SEARCH

SEARCH BY CITATION

REFERENCES

  • 1
    Chifflot H, Fautrel B, Sordet C, Chatelus E, Sibilia J. Incidence and prevalence of systemic sclerosis: a systematic literature review. Semin Arthritis Rheum 2008; 37: 22335.
  • 2
    Kawut SM, Taichman DB, Archer-Chicko CL, Palevsky HI, Kimmel SE. Hemodynamics and survival in patients with pulmonary arterial hypertension related to systemic sclerosis. Chest 2003; 123: 34450.
  • 3
    Ioannidis JP, Vlachoyiannopoulos PG, Haidich AB, Medsger TA Jr, Lucas M, Michet CJ, et al. Mortality in systemic sclerosis: an international meta-analysis of individual patient data. Am J Med 2005; 118: 210.
  • 4
    Bhattacharyya S, Wei J, Varga J. Understanding fibrosis in systemic sclerosis: shifting paradigms, emerging opportunities. Nat Rev Rheumatol 2012; 8: 4254.
  • 5
    Romano E, Manetti M, Guiducci S, Ceccarelli C, Allanore Y, Matucci-Cerinic M. The genetics of systemic sclerosis: an update. Clin Exp Rheumatol 2011; 29: S7586.
  • 6
    Arnett FC, Cho M, Chatterjee S, Aguilar MB, Reveille JD, Mayes MD. Familial occurrence frequencies and relative risks for systemic sclerosis (scleroderma) in three United States cohorts. Arthritis Rheum 2001; 44: 135962.
  • 7
    Terao C, Ohmura K, Katayama M, Takahashi M, Kokubo M, Diop G, et al. Myelin basic protein as a novel genetic risk factor in rheumatoid arthritis: a genome-wide study combined with immunological analyses. PLoS One 2011; 6: e20457.
  • 8
    Radstake TR, Gorlova O, Rueda B, Martin JE, Alizadeh BZ, Palomino-Morales R, et al. Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nat Genet 2010; 42: 4269.
  • 9
    Allanore Y, Saad M, Dieude P, Avouac J, Distler JH, Amouyel P, et al. Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. PLoS Genet 2011; 7: e1002091.
  • 10
    Gorlova O, Martin JE, Rueda B, Koeleman BP, Ying J, Teruel M, et al. Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. PLoS Genet 2011; 7: e1002178.
  • 11
    Rueda B, Broen J, Simeon C, Hesselstrand R, Diaz B, Suarez H, et al. The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype. Hum Mol Genet 2009; 18: 20717.
  • 12
    Dieude P, Guedj M, Wipff J, Avouac J, Fajardy I, Diot E, et al. Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis. Arthritis Rheum 2009; 60: 22533.
  • 13
    Gourh P, Agarwal SK, Divecha D, Assassi S, Paz G, Arora-Singh RK, 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: 3794806.
  • 14
    Dieude P, Guedj M, Wipff J, Ruiz B, Riemekasten G, Airo P, 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: 66874.
  • 15
    Bossini-Castillo L, Broen JC, Simeon CP, Beretta L, Vonk MC, Ortego-Centeno N, 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: 63841.
  • 16
    Dieude P, Guedj M, Truchetet ME, Wipff J, Revillod L, Riemekasten G, et al. Association of the CD226 Ser307 variant with systemic sclerosis: evidence of a contribution of costimulation pathways in systemic sclerosis pathogenesis. Arthritis Rheum 2011; 63: 1097105.
  • 17
    Gourh P, Agarwal SK, 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: 15562.
  • 18
    Dieude P, Guedj M, Wipff J, Ruiz B, Riemekasten G, Matucci-Cerinic M, et al. Association of the TNFAIP3 rs5029939 variant with systemic sclerosis in the European Caucasian population. Ann Rheum Dis 2010; 69: 195864.
  • 19
    Tsuchiya N, Kawasaki A, Hasegawa M, Fujimoto M, Takehara K, Kawaguchi Y, et al. Association of STAT4 polymorphism with systemic sclerosis in a Japanese population. Ann Rheum Dis 2009; 68: 13756.
  • 20
    Ito I, Kawaguchi Y, Kawasaki A, Hasegawa M, Ohashi J, Hikami K, et al. Association of a functional polymorphism in the IRF5 region with systemic sclerosis in a Japanese population. Arthritis Rheum 2009; 60: 184550.
  • 21
    Ito I, Kawaguchi Y, Kawasaki A, Hasegawa M, Ohashi J, Kawamoto M, et al. Association of the FAM167A–BLK region with systemic sclerosis. Arthritis Rheum 2010; 62: 8905.
  • 22
    Hasebe N, Kawasaki A, Ito I, Kawamoto M, Hasegawa M, Fujimoto M, et al. Association of UBE2L3 polymorphisms with diffuse cutaneous systemic sclerosis in a Japanese population. Ann Rheum Dis 2012; 71: 125960.
  • 23
    Zhou X, Lee JE, Arnett FC, Xiong M, Park MY, Yoo YK, et al. HLA–DPB1 and DPB2 are genetic loci for systemic sclerosis: a genome-wide association study in Koreans with replication in North Americans. Arthritis Rheum 2009; 60: 380714.
  • 24
    Suzuki A, Kochi Y, Okada Y, Yamamoto K. Insight from genome-wide association studies in rheumatoid arthritis and multiple sclerosis. FEBS Lett 2011; 585: 362732.
  • 25
    Plenge RM, Seielstad M, Padyukov L, Lee AT, Remmers EF, Ding B, et al. TRAF1-C5 as a risk locus for rheumatoid arthritis: a genomewide study. N Engl J Med 2007; 357: 1199209.
  • 26
    Remmers EF, Plenge RM, Lee AT, Graham RR, Hom G, Behrens TW, et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 2007; 357: 97786.
  • 27
    Plenge RM, Cotsapas C, Davies L, Price AL, de Bakker PI, Maller J, et al. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet 2007; 39: 147782.
  • 28
    Thomson W, Barton A, Ke X, Eyre S, Hinks A, Bowes J, et al. Rheumatoid arthritis association at 6q23. Nat Genet 2007; 39: 14313.
  • 29
    Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, et al. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 2004; 75: 3307.
  • 30
    Diaz-Gallo LM, Gourh P, Broen J, Simeon C, Fonollosa V, Ortego-Centeno N, et al. Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis. Ann Rheum Dis 2011; 70: 45462.
  • 31
    Okada Y, Terao C, Ikari K, Kochi Y, Ohmura K, Suzuki A, et al. Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. Nat Genet 2012; 44: 5116.
  • 32
    Subcommittee for scleroderma criteria of the American Rheumatism Association Diagnostic and Therapeutic Criteria Committee. Preliminary criteria for the classification of systemic sclerosis (scleroderma). Arthritis Rheum 1980; 23: 58190.
  • 33
    LeRoy EC, Black C, Fleischmajer R, Jablonska S, Krieg T, Medsger TA Jr, et al. Scleroderma (systemic sclerosis): classification, subsets and pathogenesis. J Rheumatol 1988; 15: 2025.
  • 34
    1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 2010; 467: 106173.
  • 35
    Mimura Y, Ihn H, Jinnin M, Asano Y, Yamane K, Yazawa N, et al. Rheumatoid factor isotypes and anti-agalactosyl IgG antibodies in systemic sclerosis. Br J Dermatol 2004; 151: 8038.
  • 36
    Santiago M, Baron M, Miyachi K, Fritzler MJ, Abu-Hakima M, Leclercq S, et al. A comparison of the frequency of antibodies to cyclic citrullinated peptides using a third generation anti-CCP assay (CCP3) in systemic sclerosis, primary biliary cirrhosis and rheumatoid arthritis. Clin Rheumatol 2008; 27: 7783.
  • 37
    Yoshikawa F, Banno Y, Otani Y, Yamaguchi Y, Nagakura-Takagi Y, Morita N, et al. Phospholipase D family member 4, a transmembrane glycoprotein with no phospholipase D activity, expression in spleen and early postnatal microglia. PLoS One 2010; 5: e13932.
  • 38
    Otani Y, Yamaguchi Y, Sato Y, Furuichi T, Ikenaka K, Kitani H, et al. PLD4 is involved in phagocytosis of microglia: expression and localization changes of PLD4 are correlated with activation state of microglia. PLoS One 2011; 6: e27544.
  • 39
    Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C, Thorne N, et al. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 2007; 315: 84853.
  • 40
    Cunninghame Graham DS, Morris DL, Bhangale TR, Criswell LA, Syvanen AC, Ronnblom L, et al. Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus. PLoS Genet 2011; 7: e1002341.
  • 41
    Higgs BW, Liu Z, White B, Zhu W, White WI, Morehouse C, et al. Patients with systemic lupus erythematosus, myositis, rheumatoid arthritis and scleroderma share activation of a common type I interferon pathway. Ann Rheum Dis 2011; 70: 202936.
  • 42
    Whitfield ML, Finlay DR, Murray JI, Troyanskaya OG, Chi JT, Pergamenschikov A, et al. Systemic and cell type-specific gene expression patterns in scleroderma skin. Proc Natl Acad Sci U S A 2003; 100: 1231924.
  • 43
    Lafyatis R, Kissin E, York M, Farina G, Viger K, Fritzler MJ, et al. B cell depletion with rituximab in patients with diffuse cutaneous systemic sclerosis. Arthritis Rheum 2009; 60: 57883.
  • 44
    Smith V, Van Praet JT, Vandooren B, Van der Cruyssen B, Naeyaert JM, Decuman S, et al. Rituximab in diffuse cutaneous systemic sclerosis: an open-label clinical and histopathological study. Ann Rheum Dis 2010; 69: 1937.
  • 45
    Hambleton S, Salem S, Bustamante J, Bigley V, Boisson-Dupuis S, Azevedo J, et al. IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med 2011; 365: 12738.