Systemic sclerosis: Genetics and epigenetics

Journal of Autoimmunity

Volumn 41, Issue , 2013, Pages 161-167

  Luo, Yangyang ^a   Wang, Yaoyao ^a   Wang, Qing ^a   Xiao, Rong ^a   Lu, Qianjin ^a,b,c  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b Hunan Key Laboratory of Medical Epigenomics   (China)

^c BEIJING UNIVERSITY OF POSTS AND TELECOMMUNICATIONS   (China)

Author keywords

DNA methylation; Epigenetics; Genetics; Genome wide association studies; Histone modifications; MicroRNAs; Systemic sclerosis

Indexed keywords

BIOLOGICAL MARKER; CD40 LIGAND; CD70 ANTIGEN; ENDOTHELIAL NITRIC OXIDE SYNTHASE; MICRORNA;

AUTOIMMUNE DISEASE; DNA MODIFICATION; EARLY DIAGNOSIS; ENVIRONMENTAL FACTOR; EPIGENETICS; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETICS; HUMAN; MEDICAL RESEARCH; OUTCOME ASSESSMENT; PRIORITY JOURNAL; PROGNOSIS; REGULATOR GENE; REVIEW; SYSTEMIC SCLEROSIS;

AUTOIMMUNE DISEASES; EPIGENESIS, GENETIC; GENOME-WIDE ASSOCIATION STUDY; HLA ANTIGENS; HUMANS; MICRORNAS; SCLERODERMA, SYSTEMIC;

EID: 84875953107     PISSN: 08968411     EISSN: 10959157     Source Type: Journal    
DOI: 10.1016/j.jaut.2013.01.012     Document Type: Review

References (82)

1. Pattanaik D., Brown M., Postlethwaite A.E. Vascular involvement in systemic sclerosis (scleroderma). Journal of Inflammation Research 2011, 4:105-125.
2. Kowal-Bielecka O. An update on systemic sclerosis. Annales Academiae Medicae Stetinensis 2010, 56(Suppl. 1):80-82.
3. Nikpour M., Stevens W.M., Herrick A.L., Proudman S.M. Epidemiology of systemic sclerosis. Best Practice and Research Clinical Rheumatology 2010, 24:857-869.
4. Barnes J., Mayes M.D. Epidemiology of systemic sclerosis: incidence, prevalence, survival, risk factors, malignancy, and environmental triggers. Current Opinion in Rheumatology 2012, 24:165-170.
5. Nikpour M., Hissaria P., Byron J., Sahhar J., Micallef M., Paspaliaris W., et al. Prevalence, correlates and clinical usefulness of antibodies to RNA polymerase III in systemic sclerosis: a cross-sectional analysis of data from an Australian cohort. Arthritis Research and Therapy 2011, 13:R211.
6. Brooks W.H., Le Dantec C., Pers J.O., Youinou P., Renaudineau Y. Epigenetics and autoimmunity. Journal of Autoimmunity 2010, 34:J207-J219.
7. Arnett F.C., Cho M., Chatterjee S., Aguilar M.B., Reveille J.D., Mayes M.D. Familial occurrence frequencies and relative risks for systemic sclerosis (scleroderma) in three United States cohorts. Arthritis and Rheumatism 2001, 44:1359-1362.
8. Frech T., Khanna D., Markewitz B., Mineau G., Pimentel R., Sawitzke A. Heritability of vasculopathy, autoimmune disease, and fibrosis in systemic sclerosis: a population-based study. Arthritis and Rheumatism 2010, 62:2109-2116.
9. McNearney T.A., Reveille J.D., Fischbach M., Friedman A.W., Lisse J.R., Goel N., et al. Pulmonary involvement in systemic sclerosis: associations with genetic, serologic, sociodemographic, and behavioral factors. Arthritis and Rheumatism 2007, 57:318-326.
10. Greenbaum J., Sidney J., Chung J., Brander C., Peters B., Sette A. Functional classification of class II human leukocyte antigen (HLA) molecules reveals seven different supertypes and a surprising degree of repertoire sharing across supertypes. Immunogenetics 2011, 63:325-335.
11. Favalli E., Ingegnoli F., Zeni S., Fare M., Fantini F. HLA typing in systemic sclerosis. Reumatismo 2001, 53:210-214.
12. Tikly M., Rands A., McHugh N., Wordsworth P., Welsh K. Human leukocyte antigen class II associations with systemic sclerosis in South Africans. Tissue Antigens 2004, 63:487-490.
13. Gladman D.D., Kung T.N., Siannis F., Pellett F., Farewell V.T., Lee P. HLA markers for susceptibility and expression in scleroderma. The Journal of Rheumatology 2005, 32:1481-1487.
14. Loubiere L.S., Lambert N.C., Madeleine M.M., Porter A.J., Mullarkey M.E., Pang J.M., et al. HLA allelic variants encoding DR11 in diffuse and limited systemic sclerosis in Caucasian women. Rheumatology (Oxford) 2005, 44:318-322.
15. Joung C.I., Jun J.B., Chung W.T., Song G.G., Choe J.Y., Chang H.K., et al. Association between the HLA-DRB1 gene and clinical features of systemic sclerosis in Korea. Scandinavian Journal of Rheumatology 2006, 35:39-43.
16. Zhou X., Lee J.E., Arnett F.C., Xiong M., Park M.Y., Yoo Y.K., 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 and Rheumatism 2009, 60:3807-3814.
17. Rak J.M., Pagni P.P., Tiev K., Allanore Y., Farge D., Harle J.R., et al. Male microchimerism and HLA compatibility in French women with sclerodema: a different profile in limited and diffuse subset. Rheumatology (Oxford) 2009, 48:363-366.
18. Azzouz D.F., Rak J.M., Fajardy I., Allanore Y., Tiev K.P., Farge-Bancel D., et al. Comparing HLA shared epitopes in French Caucasian patients with scleroderma. PloS One 2012, 7:e36870.
19. Simeon C.P., Fonollosa V., Tolosa C., Palou E., Selva A., Solans R., et al. Association of HLA class II genes with systemic sclerosis in Spanish patients. The Journal of Rheumatology 2009, 36:2733-2736.
20. Beretta L., Rueda B., Marchini M., Santaniello A., Simeon C.P., Fonollosa V., et al. Analysis of Class II human leucocyte antigens in Italian and Spanish systemic sclerosis. Rheumatology (Oxford) 2012, 51:52-59.
21. Arnett F.C., Gourh P., Shete S., Ahn C.W., Honey R.E., Agarwal S.K., et al. Major histocompatibility complex (MHC) class II alleles, haplotypes and epitopes which confer susceptibility or protection in systemic sclerosis: analyses in 1300 Caucasian, African-American and Hispanic cases and 1000 controls. Annals of the Rheumatic Diseases 2010, 69:822-827.
22. Gorlova O., Martin J.E., Rueda B., Koeleman B.P., 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 Genetics 2011, 7:e1002178.
23. Lenna S., Townsend D.M., Tan F.K., Kapanadze B., Markiewicz M., Trojanowska M., et al. HLA-B35 upregulates endothelin-1 and downregulates endothelial nitric oxide synthase via endoplasmic reticulum stress response in endothelial cells. Journal of Immunology (Baltimore, Md: 1950) 2010, 184:4654-4661.
24. Santaniello A., Salazar G., Lenna S., Antonioli R., Colombo G., Beretta L., et al. HLA-B35 upregulates the production of endothelin-1 in HLA-transfected cells: a possible pathogenetic role in pulmonary hypertension. Tissue Antigens 2006, 68:239-244.
25. Nguyen B., Mayes M.D., Arnett F.C., del Junco D., Reveille J.D., Gonzalez E.B., et al. HLA-DRB1*0407 and *1304 are risk factors for scleroderma renal crisis. Arthritis and Rheumatism 2011, 63:530-534.
26. Wastowski I.J., Sampaio-Barros P.D., Amstalden E.M., Palomino G.M., Marques-Neto J.F., Crispim J.C., et al. HLA-G expression in the skin of patients with systemic sclerosis. The Journal of Rheumatology 2009, 36:1230-1234.
27. Odani T., Yasuda S., Ota Y., Fujieda Y., Kon Y., Horita T., et al. Up-regulated expression of HLA-DRB5 transcripts and high frequency of the HLA-DRB5*01:05 allele in scleroderma patients with interstitial lung disease. Rheumatology (Oxford) 2012, 51:1765-1774.
28. Agarwal S.K., Reveille J.D. The genetics of scleroderma (systemic sclerosis). Current Opinion in Rheumatology 2010, 22:133-138.
29. Broen J.C., Coenen M.J., Radstake T.R. Genetics of systemic sclerosis: an update. Current Rheumatology Reports 2012, 14:11-21.
30. Wu M., Schneider D.J., Mayes M.D., Assassi S., Arnett F.C., Tan F.K., et al. Osteopontin in systemic sclerosis and its role in dermal fibrosis. The Journal of Investigative Dermatology 2012, 132:1605-1614.
31. Barizzone N., Marchini M., Cappiello F., Chiocchetti A., Orilieri E., Ferrante D., et al. Association of osteopontin regulatory polymorphisms with systemic sclerosis. Human Immunology 2011, 72:930-934.
32. Allanore Y., Saad M., Dieude P., Avouac J., Distler J.H., Amouyel P., et al. Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. PLoS Genetics 2011, 7:e1002091.
33. Bossini-Castillo L., Martin J.E., Broen J., Simeon C.P., Beretta L., Gorlova O.Y., et al. Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study. Annals of the Rheumatic Diseases Aug 15, 2012, [Epub ahead of print].
34. Bossini-Castillo L., Simeon C.P., Beretta L., Vonk M.C., Callejas-Rubio J.L., Espinosa G., 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.
35. Broen J.C., Bossini-Castillo L., van Bon L., Vonk M.C., Knaapen H., Beretta 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 and Rheumatism 2012, 64:264-271.
36. Carmona F.D., Gutala R., Simeon C.P., Carreira P., Ortego-Centeno N., Vicente-Rabaneda E., et al. Novel identification of the IRF7 region as an anticentromere autoantibody propensity locus in systemic sclerosis. Annals of the Rheumatic Diseases 2012, 71:114-119.
37. Martin J.E., Carmona F.D., Broen J.C., Simeon C.P., Vonk M.C., Carreira P., et al. The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis. Genes and Immunity 2012, 13:191-196.
38. Matsushita T., Hasegawa M., Hamaguchi Y., Takehara K., Sato S. Longitudinal analysis of serum cytokine concentrations in systemic sclerosis: association of interleukin 12 elevation with spontaneous regression of skin sclerosis. The Journal of Rheumatology 2006, 33:275-284.
39. Bossini-Castillo L., Martin J.E., Broen J., Gorlova O., Simeon C.P., Beretta L., et al. A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations. Human Molecular Genetics 2012, 21:926-933.
40. Del Galdo F., Sotgia F., de Almeida C.J., Jasmin J.F., Musick M., Lisanti M.P., et al. Decreased expression of caveolin 1 in patients with systemic sclerosis: crucial role in the pathogenesis of tissue fibrosis. Arthritis and Rheumatism 2008, 58:2854-2865.
41. Manetti M., Allanore Y., Saad M., Fatini C., Cohignac V., Guiducci S., et al. Evidence for caveolin-1 as a new susceptibility gene regulating tissue fibrosis in systemic sclerosis. Annals of the Rheumatic Diseases 2012, 71:1034-1041.
42. Feghali-Bostwick C., Medsger T.A., Wright T.M. Analysis of systemic sclerosis in twins reveals low concordance for disease and high concordance for the presence of antinuclear antibodies. Arthritis and Rheumatism 2003, 48:1956-1963.
43. Selmi C., Lu Q., Humble M.C. Heritability versus the role of the environment in autoimmunity. Journal of Autoimmunity 2012, 39:249-252.
44. Germolec D., Kono D.H., Pfau J.C., Pollard K.M. Animal models used to examine the role of the environment in the development of autoimmune disease: findings from an NIEHS Expert Panel Workshop. Journal of Autoimmunity 2012, 39:285-293.
45. Miller F.W., Pollard K.M., Parks C.G., Germolec D.R., Leung P.S., Selmi C., et al. Criteria for environmentally associated autoimmune diseases. Journal of Autoimmunity 2012, 39:253-258.
46. Miller F.W., Alfredsson L., Costenbader K.H., Kamen D.L., Nelson L.M., Norris J.M., et al. Epidemiology of environmental exposures and human autoimmune diseases: findings from a National Institute of Environmental Health Sciences Expert Panel Workshop. Journal of Autoimmunity 2012, 39:259-271.
47. Ngalamika O., Zhang Y., Yin H., Zhao M., Gershwin M.E., Lu Q. Epigenetics, autoimmunity and hematologic malignancies: a comprehensive review. Journal of Autoimmunity 2012, 39:451-465.
48. Selmi C., Leung P.S., Sherr D.H., Diaz M., Nyland J.F., Monestier M., et al. Mechanisms of environmental influence on human autoimmunity: a national institute of environmental health sciences expert panel workshop. Journal of Autoimmunity 2012, 39:272-284.
49. Jungel A., Distler J.H., Gay S., Distler O. Epigenetic modifications: novel therapeutic strategies for systemic sclerosis?. Expert Review of Clinical Immunology 2011, 7:475-480.
50. Quintero-Ronderos P., Montoya-Ortiz G. Epigenetics and autoimmune diseases. Autoimmune Diseases 2012, 2012:593720.
51. Huang K., Fan G. DNA methylation in cell differentiation and reprogramming: an emerging systematic view. Regenerative Medicine 2010, 5:531-544.
52. Fan S., Zhang X. CpG island methylation pattern in different human tissues and its correlation with gene expression. Biochemical and Biophysical Research Communications 2009, 383:421-425.
53. Yun M., Wu J., Workman J.L., Li B. Readers of histone modifications. Cell Research 2011, 21:564-578.
54. de Ruijter A.J., van Gennip A.H., Caron H.N., Kemp S., van Kuilenburg A.B. Histone deacetylases (HDACs): characterization of the classical HDAC family. The Biochemical Journal 2003, 370:737-749.
55. Bannister A.J., Kouzarides T. Regulation of chromatin by histone modifications. Cell Research 2011, 21:381-395.
56. Scaria V., Hariharan M., Maiti S., Pillai B., Brahmachari S.K. Host-virus interaction: a new role for microRNAs. Retrovirology 2006, 3:68.
57. Bartel D.P. MicroRNAs: genomics, biogenesis, mechanism, and function. Cell 2004, 116:281-297.
58. Castro S.V., Jimenez S.A. Biomarkers in systemic sclerosis. Biomarkers in Medicine 2010, 4:133-147.
59. Varga J. Systemic sclerosis: an update. Bulletin of the NYU Hospital for Joint Diseases 2008, 66:198-202.
60. Miranda T.B., Jones P.A. DNA methylation: the nuts and bolts of repression. Journal of Cellular Physiology 2007, 213:384-390.
61. Fish J.E., Marsden P.A. Endothelial nitric oxide synthase: insight into cell-specific gene regulation in the vascular endothelium. Cellular and Molecular Life Sciences: CMLS 2006, 63:144-162.
62. Romero L.I., Zhang D.N., Cooke J.P., Ho H.K., Avalos E., Herrera R., et al. Differential expression of nitric oxide by dermal microvascular endothelial cells from patients with scleroderma. Vascular Medicine 2000, 5:147-158.
63. Matouk C.C., Marsden P.A. Epigenetic regulation of vascular endothelial gene expression. Circulation Research 2008, 102:873-887.
64. Kahaleh B., Wang W., Moore T., Murray A., Richards H., Ennis H., et al. SS.1.1 Decrease activity of DNA demethylase in SSC fibroblast and microvascular endothelial cells: a possible mechanism for persistent SSC phenotype. Rheumatology 2012, 51:ii5-ii6.
65. Lei W., Luo Y., Yan K., Zhao S., Li Y., Qiu X., et al. Abnormal DNA methylation in CD4+ T cells from patients with systemic lupus erythematosus, systemic sclerosis, and dermatomyositis. Scandinavian Journal of Rheumatology 2009, 38:369-374.
66. Lian X., Xiao R., Hu X., Kanekura T., Jiang H., Li Y., et al. DNA demethylation of CD40l in CD4+ T cells from women with systemic sclerosis: a possible explanation for female susceptibility. Arthritis and Rheumatism 2012, 64:2338-2345.
67. Jiang H., Xiao R., Lian X., Kanekura T., Luo Y., Yin Y., et al. Demethylation of TNFSF7 contributes to CD70 overexpression in CD4+ T cells from patients with systemic sclerosis. Clinical Immunology 2012, 143:39-44.
68. Czuwara-Ladykowska J., Shirasaki F., Jackers P., Watson D.K., Trojanowska M. Fli-1 inhibits collagen type I production in dermal fibroblasts via an Sp1-dependent pathway. The Journal of Biological Chemistry 2001, 276:20839-20848.
69. Wang Y., Fan P.S., Kahaleh B. Association between enhanced type I collagen expression and epigenetic repression of the FLI1 gene in scleroderma fibroblasts. Arthritis and Rheumatism 2006, 54:2271-2279.
70. Kuwatsuka Y., Ogawa F., Iwata Y., Komura K., Muroi E., Hara T., et al. Decreased levels of autoantibody against histone deacetylase 3 in patients with systemic sclerosis. Autoimmunity 2009, 42:120-125.
71. Yan M.S., Matouk C.C., Marsden P.A. Epigenetics of the vascular endothelium. Journal of Applied Physiology 2010, 109:916-926.
72. Hemmatazad H., Rodrigues H.M., Maurer B., Brentano F., Pileckyte M., Distler J.H., et al. Histone deacetylase 7, a potential target for the antifibrotic treatment of systemic sclerosis. Arthritis and Rheumatism 2009, 60:1519-1529.
73. Huber L.C., Distler J.H., Moritz F., Hemmatazad H., Hauser T., Michel B.A., et al. Trichostatin A prevents the accumulation of extracellular matrix in a mouse model of bleomycin-induced skin fibrosis. Arthritis and Rheumatism 2007, 56:2755-2764.
74. Li H., Yang R., Fan X., Gu T., Zhao Z., Chang D., et al. MicroRNA array analysis of microRNAs related to systemic scleroderma. Rheumatology International 2012, 32:307-313.
75. Zhu H., Li Y., Qu S., Luo H., Zhou Y., Wang Y., et al. MicroRNA expression abnormalities in limited cutaneous scleroderma and diffuse cutaneous scleroderma. Journal of Clinical Immunology 2012, 32:514-522.
76. Maurer B., Stanczyk J., Jungel A., Akhmetshina A., Trenkmann M., Brock M., et al. MicroRNA-29, a key regulator of collagen expression in systemic sclerosis. Arthritis and Rheumatism 2010, 62:1733-1743.
77. Makino K., Jinnin M., Aoi J., Hirano A., Kajihara I., Makino T., et al. Discoidin domain receptor 2-microRNA 196a-mediated negative feedback against excess type I collagen expression is impaired in scleroderma dermal fibroblasts. The Journal of Investigative Dermatology 2012, 133(1):110-119.
78. Honda N., Jinnin M., Kajihara I., Makino T., Makino K., Masuguchi S., et al. TGF-beta-mediated downregulation of microRNA-196a contributes to the constitutive upregulated type I collagen expression in scleroderma dermal fibroblasts. Journal of Immunology (Baltimore, Md: 1950) 2012, 188:3323-3331.
79. Kajihara I., Jinnin M., Yamane K., Makino T., Honda N., Igata T., et al. Increased accumulation of extracellular thrombospondin-2 due to low degradation activity stimulates type I collagen expression in scleroderma fibroblasts. The American Journal of Pathology 2012, 180:703-714.
80. Makino K., Jinnin M., Kajihara I., Honda N., Sakai K., Masuguchi S., et al. Circulating miR-142-3p levels in patients with systemic sclerosis. Clinical and Experimental Dermatology 2012, 37:34-39.
81. Sing T., Jinnin M., Yamane K., Honda N., Makino K., Kajihara I., et al. microRNA-92a expression in the sera and dermal fibroblasts increases in patients with scleroderma. Rheumatology (Oxford) 2012, 51:1550-1556.
82. Nakashima T., Jinnin M., Yamane K., Honda N., Kajihara I., Makino T., et al. Impaired IL-17 signaling pathway contributes to the increased collagen expression in scleroderma fibroblasts. Journal of Immunology (Baltimore, Md: 1950) 2012, 188:3573-3583.