Dissecting the heterogeneity of skin gene expression patterns in systemic sclerosis

Arthritis and Rheumatology

Volumn 67, Issue 11, 2015, Pages 3016-3026

  Assassi, Shervin ^a   Swindell, William R ^b   Wu, Minghua ^a   Tan, Filemon D ^a   Khanna, Dinesh ^b   Furst, Daniel E ^c   Tashkin, Donald P ^c   Jahan Tigh, Richard R ^a   Mayes, Maureen D ^a   Gudjonsson, Johann E ^b   Chang, Jeffrey T ^a  

^a UNIVERSITY OF TEXAS   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

KERATIN; TRANSCRIPTOME;

ARTICLE; CELL ACTIVATION; CLINICAL FEATURE; CONTROLLED STUDY; DENDRITIC CELL; DISEASE DURATION; FEMALE; FOLLOW UP; GENE EXPRESSION; GENE EXPRESSION PROFILING; HUMAN; HUMAN TISSUE; INTERSTITIAL LUNG DISEASE; KERATINOCYTE; MACROPHAGE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SKIN BIOPSY; SKIN FIBROBLAST; SKINFOLD THICKNESS; SYSTEMIC SCLEROSIS; ADULT; AGED; FIBROBLAST; GENETICS; METABOLISM; MIDDLE AGED; PATHOLOGY; SKIN;

ADULT; AGED; FEMALE; FIBROBLASTS; GENE EXPRESSION; HUMANS; MALE; MIDDLE AGED; SCLERODERMA, SYSTEMIC; SKIN; TRANSCRIPTOME;

EID: 84940898743     PISSN: 23265191     EISSN: 23265205     Source Type: Journal    
DOI: 10.1002/art.39289     Document Type: Article

References (41)

1. Elhai M, Meune C, Avouac J, Kahan A, Allanore Y., Trends in mortality in patients with systemic sclerosis over 40 years: a systematic review and meta-analysis of cohort studies. Rheumatology (Oxford) 2011; 51: 1017-26.
2. Bullinger L, Dohner K, Bair E, Frohling S, Schlenk RF, Tibshirani R, et al., Use of gene-expression profiling to identify prognostic subclasses in adult acute myeloid leukemia. N Engl J Med 2004; 350: 1605-16.
3. Baechler EC, Batliwalla FM, Karypis G, Gaffney PM, Ortmann WA, Espe KJ, et al., Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. Proc Natl Acad Sci U S A 2003; 100: 2610-5.
4. Beer DG, Kardia SL, Huang CC, Giordano TJ, Levin AM, Misek DE, et al., Gene-expression profiles predict survival of patients with lung adenocarcinoma. Nat Med 2002; 8: 816-24.
5. Van Baarsen LG, Vosslamber S, Tijssen M, Baggen JM, van der Voort LF, Killestein J, et al., Pharmacogenomics of interferon-β therapy in multiple sclerosis: baseline IFN signature determines pharmacological differences between patients. PLoS One 2008; 3: e1927.
6. Kandoth C, Schultz N, Cherniack AD, Akbani R, Liu Y, Shen H, et al., Integrated genomic characterization of endometrial carcinoma. Nature 2013; 497: 67-73.
7. Gardner H, Shearstone JR, Bandaru R, Crowell T, Lynes M, Trojanowska M, et al., Gene profiling of scleroderma skin reveals robust signatures of disease that are imperfectly reflected in the transcript profiles of explanted fibroblasts. Arthritis Rheum 2006; 54: 1961-73.
8. Hsu E, Shi H, Jordan RM, Lyons-Weiler J, Pilewski JM, Feghali-Bostwick CA., Lung tissues in patients with systemic sclerosis have gene expression patterns unique to pulmonary fibrosis and pulmonary hypertension. Arthritis Rheum 2011; 63: 783-94.
9. Milano A, Pendergrass SA, Sargent JL, George LK, McCalmont TH, Connolly MK, et al., Molecular subsets in the gene expression signatures of scleroderma skin. PLoS One 2008; 3: e2696.
10. 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: 12319-24.
11. Assassi S, Mayes MD, Arnett FC, Gourh P, Agarwal SK, McNearney TA, et al., Systemic sclerosis and lupus: points in an interferon-mediated continuum. Arthritis Rheum 2010; 62: 589-98.
12. Christmann RB, Hayes E, Pendergrass S, Padilla C, Farina G, Affandi AJ, et al., Interferon and alternative activation of monocyte/macrophages in systemic sclerosis-associated pulmonary arterial hypertension. Arthritis Rheum 2011; 63: 1718-28.
13. 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: 2029-36.
14. Streicher K, Morehouse CA, Groves CJ, Rajan B, Pilataxi F, Lehmann KP, et al., The plasma cell signature in autoimmune disease. Arthritis Rheumatol 2014; 66: 173-84.
15. Tan FK, Zhou X, Mayes MD, Gourh P, Guo X, Marcum C, et al., Signatures of differentially regulated interferon gene expression and vasculotrophism in the peripheral blood cells of systemic sclerosis patients. Rheumatology (Oxford) 2006; 45: 694-702.
16. Hinchcliff M, Huang CC, Wood TA, Mahoney JM, Martyanov V, Bhattacharyya S, et al., Molecular signatures in skin associated with clinical improvement during mycophenolate treatment in systemic sclerosis. J Invest Dermatol 2013; 133: 1979-89.
17. Pendergrass SA, Lemaire R, Francis IP, Mahoney JM, Lafyatis R, Whitfield ML., Intrinsic gene expression subsets of diffuse cutaneous systemic sclerosis are stable in serial skin biopsies. J Invest Dermatol 2012; 132: 1363-73.
18. Assassi S, Sharif R, Lasky RE, McNearney TA, Estrada YM, Draeger HT, et al., Predictors of interstitial lung disease in early systemic sclerosis: a prospective longitudinal study of the GENISOS cohort. Arthritis Res Ther 2010; 12: R166.
19. Khanna D, Saggar R, Mayes MD, Abtin F, Clements PJ, Maranian P, et al., A one-year, phase I/IIa, open-label pilot trial of imatinib mesylate in the treatment of systemic sclerosis-associated active interstitial lung disease. Arthritis Rheum 2011; 63: 3540-6.
20. Van den Hoogen F, Khanna D, Fransen J, Johnson SR, Baron M, Tyndall A, et al., 2013 classification criteria for systemic sclerosis: an American College of Rheumatology/European League Against Rheumatism collaborative initiative. Arthritis Rheum 2013; 65: 2737-47.
21. 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: 202-5.
22. Clements P, Lachenbruch P, Siebold J, White B, Weiner S, Martin R, et al., Inter and intraobserver variability of total skin thickness score (modified Rodnan TSS) in systemic sclerosis. J Rheumatol 1995; 22: 1281-5.
23. Tusher VG, Tibshirani R, Chu G., Significance analysis of microarrays applied to the ionizing radiation response. Proc Natl Acad Sci U S A 2001; 98: 5116-21.
24. Kenny PA, Enver T, Ashworth A., Receptor and secreted targets of Wnt-1/β-catenin signalling in mouse mammary epithelial cells. BMC Cancer 2005; 5: 3.
25. Swindell WR, Johnston A, Voorhees JJ, Elder JT, Gudjonsson JE., Dissecting the psoriasis transcriptome: inflammatory- and cytokine-driven gene expression in lesions from 163 patients. BMC Genomics 2013; 14: 527.
26. Palmer C, Diehn M, Alizadeh AA, Brown PO., Cell-type specific gene expression profiles of leukocytes in human peripheral blood. BMC Genomics 2006; 7: 115.
27. Haider AS, Lowes MA, Suarez-Farinas M, Zaba LC, Cardinale I, Blumenberg M, et al., Cellular genomic maps help dissect pathology in human skin disease. J Invest Dermatol 2008; 128: 606-15.
28. Swindell WR, Johnston A, Xing X, Voorhees JJ, Elder JT, Gudjonsson JE., Modulation of epidermal transcription circuits in psoriasis: new links between inflammation and hyperproliferation. PLoS One 2013; 8: e79253.
29. Swindell WR, Stuart PE, Sarkar MK, Voorhees JJ, Elder JT, Johnston A, et al., Cellular dissection of psoriasis for transcriptome analyses and the post-GWAS era. BMC Med Genomics 2014; 7: 27.
30. Tabata H, Hara N, Otsuka S, Yamakage A, Yamazaki S, Koibuchi N., Correlation between diffuse pigmentation and keratinocyte-derived endothelin-1 in systemic sclerosis. Int J Dermatol 2000; 39: 899-902.
31. Rudnicka L, Varga J, Christiano AM, Iozzo RV, Jimenez SA, Uitto J., Elevated expression of type VII collagen in the skin of patients with systemic sclerosis: regulation by transforming growth factor-β. J Clin Invest 1994; 93: 1709-15.
32. Distler O, Pap T, Kowal-Bielecka O, Meyringer R, Guiducci S, Landthaler M, et al., Overexpression of monocyte chemoattractant protein 1 in systemic sclerosis: role of platelet-derived growth factor and effects on monocyte chemotaxis and collagen synthesis. Arthritis Rheum 2001; 44: 2665-78.
33. Davies CA, Jeziorska M, Freemont AJ, Herrick AL., The differential expression of VEGF, VEGFR-2, and GLUT-1 proteins in disease subtypes of systemic sclerosis. Hum Pathol 2006; 37: 190-7.
34. Distler JH, Jungel A, Kowal-Bielecka O, Michel BA, Gay RE, Sprott H, et al., Expression of interleukin-21 receptor in epidermis from patients with systemic sclerosis. Arthritis Rheum 2005; 52: 856-64.
35. Aden N, Shiwen X, Aden D, Black C, Nuttall A, Denton CP, et al., Proteomic analysis of scleroderma lesional skin reveals activated wound healing phenotype of epidermal cell layer. Rheumatology (Oxford) 2008; 47: 1754-60.
36. Aden N, Nuttall A, Shiwen X, de Winter P, Leask A, Black CM, et al., Epithelial cells promote fibroblast activation via IL-1α in systemic sclerosis. J Invest Dermatol 2010; 130: 2191-200.
37. Hardy MH., The secret life of the hair follicle. Trends Genet 1992; 8: 55-61.
38. Lo CC, Prowse DM, Watt FM., Transient activation of β-catenin signalling in adult mouse epidermis is sufficient to induce new hair follicles but continuous activation is required to maintain hair follicle tumours. Development 2004; 131: 1787-99.
39. Lowry WE, Blanpain C, Nowak JA, Guasch G, Lewis L, Fuchs E., Defining the impact of β-catenin/Tcf transactivation on epithelial stem cells. Genes Dev 2005; 19: 1596-611.
40. Van Mater D, Kolligs FT, Dlugosz AA, Fearon ER., Transient activation of β-catenin signaling in cutaneous keratinocytes is sufficient to trigger the active growth phase of the hair cycle in mice. Genes Dev 2003; 17: 1219-24.
41. Wei J, Fang F, Lam AP, Sargent JL, Hamburg E, Hinchcliff ME, et al., Wnt/β-catenin signaling is hyperactivated in systemic sclerosis and induces Smad-dependent fibrotic responses in mesenchymal cells. Arthritis Rheum 2012; 64: 2734-45.