Rheum 2007; 57:318-326.
    • (2007) Arthritis Rheum , vol.57 , pp. 318-326
    • McNearney, T.A.1    Reveille, J.D.2    Fischbach, M.3
  • 13
    • 32144452902 scopus 로고    scopus 로고
    • Racial variation in clinical and immunological manifestations of systemic sclerosis
    • Nietert PJ, Mitchell HC, Bolster MB, et al. Racial variation in clinical and immunological manifestations of systemic sclerosis. J Rheumatol 2006; 33:263-268.
    • (2006) J Rheumatol , vol.33 , pp. 263-268
    • Nietert, P.J.1    Mitchell, H.C.2    Bolster, M.B.3
  • 14
    • 34347266509 scopus 로고    scopus 로고
    • Changes in causes of death in systemic sclerosis, 1972-2002
    • Steen VD, Medsger TA. Changes in causes of death in systemic sclerosis, 1972-2002. Ann Rheum Dis 2007; 66:940-944.
    • (2007) Ann Rheum Dis , vol.66 , pp. 940-944
    • Steen, V.D.1    Medsger, T.A.2
  • 15
    • 84865822182 scopus 로고    scopus 로고
    • Systematic localization of common disease-associated variation in regulatory DNA
    • Maurano MT, Humbert R, Rynes E, et al. Systematic localization of common disease-associated variation in regulatory DNA. Science 2012; 337:1190-1195.
    • (2012) Science , vol.337 , pp. 1190-1195
    • Maurano, M.T.1    Humbert, R.2    Rynes, E.3
  • 16
    • 50549096136 scopus 로고    scopus 로고
    • Polyautoimmunity and familial autoimmunity in systemic sclerosis
    • Hudson M, Rojas-Villarraga A, Coral-Alvarado P, et al. Polyautoimmunity and familial autoimmunity in systemic sclerosis. J Autoimmun 2008; 31:156-159.
    • (2008) J Autoimmun , vol.31 , pp. 156-159
    • Hudson, M.1    Rojas-Villarraga, A.2    Coral-Alvarado, P.3
  • 18
    • 77953289232 scopus 로고    scopus 로고
    • Autoimmune diseases and autoantibodies in the first degree relatives of patients with systemic sclerosis
    • Arora-Singh RK, Assassi S, del Junco DJ, et al. Autoimmune diseases and autoantibodies in the first degree relatives of patients with systemic sclerosis. J Autoimmun 2010; 35:52-57.
    • (2010) J Autoimmun , vol.35 , pp. 52-57
    • Arora-Singh, R.K.1    Assassi, S.2    Del Junco, D.J.3
  • 19
    • 0034965980 scopus 로고    scopus 로고
    • Familial occurrence frequencies and relative risks for systemic sclerosis (scleroderma) in three United States cohorts
    • Arnett FC, Cho M, Chatterjee S, et al. Familial occurrence frequencies and relative risks for systemic sclerosis (scleroderma) in three United States cohorts. Arthritis Rheum 2001; 44:1359-1362.
    • (2001) Arthritis Rheum , vol.44 , pp. 1359-1362
    • Arnett, F.C.1    Cho, M.2    Chatterjee, S.3
  • 20
    • 0038004795 scopus 로고    scopus 로고
    • Analysis of systemic sclerosis in twins reveals low concordance for disease and high concordance for the presence of antinuclear antibodies
    • Feghali-Bostwick C, Medsger TA Jr, Wright TM. Analysis of systemic sclerosis in twins reveals low concordance for disease and high concordance for the presence of antinuclear antibodies. Arthritis Rheum 2003; 48:1956-1963.
    • (2003) Arthritis Rheum , vol.48 , pp. 1956-1963
    • Feghali-Bostwick, C.1    Medsger, T.A.2    Wright, T.M.3
  • 21
    • 77954239390 scopus 로고    scopus 로고
    • Heritability of vasculopathy, autoimmune disease, and fibrosis in systemic sclerosis: A population-based study
    • Frech T, Khanna D, Markewitz B, et al. Heritability of vasculopathy, autoimmune disease, and fibrosis in systemic sclerosis: a population-based study. Arthritis Rheum 2010; 62:2109-2116.
    • (2010) Arthritis Rheum , vol.62 , pp. 2109-2116
    • Frech, T.1    Khanna, D.2    Markewitz, B.3
  • 22
    • 79960934301 scopus 로고    scopus 로고
    • Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis
    • Allanore Y, Saad M, Dieude P, et al. Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. PLoS Genet 2011; 7:e1002091.
    • (2011) PLoS Genet , vol.7 , pp. e1002091
    • Allanore, Y.1    Saad, M.2    Dieude, P.3
  • 23
    • 79960943814 scopus 로고    scopus 로고
    • Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genomewide association strategy
    • Gorlova O, Martin JE, Rueda B, et al. Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genomewide association strategy. PLoS Genet 2011; 7:e1002178.
    • (2011) PLoS Genet , vol.7 , pp. e1002178
    • Gorlova, O.1    Martin, J.E.2    Rueda, B.3
  • 24
    • 84888993757 scopus 로고    scopus 로고
    • A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci
    • Martin JE, Assassi S, Diaz-Gallo LM, et al. A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. Hum Mol Genet 2013; 22:4021-4029.
    • (2013) Hum Mol Genet , vol.22 , pp. 4021-4029
    • Martin, J.E.1    Assassi, S.2    Diaz-Gallo, L.M.3
  • 25
    • 77951765348 scopus 로고    scopus 로고
    • Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus
    • Radstake TR, Gorlova O, Rueda B, et al. Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nat Genet 2010; 42:426-429.
    • (2010) Nat Genet , vol.42 , pp. 426-429
    • Radstake, T.R.1    Gorlova, O.2    Rueda, B.3
  • 26
    • 84891817885 scopus 로고    scopus 로고
    • Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis
    • Mayes MD, Bossini-Castillo L, Gorlova O, et al. Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis. Am J Hum Genet 2014;94:47-61.
    • (2014) Am J Hum Genet , vol.94 , pp. 47-61
    • Mayes, M.D.1    Bossini-Castillo, L.2    Gorlova, O.3
  • 27
    • 84988843948 scopus 로고    scopus 로고
    • An immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3
    • Zochling J, Newell F, Charlesworth JC, et al. An Immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3. Arthritis Res Ther 2014; 16:438.
    • (2014) Arthritis Res Ther , vol.16 , pp. 438
    • Zochling, J.1    Newell, F.2    Charlesworth, J.C.3
  • 28
    • 84863043315 scopus 로고    scopus 로고
    • A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations
    • Bossini-Castillo L, Martin JE, Broen J, et al. A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations. Hum Mol Genet 2012; 21:926-933.
    • (2012) Hum Mol Genet , vol.21 , pp. 926-933
    • Bossini-Castillo, L.1    Martin, J.E.2    Broen, J.3
  • 29
    • 84861727232 scopus 로고    scopus 로고
    • Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study followup
    • Martin JE, Broen JC, Carmona FD, et al. Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study followup. Hum Mol Genet 2012; 21:2825-2835.
    • (2012) Hum Mol Genet , vol.21 , pp. 2825-2835
    • Martin, J.E.1    Broen, J.C.2    Carmona, F.D.3
  • 30
    • 84874399330 scopus 로고    scopus 로고
    • Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study
    • Bossini-Castillo L, Martin JE, Broen J, et al. Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study. Ann Rheum Dis 2013; 72:602-607.
    • (2013) Ann Rheum Dis , vol.72 , pp. 602-607
    • Bossini-Castillo, L.1    Martin, J.E.2    Broen, J.3
  • 31
    • 84912051014 scopus 로고    scopus 로고
    • Identification of IL12RB1 as a novel systemic sclerosis susceptibility locus
    • Lopez-Isac E, Bossini-Castillo L, Guerra SG, et al. Identification of IL12RB1 as a novel systemic sclerosis susceptibility locus. Arthritis Rheumatol 2014; 66:3521-3523.
    • (2014) Arthritis Rheumatol , vol.66 , pp. 3521-3523
    • Lopez-Isac, E.1    Bossini-Castillo, L.2    Guerra, S.G.3
  • 32
    • 84892166010 scopus 로고    scopus 로고
    • A genome-wide association study follow-up suggests a possible role for PPARG in systemic sclerosis susceptibility
    • Lopez-Isac E, Bossini-Castillo L, Simeon CP, et al. A genome-wide association study follow-up suggests a possible role for PPARG in systemic sclerosis susceptibility. Arthritis Res Ther 2014; 16:R6.
    • (2014) Arthritis Res Ther , vol.16 , pp. R6
    • Lopez-Isac, E.1    Bossini-Castillo, L.2    Simeon, C.P.3
  • 33
    • 72449184824 scopus 로고    scopus 로고
    • Association of interleukin 23 receptor polymorphisms with antitopoisomerase-I positivity and pulmonary hypertension in systemic sclerosis
    • Agarwal SK, Gourh P, Shete S, et al. Association of interleukin 23 receptor polymorphisms with antitopoisomerase-I positivity and pulmonary hypertension in systemic sclerosis. J Rheumatol 2009; 36:2715-2723.
    • (2009) J Rheumatol , vol.36 , pp. 2715-2723
    • Agarwal, S.K.1    Gourh, P.2    Shete, S.3
  • 34
    • 58849088955 scopus 로고    scopus 로고
    • The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype
    • Rueda B, Broen J, Torres O, et al. The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype. Ann Rheum Dis 2009; 68:253-256.
    • (2009) Ann Rheum Dis , vol.68 , pp. 253-256
    • Rueda, B.1    Broen, J.2    Torres, O.3
  • 35
    • 33845663156 scopus 로고    scopus 로고
    • Association of the PTPN22 R620W polymorphismwith antitopoisomerase I- and anticentromere antibody-positive systemic sclerosis
    • Gourh P, Tan FK, Assassi S, et al. Association of the PTPN22 R620W polymorphismwith antitopoisomerase I- and anticentromere antibody-positive systemic sclerosis. Arthritis Rheum 2006; 54:3945-3953.
    • (2006) Arthritis Rheum , vol.54 , pp. 3945-3953
    • Gourh, P.1    Tan, F.K.2    Assassi, S.3
  • 36
    • 47249105581 scopus 로고    scopus 로고
    • The PTPN22 620W allele confers susceptibility to systemic sclerosis: Findings of a large case-control study of European Caucasians and a meta-analysis
    • Dieude P, Guedj M, Wipff J, et al. The PTPN22 620W allele confers susceptibility to systemic sclerosis: findings of a large case-control study of European Caucasians and a meta-analysis. Arthritis Rheum 2008; 58:2183-2188.
    • (2008) Arthritis Rheum , vol.58 , pp. 2183-2188
    • Dieude, P.1    Guedj, M.2    Wipff, J.3
  • 37
    • 79951512546 scopus 로고    scopus 로고
    • Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis
    • Diaz-Gallo LM, Gourh P, Broen J, et al. Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis. Ann Rheum Dis 2011; 70:454-462.
    • (2011) Ann Rheum Dis , vol.70 , pp. 454-462
    • Diaz-Gallo, L.M.1    Gourh, P.2    Broen, J.3
  • 38
    • 80051468916 scopus 로고    scopus 로고
    • Independent replication establishes the CD247 gene as a genetic systemic sclerosis susceptibility factor
    • Dieude P, Boileau C, Guedj M, et al. Independent replication establishes the CD247 gene as a genetic systemic sclerosis susceptibility factor. Ann Rheum Dis 2011; 70:1695-1696.
    • (2011) Ann Rheum Dis , vol.70 , pp. 1695-1696
    • Dieude, P.1    Boileau, C.2    Guedj, M.3
  • 39
    • 77949451240 scopus 로고    scopus 로고
    • Association of TNFSF4 (OX40L) polymorphisms with susceptibility to systemic sclerosis
    • Gourh P, Arnett FC, Tan FK, et al. Association of TNFSF4 (OX40L) polymorphisms with susceptibility to systemic sclerosis. Ann Rheum Dis 2010; 69:550-555.
    • (2010) Ann Rheum Dis , vol.69 , pp. 550-555
    • Gourh, P.1    Arnett, F.C.2    Tan, F.K.3
  • 40
    • 79952359835 scopus 로고    scopus 로고
    • A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort
    • Bossini-Castillo L, Broen JC, Simeon CP, et al. A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort. Ann Rheum Dis 2011; 70:638-641.
    • (2011) Ann Rheum Dis , vol.70 , pp. 638-641
    • Bossini-Castillo, L.1    Broen, J.C.2    Simeon, C.P.3
  • 41
    • 84860741366 scopus 로고    scopus 로고
    • Independent replication and meta analysis of association studies establish TNFSF4 as a susceptibility gene preferentially associated with the subset of anticentromere-positive patients with systemic sclerosis
    • Coustet B, Bouaziz M, Dieude P, et al. Independent replication and meta analysis of association studies establish TNFSF4 as a susceptibility gene preferentially associated with the subset of anticentromere-positive patients with systemic sclerosis. J Rheumatol 2012; 39:997-1003.
    • (2012) J Rheumatol , vol.39 , pp. 997-1003
    • Coustet, B.1    Bouaziz, M.2    Dieude, P.3
  • 42
    • 67651229653 scopus 로고    scopus 로고
    • Association of STAT4 polymorphism with systemic sclerosis in a Japanese population
    • Tsuchiya N, Kawasaki A, Hasegawa M, et al. Association of STAT4 polymorphism with systemic sclerosis in a Japanese population. Ann Rheum Dis 2009; 68:1375-1376.
    • (2009) Ann Rheum Dis , vol.68 , pp. 1375-1376
    • Tsuchiya, N.1    Kawasaki, A.2    Hasegawa, M.3
  • 43
    • 65549154046 scopus 로고    scopus 로고
    • The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype
    • Rueda B, Broen J, Simeon C, et al. The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype. Hum Mol Genet 2009; 18:2071-2077.
    • (2009) Hum Mol Genet , vol.18 , pp. 2071-2077
    • Rueda, B.1    Broen, J.2    Simeon, C.3
  • 44
    • 73249149749 scopus 로고    scopus 로고
    • Polymorphisms in TBX21 and STAT4 increase the risk of systemic sclerosis: Evidence of possible gene-gene interaction and alterations in Th1/Th2 cytokines
    • Gourh P, Agarwal SK, Divecha D, et al. Polymorphisms in TBX21 and STAT4 increase the risk of systemic sclerosis: evidence of possible gene-gene interaction and alterations in Th1/Th2 cytokines. Arthritis Rheum 2009; 60:3794-3806.
    • (2009) Arthritis Rheum , vol.60 , pp. 3794-3806
    • Gourh, P.1    Agarwal, S.K.2    Divecha, D.3
  • 45
    • 68049112537 scopus 로고    scopus 로고
    • STAT4 is a genetic risk factor for systemic sclerosis having additive effects with IRF5 on disease susceptibility and related pulmonary fibrosis
    • Dieude P, Guedj M, Wipff J, et al. STAT4 is a genetic risk factor for systemic sclerosis having additive effects with IRF5 on disease susceptibility and related pulmonary fibrosis. Arthritis Rheum 2009; 60:2472-2479.
    • (2009) Arthritis Rheum , vol.60 , pp. 2472-2479
    • Dieude, P.1    Guedj, M.2    Wipff, J.3
  • 46
    • 84855281875 scopus 로고    scopus 로고
    • A rare polymorphism in the gene for Toll-like receptor 2 is associated with systemic sclerosis phenotype and increases the production of inflammatory mediators
    • Broen JC, Bossini-Castillo L, van Bon L, et al. A rare polymorphism in the gene for Toll-like receptor 2 is associated with systemic sclerosis phenotype and increases the production of inflammatory mediators. Arthritis Rheum 2012; 64:264-271.
    • (2012) Arthritis Rheum , vol.64 , pp. 264-271
    • Broen, J.C.1    Bossini-Castillo, L.2    Van Bon, L.3
  • 47
    • 70350521796 scopus 로고    scopus 로고
    • BANK1 is a genetic risk factor for diffuse cutaneous systemic sclerosis and has additive effects with IRF5 and STAT4
    • Dieude P, Wipff J, Guedj M, et al. BANK1 is a genetic risk factor for diffuse cutaneous systemic sclerosis and has additive effects with IRF5 and STAT4. Arthritis Rheum 2009; 60:3447-3454.
    • (2009) Arthritis Rheum , vol.60 , pp. 3447-3454
    • Dieude, P.1    Wipff, J.2    Guedj, M.3
  • 48
    • 77950315193 scopus 로고    scopus 로고
    • BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians
    • Rueda B, Gourh P, Broen J, et al. BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians. Ann Rheum Dis 2010; 69:700-705.
    • (2010) Ann Rheum Dis , vol.69 , pp. 700-705
    • Rueda, B.1    Gourh, P.2    Broen, J.3
  • 49
    • 77958055758 scopus 로고    scopus 로고
    • Association of the TNFAIP3 rs5029939 variant with systemic sclerosis in the European Caucasian population
    • Dieude P, Guedj M, Wipff J, et al. Association of the TNFAIP3 rs5029939 variant with systemic sclerosis in the European Caucasian population. Ann Rheum Dis 2010; 69:1958-1964.
    • (2010) Ann Rheum Dis , vol.69 , pp. 1958-1964
    • Dieude, P.1    Guedj, M.2    Wipff, J.3
  • 50
    • 84873830898 scopus 로고    scopus 로고
    • PLD4 as a novel susceptibility gene for systemic sclerosis in a Japanese population
    • Terao C, Ohmura K, Kawaguchi Y, et al. PLD4 as a novel susceptibility gene for systemic sclerosis in a Japanese population. Arthritis Rheum 2013; 65:472-480.
    • (2013) Arthritis Rheum , vol.65 , pp. 472-480
    • Terao, C.1    Ohmura, K.2    Kawaguchi, Y.3
  • 51
    • 84864447493 scopus 로고    scopus 로고
    • Brief report: Candidate gene study in systemic sclerosis identifies a rare and functional variant of the TNFAIP3 locus as a risk factor for polyautoimmunity
    • Koumakis E, Giraud M, Dieude P, et al. Brief report: candidate gene study in systemic sclerosis identifies a rare and functional variant of the TNFAIP3 locus as a risk factor for polyautoimmunity. Arthritis Rheum 2012; 64:2746-2752.
    • (2012) Arthritis Rheum , vol.64 , pp. 2746-2752
    • Koumakis, E.1    Giraud, M.2    Dieude, P.3
  • 52
    • 84889042309 scopus 로고    scopus 로고
    • A regulatory variant in CCR6 is associated with susceptibility to antitopoisomerase-positive systemic sclerosis
    • Koumakis E, Bouaziz M, Dieude P, et al. A regulatory variant in CCR6 is associated with susceptibility to antitopoisomerase-positive systemic sclerosis. Arthritis Rheum 2013; 65:3202-3208.
    • (2013) Arthritis Rheum , vol.65 , pp. 3202-3208
    • Koumakis, E.1    Bouaziz, M.2    Dieude, P.3
  • 53
    • 66449100302 scopus 로고    scopus 로고
    • Association of a functional polymorphism in the IRF5 region with systemic sclerosis in a Japanese population
    • Ito I, Kawaguchi Y, Kawasaki A, et al. Association of a functional polymorphism in the IRF5 region with systemic sclerosis in a Japanese population. Arthritis Rheum 2009; 60:1845-1850.
    • (2009) Arthritis Rheum , vol.60 , pp. 1845-1850
    • Ito, I.1    Kawaguchi, Y.2    Kawasaki, A.3
  • 54
    • 58249123282 scopus 로고    scopus 로고
    • Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: A new perspective for pulmonary fibrosis
    • Dieude P, Guedj M, Wipff J, et al. Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis. Arthritis Rheum 2009; 60:225-233.
    • (2009) Arthritis Rheum , vol.60 , pp. 225-233
    • Dieude, P.1    Guedj, M.2    Wipff, J.3
  • 55
    • 77951792926 scopus 로고    scopus 로고
    • Phenotype-haplotype correlation of IRF5 in systemic sclerosis: Role of 2 haplotypes in disease severity
    • Dieude P, Dawidowicz K, Guedj M, et al. Phenotype-haplotype correlation of IRF5 in systemic sclerosis: role of 2 haplotypes in disease severity. J Rheumatol 2010; 37:987-992.
    • (2010) J Rheumatol , vol.37 , pp. 987-992
    • Dieude, P.1    Dawidowicz, K.2    Guedj, M.3
  • 56
    • 75349113494 scopus 로고    scopus 로고
    • Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations
    • Gourh P, Agarwal SK, Martin E, et al. Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations. J Autoimmun 2010; 34:155-162.
    • (2010) J Autoimmun , vol.34 , pp. 155-162
    • Gourh, P.1    Agarwal, S.K.2    Martin, E.3
  • 57
    • 77649114558 scopus 로고    scopus 로고
    • Association of the FAM167A-BLK region with systemic sclerosis
    • Ito I, Kawaguchi Y, Kawasaki A, et al. Association of the FAM167A-BLK region with systemic sclerosis. Arthritis Rheum 2010; 62:890-895.
    • (2010) Arthritis Rheum , vol.62 , pp. 890-895
    • Ito, I.1    Kawaguchi, Y.2    Kawasaki, A.3
  • 58
    • 79959856965 scopus 로고    scopus 로고
    • C8orf13-BLK is a genetic risk locus for systemic sclerosis and has additive effects with BANK1: Results from a large French cohort and meta-analysis
    • Coustet B, Dieude P, Guedj M, et al. C8orf13-BLK is a genetic risk locus for systemic sclerosis and has additive effects with BANK1: results from a large french cohort and meta-analysis. Arthritis Rheum 2011; 63:2091-2096.
    • (2011) Arthritis Rheum , vol.63 , pp. 2091-2096
    • Coustet, B.1    Dieude, P.2    Guedj, M.3
  • 59
    • 84857782321 scopus 로고    scopus 로고
    • The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis
    • Martin JE, Carmona FD, Broen JC, et al. The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis. Genes Immun 2012; 13:191-196.
    • (2012) Genes Immun , vol.13 , pp. 191-196
    • Martin, J.E.1    Carmona, F.D.2    Broen, J.C.3
  • 60
    • 65249164067 scopus 로고    scopus 로고
    • The -670G>A polymorphism in the FAS gene promoter region influences the susceptibility to systemic sclerosis
    • Liakouli V, Manetti M, Pacini A, et al. The -670G>A polymorphism in the FAS gene promoter region influences the susceptibility to systemic sclerosis. Ann Rheum Dis 2009; 68:584-590.
    • (2009) Ann Rheum Dis , vol.68 , pp. 584-590
    • Liakouli, V.1    Manetti, M.2    Pacini, A.3
  • 61
    • 73249130667 scopus 로고    scopus 로고
    • The FAS -670A>G polymorphism influences susceptibility to systemic sclerosis phenotypes
    • Broen J, Gourh P, Rueda B, et al. The FAS -670A>G polymorphism influences susceptibility to systemic sclerosis phenotypes. Arthritis Rheum 2009; 60:3815-3820.
    • (2009) Arthritis Rheum , vol.60 , pp. 3815-3820
    • Broen, J.1    Gourh, P.2    Rueda, B.3
  • 62
    • 82955245641 scopus 로고    scopus 로고
    • Novel identification of the IRF7 region as an anticentromere autoantibody propensity locus in systemic sclerosis
    • Carmona FD, Gutala R, Simeon CP, et al. Novel identification of the IRF7 region as an anticentromere autoantibody propensity locus in systemic sclerosis. Ann Rheum Dis 2012; 71:114-119.
    • (2012) Ann Rheum Dis , vol.71 , pp. 114-119
    • Carmona, F.D.1    Gutala, R.2    Simeon, C.P.3
  • 63
    • 77957663155 scopus 로고    scopus 로고
    • Association of a KCNA5 gene polymorphism with systemic sclerosis-associated pulmonary arterial hypertension in the European Caucasian population
    • Wipff J, Dieude P, Guedj M, et al. Association of a KCNA5 gene polymorphism with systemic sclerosis-associated pulmonary arterial hypertension in the European Caucasian population. Arthritis Rheum 2010; 62:3093-3100.
    • (2010) Arthritis Rheum , vol.62 , pp. 3093-3100
    • Wipff, J.1    Dieude, P.2    Guedj, M.3
  • 64
    • 79952362007 scopus 로고    scopus 로고
    • NLRP1 influences the systemic sclerosis phenotype: A new clue for the contribution of innate immunity in systemic sclerosis-related fibrosing alveolitis pathogenesis
    • Dieude P, Guedj M, Wipff J, et al. NLRP1 influences the systemic sclerosis phenotype: a new clue for the contribution of innate immunity in systemic sclerosis-related fibrosing alveolitis pathogenesis. Ann Rheum Dis 2011; 70:668-674.
    • (2011) Ann Rheum Dis , vol.70 , pp. 668-674
    • Dieude, P.1    Guedj, M.2    Wipff, J.3
  • 65
    • 79953687390 scopus 로고    scopus 로고
    • Association of the CD226 Ser(307) variant with systemic sclerosis: Evidence of a contribution of costimulation pathways in systemic sclerosis pathogenesis
    • Dieude P, Guedj M, Truchetet ME, et al. Association of the CD226 Ser(307) variant with systemic sclerosis: evidence of a contribution of costimulation pathways in systemic sclerosis pathogenesis. Arthritis Rheum2011; 63:1097-1105.
    • (2011) Arthritis Rheum , vol.63 , pp. 1097-1105
    • Dieude, P.1    Guedj, M.2    Truchetet, M.E.3
  • 66
    • 33750951706 scopus 로고    scopus 로고
    • Macrophage migration inhibitory factor promoter polymorphisms and the clinical expression of scleroderma
    • Wu SP, Leng L, Feng Z, et al. Macrophage migration inhibitory factor promoter polymorphisms and the clinical expression of scleroderma. Arthritis Rheum 2006; 54:3661-3669.
    • (2006) Arthritis Rheum , vol.54 , pp. 3661-3669
    • Wu, S.P.1    Leng, L.2    Feng, Z.3
  • 67
    • 84855185868 scopus 로고    scopus 로고
    • Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population
    • Bossini-Castillo L, Simeon CP, Beretta L, et al. Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population. Rheumatology (Oxford) 2011; 50:1976-1981.
    • (2011) Rheumatology (Oxford) , vol.50 , pp. 1976-1981
    • Bossini-Castillo, L.1    Simeon, C.P.2    Beretta, L.3
  • 68
    • 82455198713 scopus 로고    scopus 로고
    • Evidence of the contribution of the X chromosome to systemic sclerosis susceptibility: Association with the functional IRAK1196Phe/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 IRAK1196Phe/532Ser haplotype. Arthritis Rheum 2011; 63:3979-3987.
    • (2011) Arthritis Rheum , vol.63 , pp. 3979-3987
    • Dieude, P.1    Bouaziz, M.2    Guedj, M.3
  • 69
    • 84887451383 scopus 로고    scopus 로고
    • New insight on the Xq28 association with systemic sclerosis
    • Carmona FD, Cenit MC, Diaz-Gallo LM, et al. New insight on the Xq28 association with systemic sclerosis. Ann Rheum Dis 2013; 72:2032-2038.
    • (2013) Ann Rheum Dis , vol.72 , pp. 2032-2038
    • Carmona, F.D.1    Cenit, M.C.2    Diaz-Gallo, L.M.3
  • 70
    • 84875953107 scopus 로고    scopus 로고
    • Systemic sclerosis: Genetics and epigenetics
    • Luo Y, Wang Y, Wang Q, et al. Systemic sclerosis: genetics and epigenetics. J Autoimmun 2013; 41:161-167.
    • (2013) J Autoimmun , vol.41 , pp. 161-167
    • Luo, Y.1    Wang, Y.2    Wang, Q.3
  • 71
    • 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; 131:1023-1037.
    • (2012) Hum Genet , vol.131 , pp. 1023-1037
    • Martin, J.E.1    Bossini-Castillo, L.2    Martin, J.3
  • 72
    • 84872129706 scopus 로고    scopus 로고
    • Genetics of scleroderma: Implications for personalized medicine?
    • Assassi S, Radstake TR, Mayes MD, et al. Genetics of scleroderma: implications for personalized medicine? BMC Med 2013; 11:9.
    • (2013) BMC Med , vol.11 , pp. 9
    • Assassi, S.1    Radstake, T.R.2    Mayes, M.D.3
  • 73
    • 84928811248 scopus 로고    scopus 로고
    • Identification of NF-kappaB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis
    • Arismendi M, Giraud M, Ruzehaji N, et al. Identification of NF-kappaB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis. Arthritis Res Ther 2015; 17:71.
    • (2015) Arthritis Res Ther , vol.17 , pp. 71
    • Arismendi, M.1    Giraud, M.2    Ruzehaji, N.3
  • 74
    • 84925044936 scopus 로고    scopus 로고
    • Recent advances in the genetics of systemic sclerosis: Toward biological and clinical significance
    • Korman BD, Criswell LA. Recent advances in the genetics of systemic sclerosis: toward biological and clinical significance. Curr Rheumatol Rep 2015; 17:21.
    • (2015) Curr Rheumatol Rep , vol.17 , pp. 21
    • Korman, B.D.1    Criswell, L.A.2
  • 75
    • 84928898909 scopus 로고    scopus 로고
    • Systemic sclerosis is a complex disease associated mainly with immune regulatory and inflammatory genes
    • Jin J, Chou C, Lima M, et al. Systemic sclerosis is a complex disease associated mainly with immune regulatory and inflammatory genes. Open Rheumatol J 2014; 8:29-42.
    • (2014) Open Rheumatol J , vol.8 , pp. 29-42
    • Jin, J.1    Chou, C.2    Lima, M.3
  • 76
    • 84923338418 scopus 로고    scopus 로고
    • Epigenetics, the holy grail in the pathogenesis of systemic sclerosis
    • [Epub ahead of print]
    • Altorok N, Almeshal N, Wang Y, et al. Epigenetics, the holy grail in the pathogenesis of systemic sclerosis. Rheumatology (Oxford) 2014. [Epub ahead of print]
    • (2014) Rheumatology (Oxford)
    • Altorok, N.1    Almeshal, N.2    Wang, Y.3
  • 77
    • 84908506366 scopus 로고    scopus 로고
    • The role of genetics and epigenetics in the pathogenesis of systemic sclerosis
    • Broen JC, Radstake TR, Rossato M. The role of genetics and epigenetics in the pathogenesis of systemic sclerosis. Nat Rev Rheumatol 2014; 10:671-681.
    • (2014) Nat Rev Rheumatol , vol.10 , pp. 671-681
    • Broen, J.C.1    Radstake, T.R.2    Rossato, M.3
  • 78
    • 84905040885 scopus 로고    scopus 로고
    • Review: Interstitial lung disease associated with systemic sclerosis and idiopathic pulmonary fibrosis: How similar and distinct?
    • Herzog EL, Mathur A, Tager AM, et al. Review: interstitial lung disease associated with systemic sclerosis and idiopathic pulmonary fibrosis: how similar and distinct? Arthritis Rheumatol 2014; 66:1967-1978.
    • (2014) Arthritis Rheumatol , vol.66 , pp. 1967-1978
    • Herzog, E.L.1    Mathur, A.2    Tager, A.M.3
  • 79
    • 84922224910 scopus 로고    scopus 로고
    • Systems level analysis of systemic sclerosis shows a network of immune and profibrotic pathways connected with genetic polymorphisms
    • Mahoney JM, Taroni J, Martyanov V, et al. Systems level analysis of systemic sclerosis shows a network of immune and profibrotic pathways connected with genetic polymorphisms. PLoS Comput Biol 2015; 11:e1004005.
    • (2015) PLoS Comput Biol , vol.11 , pp. e1004005
    • Mahoney, J.M.1    Taroni, J.2    Martyanov, V.3
  • 81
    • 84878435061 scopus 로고    scopus 로고
    • Implication of IL-2/IL-21 region in systemic sclerosis genetic susceptibility
    • Diaz-Gallo LM, Simeon CP, Broen JC, et al. Implication of IL-2/IL-21 region in systemic sclerosis genetic susceptibility. Ann Rheum Dis 2013; 72:1233-1238.
    • (2013) Ann Rheum Dis , vol.72 , pp. 1233-1238
    • Diaz-Gallo, L.M.1    Simeon, C.P.2    Broen, J.C.3
  • 82
    • 84923326765 scopus 로고    scopus 로고
    • Genetic and epigenetic fine mapping of causal autoimmune disease variants
    • Farh KK, Marson A, Zhu J, et al. Genetic and epigenetic fine mapping of causal autoimmune disease variants. Nature 2015; 518:337-343.
    • (2015) Nature , vol.518 , pp. 337-343
    • Farh, K.K.1    Marson, A.2    Zhu, J.3
  • 83
    • 84855608174 scopus 로고    scopus 로고
    • Primary biliary cirrhosis associated with systemic sclerosis: Diagnostic and clinical challenges
    • Rigamonti C, Bogdanos DP, Mytilinaiou MG, et al. Primary biliary cirrhosis associated with systemic sclerosis: diagnostic and clinical challenges. Int J Rheumatol 2011; 2011:976427.
    • (2011) Int J Rheumatol , vol.2011 , pp. 976427
    • Rigamonti, C.1    Bogdanos, D.P.2    Mytilinaiou, M.G.3
  • 84
    • 84865390711 scopus 로고    scopus 로고
    • Introducing polyautoimmunity: Secondary autoimmune diseases no longer exist
    • Rojas-Villarraga A, Amaya-Amaya J, Rodriguez-Rodriguez A, et al. Introducing polyautoimmunity: secondary autoimmune diseases no longer exist. Autoimmune Dis 2012; 2012:254319.
    • (2012) Autoimmune Dis , vol.2012 , pp. 254319
    • Rojas-Villarraga, A.1    Amaya-Amaya, J.2    Rodriguez-Rodriguez, A.3
  • 85
    • 84878484584 scopus 로고    scopus 로고
    • Analysis of the genetic basis of disease in the context of worldwide human relationships and migration
    • Corona E, Chen R, Sikora M, et al. Analysis of the genetic basis of disease in the context of worldwide human relationships and migration. PLoS Genet 2013; 9:e1003447.
    • (2013) PLoS Genet , vol.9 , pp. e1003447
    • Corona, E.1    Chen, R.2    Sikora, M.3
  • 86
    • 84942545494 scopus 로고    scopus 로고
    • Genetics of autoimmune diseases: Insights from population genetics
    • [Epub ahead of print]
    • Ramos PS, Shedlock AM, Langefeld CL. Genetics of autoimmune diseases: insights from population genetics. J Hum Genet 2015; doi: 10.1038/jhg.2015.94. [Epub ahead of print]
    • (2015) J Hum Genet
    • Ramos, P.S.1    Shedlock, A.M.2    Langefeld, C.L.3
  • 87
    • 84875415375 scopus 로고    scopus 로고
    • Population genetic tools for dissecting innate immunity in humans
    • Quintana-Murci L, Clark AG. Population genetic tools for dissecting innate immunity in humans. Nat Rev Immunol 2013; 13:280-293.
    • (2013) Nat Rev Immunol , vol.13 , pp. 280-293
    • Quintana-Murci, L.1    Clark, A.G.2
  • 88
    • 84908611170 scopus 로고    scopus 로고
    • Fibrosis: Ultimate and proximate causes
    • Thannickal VJ, Zhou Y, Gaggar A, et al. Fibrosis: ultimate and proximate causes. J Clin Invest 2014; 124:4673-4677.
    • (2014) J Clin Invest , vol.124 , pp. 4673-4677
    • Thannickal, V.J.1    Zhou, Y.2    Gaggar, A.3
  • 89
    • 84923362619 scopus 로고    scopus 로고
    • Integrative analysis of 111 reference human epigenomes
    • Roadmap Epigenomics C, Kundaje A, Meuleman W, et al. Integrative analysis of 111 reference human epigenomes. Nature 2015; 518:317-330.
    • (2015) Nature , vol.518 , pp. 317-330
    • Roadmap Epigenomics, C.1    Kundaje, A.2    Meuleman, W.3


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