2012 Fiscal Year Final Research Report
Pioneering Research to Elucidate the Pathogenic Mechanism and Genetic Susceptibility of Stevens Johnson Syndrome/Toxic Epidermal Necrolysis
| Project/Area Number |
22390325
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Ophthalmology
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| Research Institution | Kyoto Prefectural University of Medicine |
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Principal Investigator |
SOTOZONO Chie 京都府立医科大学, 医学(系)研究科(研究院), 講師 (30216585)
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| Co-Investigator(Kenkyū-buntansha) |
TASHIRO Kei 京都府立医科大学, 医学(系)研究科(研究院), 教授 (10263097)
KINOSHITA Shigeru 京都府立医科大学, 医学(系)研究科(研究院), 教授 (30116024)
UETA Mayumi 同志社大学, 生命医科学部, 准教授 (60398386)
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| Project Period (FY) |
2010 – 2012
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| Keywords | Stevens-Johnson 症候群 / 眼合併症 / 遺伝子多型 / 遺伝子間相互作用 / 自然免疫異常 |
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| Research Abstract |
The purpose of this present study was to perform a Genome-Wide Association Study (GWAS) in order to elucidate in greater detail the pathophysiology of Stevens Johnson Syndrome/Toxic Epidermal Necrolysis (SJS/TEN) with severe ocular surface complications. Our GWAS findings revealed 6 single-nucleotide polymorphisms (SNPs) (rs17131450, rs5702, rs1325949, rs7543182, rs7555874, and rs4147114) in prostaglandin E receptor 3 (EP3) that are significantly associated with SJS/TEN. When we looked for the expression of EP3 in the conjunctival epithelium of SJS/TEN patients with severe ocular surface complications, we did not find EP3 protein. On the other hand, the EP3 protein was present in the conjunctival epithelium of the control patients with conjunctivochalasis or pterygium. Moreover, we found a variable with SJS genetic susceptibility effects involved in the locus-pairs of genes PTGER3-TLR3 and HLA-A*0206-TLR3.
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Research Products
(63 results)
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[Journal Article] A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.Pharmacogenomics J2013
Author(s)
Tohkin M, Kaniwa N, Saito Y, Sugiyama E, Kurose K, Nishikawa J, Hasegawa R, Aihara M, Matsunaga K, Abe M, Furuya H, Takahashi Y, Ikeda H, Muramatsu M, Ueta M, Sotozono C, Kinoshita S, Ikezawa Z
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Journal Title
Peer-Reviewed papers
Volume: 13(1)
Pages: 60-69
DOI
Peer Reviewed
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[Journal Article] Visual Improvement after Cultivated Oral Mucosal Epithelial Transplantatio2013
Author(s)
Sotozono C, Inatomi T, Nakamura T, Koizumi N, Yokoi N, Ueta M, Matsuyama K, Miyakoda K, Kaneda H, Fukushima M, Kinoshita S
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Journal Title
Ophthalmol, Peer-Reviewed papers
Volume: 120(1)
Pages: 193-200
DOI
Peer Reviewed
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[Journal Article] Identification of a novel gene by whole human genome tiling array.2013
Author(s)
Ishida H, Yagi T, Tanaka M, Tokuda Y, Kamoi K, Hongo F, Kawauchi A, Nakano M, Miki T, Tashiro K
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Journal Title
Gene, Peer-Reviewed papers
Volume: 516(1)
Pages: 33-38
DOI
Peer Reviewed
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[Journal Article] Epistatic interaction between Toll-like receptor 3 (TLR3) and prostaglandin E receptor 3 (PTGER3) genes2012
Author(s)
Ueta M, Tamiya G, Tokunaga K, Sotozono C, Ueki M, Sawai H, Inatomi T, Matsuoka T, Akira S, Narumiya S, Tashiro K, Kinoshita S
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Journal Title
J Allergy Clin Immunol Peer-Reviewed papers
Volume: 129(5)
Pages: 1413-1416
DOI
Peer Reviewed
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[Journal Article] whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.2011
Author(s)
Tohkin M, Kaniwa N, Saito Y, Sugiyama E, Kurose K, Nishikawa J, Hasegawa R, Aihara M, Matsunaga K, Abe M, Furuya H, Takahashi Y, Ikeda H, Muramatsu M, Ueta M, Sotozono C, Kinoshita S, Ikezawa Z
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Journal Title
Pharmacogenomics J
Volume: 13(1)
Pages: 60-69
DOI
Peer Reviewed
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[Journal Article] for the JSAR research group. HLA-B*1511 is a risk factor for carbamazepine-induced Stevens-Johnson syndrome and toxicepidermal necrolysis in Japanese patients2010
Author(s)
Kaniwa N, Saito Y, Aihara M, Matsunaga K, Tohkin M, Kurose K, Furuya H,Takahashi Y, Muramatsu M, Kinoshita S, Abe M, Ikeda H, Kashiwagi M, Song Y, Ueta M, Sotozono C, Ikezawa Z, Hasegawa R
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Journal Title
Epilepsia
Volume: 51(12)
Pages: 2461-2465
DOI
Peer Reviewed
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[Journal Article] Association between prostaglandin E receptor 3 polymorphisms and Stevens-Johnson syndrome identified by means of a genome-wide association study2010
Author(s)
Ueta M, Sotozono C, Nakano M, Taniguchi T, Yagi T, Tokuda Y, Fuwa M, Inatomi T, Yokoi N, Tashiro K, Kinoshita S
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Journal Title
J Allergy Clin Immunol
Volume: 126(6)
Pages: 1218-1225
DOI
Peer Reviewed
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[Presentation] Etiologic Features of Stevens-Johnson syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) with Ocular Involvement2012
Author(s)
Sotozono C, Ueta M, Kinoshita S, Kitami A, Iijima M, Aihara M, Ikezawa Z, Kano Y, Shiohara T, Shirakata Y, Sakabayashi S, Matsubara Y, Hashimoto K
Organizer
Annual Meeting of the American Academy of Ophthalmology
Place of Presentation
Chicago, USA
Year and Date
2012-11-11
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[Presentation] Association between prostaglandin E receptor 3 polymorphisms and Stevens-Johnson syndrome with ocular involvement identified by genome-wide association study in a Japanese population2010
Author(s)
Ueta M, Sotozono C, Nakano M, Taniguchi T, Yagi T, Tokuda Y, Fuwa M, Inatomi T, Yokoi N, Tashiro K, Kinoshita S
Organizer
Keystone Symposia. Bioactive Lipids: Biochemistry and Diseases
Place of Presentation
Kyoto, JAPAN
Year and Date
2010-06-09
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