Genetic analysis of elastofibroma

• Project/Area Number: 15K01621
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Sports science
• Research Institution: Oita University
• Principal Investigator: Fujiwara Sakuhei 大分大学, 医学部, 客員研究員 (90181411)
• Co-Investigator(Kenkyū-buntansha): 関根 章博 千葉大学, 予防医学センター, 教授 (30425631) ; 島田 浩光 大分大学, 医学部, 助教 (70330826) ; 石川 一志 大分大学, 医学部, 助教 (80600452)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Project Status: Completed (Fiscal Year 2017)
• Budget Amount: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000); Fiscal Year 2017: ¥130,000 (Direct Cost: ¥100,000、Indirect Cost: ¥30,000); Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2015: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
• Keywords: 弾性線維腫 / 家系解析 / 沖縄県 / 遺伝子 / 画像診断 / 家族性 / 浸透率 / 肩運動 / GWAS

Outline of Final Research Achievements

Elastofibroma is a rare benign tumor, localized, in most cases, to the infrascapular region. Elastin-specific staining reveals multiple globular or bead-like structures in cross sections. Electron microscopy reveals abnormal flower-like aggregates of elastic fibers, suggesting that the structure and organization of the microfibrils are abnormal. The molecular mechanisms of this disease are not known. In 1982, Nagamine et al reported that a number of cases was found in families in Tonaki and Aguni Islands in Okinawa. We started the field work in both islands since 2014 to identify the related gene(s). In order to confirm the diagnosis, we interpreted radiographic images. We found 38 positive and 30 negative cases. Tentative correlation analysis, the possible gene locus was found on one chromosome, but p value was low. We correct more cases in the future to identify the invoving gene(s).

Research Products

• [Journal Article] Epiplakin Is a Paraneoplastic Pemphigus Autoantigen and Related to Bronchiolitis Obliterans in Japanese Patients. (2016)
  • Author(s): Tsuchisaka A, Numata S, Teye K, et al.
  • Journal Title: J Invest Dermatol Volume: 136 Issue: 2 Pages: 399-408
  • DOI: 10.1038/jid.2015.408
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Three cases of pigmented cosmetic dermatitis-like eruptions associated with primary Sjogren syndrome or anti-SSA antibody. (2016)
  • Author(s): Takeo N, Sakai T, Saito-Shono T, Ishikawa K, Hatano Y, Katagiri K, Takahashi Y, Kawano K, Kimoto K, Kubota T, Eshima N, Kojima H, Fujiwara S.
  • Journal Title: J Dermatol. Volume: 43 Issue: 8 Pages: 947-50
  • DOI: 10.1111/1346-8138.13300
  • Peer Reviewed / Open Access
• [Journal Article] Combined Benefits of a PAR2 Inhibitor and Stratum Corneum Acidification for Murine Atopic Dermatitis. (2016)
  • Author(s): Sakai T, Hatano Y, Matsuda-Hirose H, et al.
  • Journal Title: J Invest Dermatol Volume: 136 Issue: 2 Pages: 538-41
  • DOI: 10.1016/j.jid.2015.11.011
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Familial primary localized cutaneous amyloidosis in a Japanese family. (2016)
  • Author(s): Ueo D, Utani A, Okubo Y, Yozaki M, Mine Y, Anan T, Nishida H, Takahashi D,
  • Journal Title: J Dermatol Sci Volume: 83 Issue: 2 Pages: 162-164
  • DOI: 10.1016/j.jdermsci.2016.05.007
  • Peer Reviewed
• [Journal Article] Results of second-stage screening for skin cancers in Oita Prefecture, Japan. (2015)
  • Author(s): Kai Y, Ishikawa K, Goto M, et al.
  • Journal Title: J Dermatol Volume: 42 Issue: 12 Pages: 1160-1164
  • DOI: 10.1111/1346-8138.13016
  • Peer Reviewed
• [Journal Article] Association between HLA-DRB1*0405, -DQB1*0401 and -DQA1*0303 alleles and lamotrigine-induced cutaneous adverse drug reactions. A pilot case-control study from Japan (2015)
  • Author(s): Ito A, Shimada H, Ishikawa K, Takeo N, Hatano Y, Katagiri K, Kohno K, Araki Y, Terao T, Kojima H, Terao C, Eshima N, Fujiwara S
  • Journal Title: Journal of Affected Disorders Volume: 179 Pages: 47-50
  • DOI: 10.1016/j.jad.2015.03.018
  • Peer Reviewed
• [Presentation] 弾性線維腫の大家系パラメトリック連鎖解析による原因遺伝子の探索 (2016)
  • Author(s): 関根章博
  • Organizer: 第98回日本皮膚科学会大分地方会
  • Place of Presentation: ホルトホール大分（大分市）
  • Year and Date: 2016-03-05
  • Invited
• [Remarks] 大分大学医学部研究業績目録
  • URL: http://www.med.oita-u.ac.jp/gyoseki/2015/no1549.htm
• [Remarks] 大分大学医学部皮膚科研究業績
  • URL: http://www.med.oita-u.ac.jp/gyoseki/2014/no1449.htm