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大学・研究所にある論文を検索できる 「FLI1遺伝子マイクロサテライト多型と全身性強皮症との関連の検討」の論文概要。リケラボ論文検索は、全国の大学リポジトリにある学位論文・教授論文を一括検索できる論文検索サービスです。

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FLI1遺伝子マイクロサテライト多型と全身性強皮症との関連の検討

山下, 計太 筑波大学 DOI:10.15068/0002005590

2022.11.22

概要

膠原病は1942年病理学者Klempererによって提唱された病理的概念である[Klemperer et al., 1942]。関節や結合組織などのさまざまな臓器に炎症や壊死(フィブリノイド変性)を引き起こす病態を呈する。全身性強皮症(systemic sclerosis:SSc)は、皮膚や肺、心、腎、消化器系を主とした内臓に対し、炎症・硬化などを引き起こす慢性疾患であり、全身性エリテマトーデス(systemic lupus erythematosus:SLE)や関節リウマチ(rheumatoid arthritis:RA)、多発性筋炎(polymyositis:PM)、皮膚筋炎(dermatomyositis:DM)等と同様、全身性自己免疫疾患として分類される。本邦での患者数は推定25,000人、男女比は1:7程度と女性に性差を認め、好発年齢は30-50代と言われている。病因は未だ解明に至らず、根本的な治療法は確立していない。以上の背景より、厚生労働省の特定疾患治療研究事業対象疾患として、病因解明と根本的治療法の確立の研究成果が望まれている。

 SScの病態は、1)皮膚硬化、肺線維症などの膠原線維の増生、2)レイノー症状、肺高血圧症、腎クリ―ゼなどの血管病変、3)Bリンパ球の活性化による抗トポイソメラーゼI抗体(anti-topoisomerase I antibody:ATA)、抗セントロメア抗体(anti-centromere antibody:ACA)などの自己抗体産生の3つの主要病態の複雑な構成から成り立っている。さらに、SScには主に2つの病型があり、皮膚硬化が肘関節よりも近位に及ぶ場合は、びまん皮膚硬化型(diffuse cutaneous SSc:dcSSc)、皮膚硬化が肘関節より遠位にとどまる場合は、限局皮膚硬化型(limited cutaneous SSc:lcSSc)の病型に分類される[LeRoy et al., 1988]。日本のSSc患者の約30%にATAが検出され、ATA陽性SSc患者には広範囲な皮膚硬化、末梢循環障害、間質性肺炎(SSc-interstitial lung disease:ILD)の合併が臨床的特徴として挙げられ、重篤になることが多い。一方、ACAも日本のSSc患者の約30%に検出されるが、臨床的特徴としてILDや腎クリ―ゼなど病態を合併することは少なく生命予後は比較的よい。しかしながら、しばしば発症後に肺高血圧症(SSc-pulmonary hypertension:PH)を合併し、急激に生命予後が悪くなることがある[Steen et al., 2007]。

 以上より、多彩で複雑な病態を表すSScは、病態の発生機序や因果関係が不明な点が多く、3つの主要病態を一元的に説明できる病態仮説もこれまで確立されていなかった。

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参考文献

Akamata K, Asano Y, Aozasa N, Noda S, Taniguchi T, Takahashi T, Ichimura Y, Toyama T, Sato S. Bosentan reverses the pro-fibrotic phenotype of systemic sclerosis dermal fibroblasts via increasing DNA binding ability of transcription factor Fli1. Arthritis Res Ther. 2014 Apr 3;16(2):R86. doi: 10.1186/ar4529. PMID: 24708674; PMCID: PMC4060196.

Allanore Y, Saad M, Dieudé P, Avouac J, Distler JH, Amouyel P, Matucci- Cerinic M, Riemekasten G, Airo P, Melchers I, Hachulla E, Cusi D, Wichmann HE, Wipff J, Lambert JC, Hunzelmann N, Tiev K, Caramaschi P, Diot E, Kowal-Bielecka O, Valentini G, Mouthon L, Czirják L, Damjanov N, Salvi E, Conti C, Müller M, Müller-Ladner U, Riccieri V, Ruiz B, Cracowski JL, Letenneur L, Dupuy AM, Meyer O, Kahan A, Munnich A, Boileau C, Martinez M. Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. PLoS Genet. 2011 Jul;7(7):e1002091. doi:10.1371/journal.pgen.1002091. Epub 2011 Jul 7. PMID: 21750679; PMCID: PMC3131285.

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 Jun;44(6):1359-62. doi:10.1002/1529-0131(200106)44:6<1359:AID-ART228>3.0.CO;2-S. PMID: 11407695.

Arnett FC, Gourh P, Shete S, Ahn CW, Honey RE, Agarwal SK, Tan FK, McNearney T, Fischbach M, Fritzler MJ, Mayes MD, Reveille JD. 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. Ann Rheum Dis. 2010 May;69(5):822-7. doi: 10.1136/ard.2009.111906. Epub 2009 Jul 12. Erratum in: Ann Rheum Dis. 2011 May;70(5):880. PMID: 19596691; PMCID: PMC2916702.

Asano Y, Czuwara J, Trojanowska M. Transforming growth factor-beta regulates DNA binding activity of transcription factor Fli1 by p300/CREB- binding protein-associated factor-dependent acetylation. J Biol Chem. 2007 Nov 30;282(48):34672-83. doi: 10.1074/jbc.M703907200. Epub 2007 Sep 19. PMID: 17884818.

Asano Y, Trojanowska M. Phosphorylation of Fli1 at threonine 312 by protein kinase C delta promotes its interaction with p300/CREB-binding protein-associated factor and subsequent acetylation in response to transforming growth factor beta. Mol Cell Biol. 2009 Apr;29(7):1882-94. doi: 10.1128/MCB.01320-08. Epub 2009 Jan 21. PMID: 19158279; PMCID: PMC2655609.

Asano Y, Stawski L, Hant F, Highland K, Silver R, Szalai G, Watson DK, Trojanowska M. Endothelial Fli1 deficiency impairs vascular homeostasis: a role in scleroderma vasculopathy. Am J Pathol. 2010 Apr;176(4):1983-98. doi: 10.2353/ajpath.2010.090593. Epub 2010 Mar 12. PMID: 20228226; PMCID: PMC2843486.

Asano Y, Bujor AM, Trojanowska M. The impact of Fli1 deficiency on the pathogenesis of systemic sclerosis. J Dermatol Sci. 2010 Sep;59(3):153-62. doi: 10.1016/j.jdermsci.2010.06.008. Epub 2010 Jul 3. PMID: 20663647; PMCID: PMC3826615.

Asano Y. Systemic sclerosis. J Dermatol. 2018 Feb;45(2):128-38. doi: 10.1111/1346-8138.14153. Epub 2017 Dec 10. PMID: 29226387.

Asano Y, Jinnin M, Kawaguchi Y, Kuwana M, Goto D, Sato S, Takehara K, Hatano M, Fujimoto M, Mugii N, Ihn H. Diagnostic criteria, severity classification and guidelines of systemic sclerosis. J Dermatol. 2018 Jun;45(6):633-91. doi: 10.1111/1346-8138.14162. Epub 2018 Apr 23. PMID: 29687465.

Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005 Jan 15;21(2):263-5. doi: 10.1093/bioinformatics/bth457. Epub 2004 Aug 5. PMID: 15297300.

Bossini-Castillo L, López-Isac E, Martín J. Immunogenetics of systemic sclerosis: Defining heritability, functional variants and shared- autoimmunity pathways. J Autoimmun. 2015 Nov;64:53-65. doi: 10.1016/j.jaut.2015.07.005. Epub 2015 Jul 23. PMID: 26212856.

Buggy Y, Maguire TM, McGreal G, McDermott E, Hill AD, O'Higgins N, Duffy MJ. Overexpression of the Ets-1 transcription factor in human breast cancer. Br J Cancer. 2004 Oct 4;91(7):1308-15. doi: 10.1038/sj.bjc.6602128. PMID: 15365563; PMCID: PMC2409905.

Bujor AM, Asano Y, Haines P, Lafyatis R, Trojanowska M. The c-Abl tyrosine kinase controls protein kinase Cδ-induced Fli-1 phosphorylation in human dermal fibroblasts. Arthritis Rheum. 2011 Jun;63(6):1729-37. doi: 10.1002/art.30284. PMID: 21321929; PMCID: PMC3381734.

Castellucci L, Jamieson SE, Miller EN, de Almeida LF, Oliveira J, Magalhães A, Guimarães LH, Lessa M, Lago E, de Jesus AR, Carvalho EM, Blackwell JM. FLI1 polymorphism affects susceptibility to cutaneous leishmaniasis in Brazil. Genes Immun. 2011 Oct;12(7):589-94. doi: 10.1038/gene.2011.37. Epub 2011 Jun 2. PMID: 21633373; PMCID: PMC3297968.

Chen S, Wen X, Li L, Li J, Li Y, Wang Q, Yuan H, Zhang F, Li Y. Single nucleotide polymorphisms in the ETS1 gene are associated with idiopathic inflammatory myopathies in a northern Chinese Han population. Sci Rep. 2017 Oct 13;7(1):13128. doi: 10.1038/s41598-017-13385-1. PMID: 29030598; PMCID: PMC5640673.

Clements PJ, Lachenbruch PA, Seibold JR, Zee B, Steen VD, Brennan P, Silman AJ, Allegar N, Varga J, Massa M, et al. Skin thickness score in systemic sclerosis: an assessment of interobserver variability in 3 independent studies. J Rheumatol. 1993 Nov;20(11):1892-6. PMID: 8308774.

Czuwara-Ladykowska J, Shirasaki F, Jackers P, Watson DK, Trojanowska M. Fli-1 inhibits collagen type I production in dermal fibroblasts via an Sp1-dependent pathway. J Biol Chem. 2001 Jun 15;276(24):20839-48. doi: 10.1074/jbc.M010133200. Epub 2001 Mar 16. PMID: 11278621.

Dittmer J. The role of the transcription factor Ets1 in carcinoma. Semin Cancer Biol. 2015 Dec;35:20-38. doi: 10.1016/j.semcancer.2015.09.010. Epub 2015 Sep 25. PMID: 26392377.

Fagerberg L, Hallström BM, Oksvold P, Kampf C, Djureinovic D, Odeberg J, Habuka M, Tahmasebpoor S, Danielsson A, Edlund K, Asplund A, Sjöstedt E, Lundberg E, Szigyarto CA, Skogs M, Takanen JO, Berling H, Tegel H, Mulder J, Nilsson P, Schwenk JM, Lindskog C, Danielsson F, Mardinoglu A, Sivertsson Å, von Feilitzen K, Forsberg M, Zwahlen M, Olsson I, Navani S, Huss M, Nielsen J, Ponten F, Uhlén M. Analysis of the human tissue-specific xxpression by genome-wide integration of transcriptomics and antibody-based proteomics. Mol Cell Proteomics. 2014 Feb;13(2):397-406. doi: 10.1074/mcp.M113.035600. Epub 2020 Oct 1. PMID: 33498127.

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 Jul;48(7):1956-63. doi: 10.1002/art.11173. PMID: 12847690.

Freudenberg J, Lee HS, Han BG, Shin HD, Kang YM, Sung YK, Shim SC, Choi CB, Lee AT, Gregersen PK, Bae SC. Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci. Arthritis Rheum. 2011 Apr;63(4):884-93. doi: 10.1002/art.30235. PMID: 21452313.

Garrett-Sinha LA, Kearly A, Satterthwaite AB. The Role of the Transcription Factor Ets1 in Lupus and Other Autoimmune Diseases. Crit Rev Immunol. 2016;36(6):485-510. doi: 10.1615/CritRevImmunol.2017020284. PMID: 28845756; PMCID: PMC5695541.

Han JW, Zheng HF, Cui Y, Sun LD, Ye DQ, Hu Z, Xu JH, Cai ZM, Huang W, Zhao GP, Xie HF, Fang H, Lu QJ, Xu JH, Li XP, Pan YF, Deng DQ, Zeng FQ, Ye ZZ, Zhang XY, Wang QW, Hao F, Ma L, Zuo XB, Zhou FS, Du WH, Cheng YL, Yang JQ, Shen SK, Li J, Sheng YJ, Zuo XX, Zhu WF, Gao F, Zhang PL, Guo Q, Li B, Gao M, Xiao FL, Quan C, Zhang C, Zhang Z, Zhu KJ, Li Y, Hu DY, Lu WS, Huang JL, Liu SX, Li H, Ren YQ, Wang ZX, Yang CJ, Wang PG, Zhou WM, Lv YM, Zhang AP, Zhang SQ, Lin D, Li Y, Low HQ, Shen M, Zhai ZF, Wang Y, Zhang FY, Yang S, Liu JJ, Zhang XJ. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. Nat Genet. 2009 Nov;41(11):1234-7. doi: 10.1038/ng.472. Epub 2009 Oct 18. PMID: 19838193.

Hasebe N, Kawasaki A, Ito I, Kawamoto M, Hasegawa M, Fujimoto M, Furukawa H, Tohma S, Sumida T, Takehara K, Sato S, Kawaguchi Y, Tsuchiya N. Association of UBE2L3 polymorphisms with diffuse cutaneous systemic sclerosis in a Japanese population. Ann Rheum Dis. 2012 Jul;71(7):1259-60. doi: 10.1136/annrheumdis-2011-201091. Epub 2012 Jan 30. PMID: 22294623.

He D, Wang J, Yi L, Guo X, Guo S, Guo G, Tu W, Wu W, Yang L, Xiao R, Li Y, Chu H, Lai S, Jin L, Zou H, Reveille JD, Assassi S, Mayes MD, Zhou X. Association of the HLA-DRB1 with scleroderma in Chinese population. PLoS One. 2014 Sep 3;9(9):e106939. doi: 10.1371/journal.pone.0106939. PMID: 25184637; PMCID: PMC4153724.

Hikami K, Kawasaki A, Ito I, Koga M, Ito S, Hayashi T, Matsumoto I, Tsutsumi A, Kusaoi M, Takasaki Y, Hashimoto H, Arinami T, Sumida T, Tsuchiya N. Association of a functional polymorphism in the 3'- untranslated region of SPI1 with systemic lupus erythematosus. Arthritis Rheum. 2011 Mar;63(3):755-63. doi: 10.1002/art.30188. PMID: 21360505.

Hitomi Y, Tsuchiya N, Hasegawa M, Fujimoto M, Takehara K, Tokunaga K, Sato S. Association of CD22 gene polymorphism with susceptibility to limited cutaneous systemic sclerosis. Tissue Antigens. 2007 Mar;69(3):242-9. doi: 10.1111/j.1399-0039.2007.00801.x. PMID: 17493148.

Hollenhorst PC, Jones DA, Graves BJ. Expression profiles frame the promoter specificity dilemma of the ETS family of transcription factors. Nucleic Acids Res. 2004 Oct 21;32(18):5693-702. doi: 10.1093/nar/gkh906. PMID: 15498926; PMCID: PMC524310.

Johnson PC, Haydon DT. Maximum-likelihood estimation of allelic dropout and false allele error rates from microsatellite genotypes in the absence of reference data. Genetics. 2007 Feb;175(2):827-42. doi: 10.1534/genetics.106.064618. Epub 2006 Dec 18. PMID: 17179070; PMCID: PMC1800638.

Kanda Y. Investigation of the freely available easy-to-use software 'EZR' for medical statistics. Bone Marrow Transplant. 2013 Mar;48(3):452-8. doi: 10.1038/bmt.2012.244. Epub 2012 Dec 3. PMID: 23208313; PMCID: PMC3590441.

Kawasaki A, Yamashita K, Hirano F, Sada KE, Tsukui D, Kondo Y, Kimura Y, Asako K, Kobayashi S, Yamada H, Furukawa H, Nagasaka K, Sugihara T, Yamagata K, Sumida T, Tohma S, Kono H, Ozaki S, Matsuo S, Hashimoto H, Makino H, Arimura Y, Harigai M, Tsuchiya N. Association of ETS1 polymorphism with granulomatosis with polyangiitis and proteinase 3-anti-neutrophil cytoplasmic antibody positive vasculitis in a Japanese population. J Hum Genet. 2018 Jan;63(1):55-62. doi: 10.1038/s10038-017-0362-2. Epub 2017 Oct 5. PMID: 29167552.

Khanna D, Furst DE, Clements PJ, Allanore Y, Baron M, Czirjak L, Distler O, Foeldvari I, Kuwana M, Matucci-Cerinic M, Mayes M, Medsger T Jr, Merkel PA, Pope JE, Seibold JR, Steen V, Stevens W, Denton CP. Standardization of the modified Rodnan skin score for use in clinical trials of systemic sclerosis. J Scleroderma Relat Disord. 2017 Jan-Apr;2(1):11-8. doi: 10.5301/jsrd.5000231. PMID: 28516167; PMCID: PMC5431585.

Kimpara T, Takeda A, Watanabe K, Itoyama Y, Ikawa S, Watanabe M, Arai H, Sasaki H, Higuchi S, Okita N, Takase S, Saito H, Takahashi K, Shibahara S. Microsatellite polymorphism in the human heme oxygenase- 1 gene promoter and its application in association studies with Alzheimer and Parkinson disease. Hum Genet. 1997 Jul;100(1):145-7. doi: 10.1007/s004390050480. PMID: 9225984.

Klemperer P, Pollack A, Baehr G. Diffuse collagen disease-Acute disseminated lupus erythematosus and diffuse scleroderma. JAMA. 1942 May;119(4): 331-2. doi:10.1001/jama.1942.02830210023006

Køllgaard T, Kornblit B, Petersen J, Klausen TW, Mortensen BK, Brændstrup P, Sengeløv H, Høgdall E, Müller K, Vindeløv L, Andersen MH, Thor Straten P. (GT)n Repeat Polymorphism in Heme Oxygenase-1 (HO-1) Correlates with Clinical Outcome after Myeloablative or Nonmyeloablative Allogeneic Hematopoietic Cell Transplantation. PLoS One. 2016 Dec 20;11(12):e0168210. doi: 10.1371/journal.pone.0168210. PMID: 27997582; PMCID: PMC5172582.

Kudo H, Jinnin M, Asano Y, Trojanowska M, Nakayama W, Inoue K, Honda N, Kajihara I, Makino K, Fukushima S, Ihn H. Decreased interleukin-20 expression in scleroderma skin contributes to cutaneous fibrosis. Arthritis Rheumatol. 2014 Jun;66(6):1636-47. doi: 10.1002/art.38380. PMID: 24470401; PMCID: PMC4123870.

Kubo M, Czuwara-Ladykowska J, Moussa O, Markiewicz M, Smith E, Silver RM, Jablonska S, Blaszczyk M, Watson DK, Trojanowska M. Persistent down-regulation of Fli1, a suppressor of collagen transcription, in fibrotic scleroderma skin. Am J Pathol. 2003 Aug;163(2):571-81. doi: 10.1016/S0002-9440(10)63685-1. PMID: 12875977; PMCID: PMC1868228.

Kuwana M, Inoko H, Kameda H, Nojima T, Sato S, Nakamura K, Ogasawara T, Hirakata M, Ohosone Y, Kaburaki J, Okano Y, Mimori T. Association of human leukocyte antigen class II genes with autoantibody profiles, but not with disease susceptibility in Japanese patients with systemic sclerosis. Intern Med. 1999 Apr;38(4):336-44. doi: 10.2169/internalmedicine.38.336. PMID: 10361906.

LeRoy EC, Black C, Fleischmajer R, Jablonska S, Krieg T, Medsger TA Jr, Rowell N, Wollheim F. Scleroderma (systemic sclerosis): classification, subsets and pathogenesis. J Rheumatol. 1988 Feb;15(2):202-5. PMID: 3361530.

Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM. Finding the missing heritability of complex diseases. Nature. 2009 Oct 8;461(7265):747-53. doi: 10.1038/nature08494. PMID: 19812666; PMCID: PMC2831613.

Mayes MD, Bossini-Castillo L, Gorlova O, Martin JE, Zhou X, Chen WV, Assassi S, Ying J, Tan FK, Arnett FC, Reveille JD, Guerra S, Teruel M, Carmona FD, Gregersen PK, Lee AT, López-Isac E, Ochoa E, Carreira P, Simeón CP, Castellví I, González-Gay MÁ; Spanish Scleroderma Group, Zhernakova A, Padyukov L, Alarcón-Riquelme M, Wijmenga C, Brown M, Beretta L, Riemekasten G, Witte T, Hunzelmann N, Kreuter A, Distler JH, Voskuyl AE, Schuerwegh AJ, Hesselstrand R, Nordin A, Airó P, Lunardi C, Shiels P, van Laar JM, Herrick A, Worthington J, Denton C, Wigley FM, Hummers LK, Varga J, Hinchcliff ME, Baron M, Hudson M, Pope JE, Furst DE, Khanna D, Phillips K, Schiopu E, Segal BM, Molitor JA, Silver RM, Steen VD, Simms RW, Lafyatis RA, Fessler BJ, Frech TM, Alkassab F, Docherty P, Kaminska E, Khalidi N, Jones HN, Markland J, Robinson D, Broen J, Radstake TR, Fonseca C, Koeleman BP, Martin J. Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis. Am J Hum Genet. 2014 Jan 2;94(1):47-61. doi: 10.1016/j.ajhg.2013.12.002. PMID: 24387989; PMCID: PMC3882906.

Morris EE, Amria MY, Kistner-Griffin E, Svenson JL, Kamen DL, Gilkeson GS, Nowling TK. A GA microsatellite in the Fli1 promoter modulates gene expression and is associated with systemic lupus erythematosus patients without nephritis. Arthritis Res Ther. 2010;12(6):R212. doi: 10.1186/ar3189. Epub 2010 Nov 18. PMID: 21087477; PMCID: PMC3046520.

Noda S, Asano Y, Nishimura S, Taniguchi T, Fujiu K, Manabe I, Nakamura K, Yamashita T, Saigusa R, Akamata K, Takahashi T, Ichimura Y, Toyama T, Tsuruta D, Trojanowska M, Nagai R, Sato S. Simultaneous downregulation of KLF5 and Fli1 is a key feature underlying systemic sclerosis. Nat Commun. 2014 Dec 12;5:5797. doi: 10.1038/ncomms6797. PMID: 25504335; PMCID: PMC4268882.

Nowling TK, Fulton JD, Chike-Harris K, Gilkeson GS. Ets factors and a newly identified polymorphism regulate Fli1 promoter activity in lymphocytes. Mol Immunol. 2008 Jan;45(1):1-12. doi: 10.1016/j.molimm.2007.05.018. Epub 2007 Jul 2. PMID: 17606295; PMCID: PMC2045641.

Nunn MF, Seeburg PH, Moscovici C, Duesberg PH. Tripartite structure of the avian erythroblastosis virus E26 transforming gene. Nature. 1983 Nov 24-30;306(5941):391-5. doi: 10.1038/306391a0. PMID: 6316155.

Okano K, Hibi A, Miyaoka T, Inoue T, Sugimoto H, Tsuchiya K, Akiba T, Nitta K. Inhibitory effects of the transcription factor Ets-1 on the expression of type I collagen in TGF-β1-stimulated renal epithelial cells. Mol Cell Biochem. 2012 Oct;369(1-2):247-54. doi: 10.1007/s11010-012- 1388-6. Epub 2012 Jul 25. PMID: 22829018.

Preliminary criteria for the classification of systemic sclerosis (scleroderma). Subcommittee for scleroderma criteria of the American Rheumatism Association Diagnostic and Therapeutic Criteria Committee. Arthritis Rheum. 1980 May;23(5):581-90. doi: 10.1002/art.1780230510. PMID: 7378088.

Qiao H, Sai X, Gai L, Huang G, Chen X, Tu X, Ding Z. Association between heme oxygenase 1 gene promoter polymorphisms and susceptibility to coronary artery disease: a HuGE review and meta-analysis. Am J Epidemiol. 2014 May 1;179(9):1039-48. doi: 10.1093/aje/kwu024. Epub 2014 Mar 26. PMID: 24670375.

Radstake TR, Gorlova O, Rueda B, Martin JE, Alizadeh BZ, Palomino- Morales R, Coenen MJ, Vonk MC, Voskuyl AE, Schuerwegh AJ, Broen JC, van Riel PL, van 't Slot R, Italiaander A, Ophoff RA, Riemekasten G, Hunzelmann N, Simeon CP, Ortego-Centeno N, González-Gay MA, González-Escribano MF; Spanish Scleroderma Group, Airo P, van Laar J, Herrick A, Worthington J, Hesselstrand R, Smith V, de Keyser F, Houssiau F, Chee MM, Madhok R, Shiels P, Westhovens R, Kreuter A, Kiener H, de Baere E, Witte T, Padykov L, Klareskog L, Beretta L, Scorza R, Lie BA, Hoffmann-Vold AM, Carreira P, Varga J, Hinchcliff M, Gregersen PK, Lee AT, Ying J, Han Y, Weng SF, Amos CI, Wigley FM, Hummers L, Nelson JL, Agarwal SK, Assassi S, Gourh P, Tan FK, Koeleman BP, Arnett FC, Martin J, Mayes MD. Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nat Genet. 2010 May;42(5):426-9. doi: 10.1038/ng.565. Epub 2010 Apr 11. PMID: 20383147; PMCID: PMC2861917.

Riggi N, Suvà ML, Stamenkovic I. Ewing's Sarcoma. N Engl J Med. 2021 Jan 14;384(2):154-64. doi: 10.1056/NEJMra2028910. PMID: 33497548.

Rousset F. genepop'007: a complete re-implementation of the genepop software for Windows and Linux. Mol Ecol Resour. 2008 Jan;8(1):103-6. doi: 10.1111/j.1471-8286.2007.01931.x. PMID: 21585727.

Saigusa R, Asano Y, Nakamura K, Hirabayashi M, Miura S, Yamashita T, Taniguchi T, Ichimura Y, Takahashi T, Yoshizaki A, Miyagaki T, Sugaya M, Sato S. Systemic Sclerosis Dermal Fibroblasts Suppress Th1 Cytokine Production via Galectin-9 Overproduction due to Fli1 Deficiency. J Invest Dermatol. 2017 Sep;137(9):1850-9. doi: 10.1016/j.jid.2017.04.035. Epub 2017 May 18. PMID: 28528914.

Saigusa R, Asano Y, Taniguchi T, Hirabayashi M, Nakamura K, Miura S, Yamashita T, Takahashi T, Ichimura Y, Toyama T, Yoshizaki A, Trojanowska M, Sato S. Fli1-haploinsufficient dermal fibroblasts promote skin-localized transdifferentiation of Th2-like regulatory T cells. Arthritis Res Ther. 2018 Feb 7;20(1):23. doi: 10.1186/s13075-018-1521-3. PMID: 29415756; PMCID: PMC5803841.

Shan S, Dang J, Li J, Yang Z, Zhao H, Xin Q, Ma X, Liu Y, Bian X, Gong Y, Liu Q. ETS1 variants confer susceptibility to ankylosing spondylitis in Han Chinese. Arthritis Res Ther. 2014 Apr 4;16(2):R87. doi: 10.1186/ar4530. PMID: 24708692; PMCID: PMC4060494.

Sharrocks AD. The ETS-domain transcription factor family. Nat Rev Mol Cell Biol. 2001 Nov;2(11):827-37. doi: 10.1038/35099076. PMID: 11715049.

Steen VD, Medsger TA. Changes in causes of death in systemic sclerosis, 1972-2002. Ann Rheum Dis. 2007 Jul;66(7):940-4. doi: 10.1136/ard.2006.066068. Epub 2007 Feb 28. PMID: 17329309; PMCID: PMC1955114.

Takahashi T, Asano Y, Sugawara K, Yamashita T, Nakamura K, Saigusa R, Ichimura Y, Toyama T, Taniguchi T, Akamata K, Noda S, Yoshizaki A, Tsuruta D, Trojanowska M, Sato S. Epithelial Fli1 deficiency drives systemic autoimmunity and fibrosis: Possible roles in scleroderma. J Exp Med. 2017 Apr 3;214(4):1129-51. doi: 10.1084/jem.20160247. Epub 2017 Feb 23. PMID: 28232470; PMCID: PMC5379967.

Taniguchi T, Asano Y, Akamata K, Noda S, Takahashi T, Ichimura Y, Toyama T, Trojanowska M, Sato S. Fibrosis, vascular activation, and immune abnormalities resembling systemic sclerosis in bleomycin-treated Fli-1-haploinsufficient mice. Arthritis Rheumatol. 2015 Feb;67(2):517-26. doi: 10.1002/art.38948. PMID: 25385187; PMCID: PMC4342755.

Taniguchi T, Asano Y, Nakamura K, Yamashita T, Saigusa R, Ichimura Y, Takahashi T, Toyama T, Yoshizaki A, Sato S. Fli1 Deficiency Induces CXCL6 Expression in dermal fibroblasts and Endothelial Cells, Contributing to the Development of Fibrosis and vasculopathy in systemic sclerosis. J Rheumatol. 2017 Aug;44(8):1198-205. doi: 10.3899/jrheum.161092. Epub 2017 May 15. PMID: 28507181.

Taniguchi T, Miyagawa T, Toyama S, Yamashita T, Nakamura K, Saigusa R, Ichimura Y, Takahashi T, Toyama T, Yoshizaki A, Sato S, Asano Y. CXCL13 produced by macrophages due to Fli1 deficiency may contribute to the development of tissue fibrosis, vasculopathy and immune activation in systemic sclerosis. Exp Dermatol. 2018 Sep;27(9):1030-7. doi: 10.1111/exd.13724. Epub 2018 Jul 29. PMID: 29947047.

Terao C, Ohmura K, Kawaguchi Y, Nishimoto T, Kawasaki A, Takehara K, Furukawa H, Kochi Y, Ota Y, Ikari K, Sato S, Tohma S, Yamada R, Yamamoto K, Kubo M, Yamanaka H, Kuwana M, Tsuchiya N, Matsuda F, Mimori T. PLD4 as a novel susceptibility gene for systemic sclerosis in a Japanese population. Arthritis Rheum. 2013 Feb;65(2):472-80. doi: 10.1002/art.37777. PMID: 23124809.

Terao C, Kawaguchi T, Dieude P, Varga J, Kuwana M, Hudson M, Kawaguchi Y, Matucci-Cerinic M, Ohmura K, Riemekasten G, Kawasaki A, Airo P, Horita T, Oka A, Hachulla E, Yoshifuji H, Caramaschi P, Hunzelmann N, Baron M, Atsumi T, Hassoun P, Torii T, Takahashi M, Tabara Y, Shimizu M, Tochimoto A, Ayuzawa N, Yanagida H, Furukawa H, Tohma S, Hasegawa M, Fujimoto M, Ishikawa O, Yamamoto T, Goto D, Asano Y, Jinnin M, Endo H, Takahashi H, Takehara K, Sato S, Ihn H, Raychaudhuri S, Liao K, Gregersen P, Tsuchiya N, Riccieri V, Melchers I, Valentini G, Cauvet A, Martinez M, Mimori T, Matsuda F, Allanore Y. Transethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis. Ann Rheum Dis. 2017 Jun;76(6):1150-8. doi: 10.1136/annrheumdis-2016-210645. Epub 2017 Mar 17. PMID: 28314753; PMCID: PMC6733404.

Toyama T, Asano Y, Miyagawa T, Nakamura K, Hirabayashi M, Yamashita T, Saigusa R, Miura S, Ichimura Y, Takahashi T, Taniguchi T, Yoshizaki A, Sato S. The impact of transcription factor Fli1 deficiency on the regulation of angiogenesis. Exp Dermatol. 2017 Oct;26(10):912-8. doi: 10.1111/exd.13341. Epub 2017 Jul 10. PMID: 28370536.

Tsuchiya N, Kuroki K, Fujimoto M, Murakami Y, Tedder TF, Tokunaga K, Takehara K, Sato S. Association of a functional CD19 polymorphism with susceptibility to systemic sclerosis. Arthritis Rheum. 2004 Dec;50(12):4002-7. doi: 10.1002/art.20674. Erratum in: Arthritis Rheum. 2005 May;52(5):1619. PMID: 15593213.

Tsuchiya N, Kawasaki A. Genetics of systemic sclerosis. In: Takehara K, Kuwana M, Fujimoto M (eds). Systemic Sclerosis. Springer, Tokyo, 2016, pp81-92, doi10.1007/978-4-431-55708-1_5

Wagener FA, Toonen EJ, Wigman L, Fransen J, Creemers MC, Radstake TR, Coenen MJ, Barrera P, van Riel PL, Russel FG. HMOX1 promoter polymorphism modulates the relationship between disease activity and joint damage in rheumatoid arthritis. Arthritis Rheum. 2008 Nov;58(11):3388-93. doi: 10.1002/art.23970. PMID: 18975324.

Wang C, Ahlford A, Järvinen TM, Nordmark G, Eloranta ML, Gunnarsson I, Svenungsson E, Padyukov L, Sturfelt G, Jönsen A, Bengtsson AA, Truedsson L, Eriksson C, Rantapää-Dahlqvist S, Sjöwall C, Julkunen H, Criswell LA, Graham RR, Behrens TW, Kere J, Rönnblom L, Syvänen AC, Sandling JK. Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations. Eur J Hum Genet. 2013 Sep;21(9):994-9. doi: 10.1038/ejhg.2012.277. Epub 2012 Dec 19. PMID: 23249952; PMCID: PMC3746253.

Wang J, Guo X, Yi L, Guo G, Tu W, Wu W, Yang L, Xiao R, Li Y, Chu H, He D, Jin L, Mayes MD, Zou H, Zhou X. Association of HLA-DPB1 with scleroderma and its clinical features in Chinese population. PLoS One. 2014 Jan 31;9(1):e87363. doi: 10.1371/journal.pone.0087363. PMID: 24498086; PMCID: PMC3909094.

Wang Y, Fan PS, Kahaleh B. Association between enhanced type I collagen expression and epigenetic repression of the FLI1 gene in scleroderma fibroblasts. Arthritis Rheum. 2006 Jul;54(7):2271-9. doi: 10.1002/art.21948. PMID: 16802366.

Xing X, Wang SC, Xia W, Zou Y, Shao R, Kwong KY, Yu Z, Zhang S, Miller S, Huang L, Hung MC. The ets protein PEA3 suppresses HER-2/neu overexpression and inhibits tumorigenesis. Nat Med. 2000 Feb;6(2):189- 95. doi: 10.1038/72294. PMID: 10655108.

Yang BS, Hauser CA, Henkel G, Colman MS, Van Beveren C, Stacey KJ, Hume DA, Maki RA, Ostrowski MC. Ras-mediated phosphorylation of a conserved threonine residue enhances the transactivation activities of c- Ets1 and c-Ets2. Mol Cell Biol. 1996 Feb;16(2):538-47. doi: 10.1128/MCB.16.2.538. PMID: 8552081; PMCID: PMC231032.

Yang W, Shen N, Ye DQ, Liu Q, Zhang Y, Qian XX, Hirankarn N, Ying D, Pan HF, Mok CC, Chan TM, Wong RW, Lee KW, Mok MY, Wong SN, Leung AM, Li XP, Avihingsanon Y, Wong CM, Lee TL, Ho MH, Lee PP, Chang YK, Li PH, Li RJ, Zhang L, Wong WH, Ng IO, Lau CS, Sham PC, Lau YL; Asian Lupus Genetics Consortium. Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus. PLoS Genet. 2010 Feb 12;6(2):e1000841. doi: 10.1371/journal.pgen.1000841. PMID: 20169177; PMCID: PMC2820522.

Yamada N, Yamaya M, Okinaga S, Nakayama K, Sekizawa K, Shibahara S, Sasaki H. Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema. Am J Hum Genet. 2000 Jan;66(1):187-95. doi: 10.1086/302729. Erratum in: Am J Hum Genet 2001 Jun;68(6):1542. PMID: 10631150; PMCID: PMC1288325.

Zhou X, Tan FK, Xiong M, Arnett FC, Feghali-Bostwick CA. Monozygotic twins clinically discordant for scleroderma show concordance for fibroblast gene expression profiles. Arthritis Rheum. 2005 Oct;52(10):3305-14. doi: 10.1002/art.21355. PMID: 16200604.

Zhou X, Lee JE, Arnett FC, Xiong M, Park MY, Yoo YK, Shin ES, Reveille JD, Mayes MD, Kim JH, Song R, Choi JY, Park JA, Lee YJ, Lee EY, Song YW, Lee EB. 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 Dec;60(12):3807-14. doi: 10.1002/art.24982. PMID: 19950302; PMCID: PMC2829245.

ISO 15189. Medical laboratories-Particular requirement for quality and competence(臨床検査室-品質と能力に関する特定要求事項). 日本適合性認定協会. 2007

JAB RM300.「認定の基準」についての指針―臨床検査室―. 日本適合性認定協会.2014

玉手英利, 釣賀一二三, 近藤麻実, 山内貴義, 湯浅卓. 環境省環境研究総合推進費終了研究等成果報告書. 財団法人自然環境研究センター, 東京, 2011, pp31-57

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