Mutation in 10 Gene are the Genetic Factor for Nonsyndromic Cleft Lip and/or Cleft Palate

• Project/Area Number: 22792018
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Surgical dentistry
• Research Institution: Tokyo Dental College
• Principal Investigator: WATANABE Akira 東京歯科大学, 歯学部, 助教 (50408324)
• Project Period (FY): 2010 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000); Fiscal Year 2011: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2010: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
• Keywords: 口唇裂・口蓋裂 / 候補遺伝子 / SNP / 変異解析 / 相関解析 / TDT検定 / 連鎖不平衡 / DNA / TDT

Research Abstract

We performed mutation analysis of 10 genes(RYK(3q22)、EPHB2(1p36.1-35)、EPHB3(3q28-27)、DLX3(17q23)、TBX10(11q13.1)、TGF-B3(14q24)、PAX9(14q12-q13)、CLPTM1(19q13.2)、PVRL1(11q23)、TBX22(Xq21.1)), case-control study, TDT(transmission disequilibrium test) in the parents with the patients with cleft lip and/or cleft palate. We found a gene associated with the appearance of disease of cleft lip and/or cleft palate.

Research Products

• [Journal Article] No evidence of association between 8q24 and susceptibility to nonsyndromic cleft lip with or without palate in Japanese population (2011)
  • Author(s): Hikida M, Tsuda M, Watanabe A, Kinoshita A, Akita S, Hirano A, Uchiyama T, Yoshiura
  • Journal Title: Cleft Palate Craniofac J
• [Journal Article] No evidence of association between 8q24 and susceptibility to nonsyndromic cleft lip with or without palate in Japanese population (2011)
  • Author(s): Hikida M, Tsuda M, Watanabe A
  • Journal Title: Cleft Palate Craniofac J Volume: (掲截確定) Issue: 6 Pages: 714-717
  • DOI: 10.1597/10-242
  • Peer Reviewed
• [Journal Article] RYK遺伝子変異は非症候性の口唇裂・口蓋裂発症における遺伝要因の一つである (2010)
  • Author(s): 渡邊章, 秋田定伯, 夏目長門, 中野洋子, 内山健志, 吉浦孝一郎
  • Journal Title: 日本口蓋裂学会雑誌 Volume: 35巻1号 Pages: 9-17
  • NAID: 10029088703
• [Journal Article] RYK遺伝子変異は非症候性の口唇裂・口蓋裂発症における遺伝要因の一つである (2010)
  • Author(s): 渡邊章
  • Journal Title: 日本口蓋裂学会雑誌 Volume: 35 Pages: 9-17
  • NAID: 10029088703
  • Peer Reviewed
• [Presentation] Current problems associated with orthognathic surgery for secondary cleft palate skeletal deformity (2011)
  • Author(s): Akira Watanabe
  • Organizer: The 50th Congress of the Korean Association of Maxillofacial Plastic and Reconstructive Surgeons
  • Place of Presentation: 韓国(水原市)(招待講演)
  • Year and Date: 2011-11-17
• [Presentation] 口唇裂・口蓋裂発症に関与の報告がある10遺伝子の解析 (2011)
  • Author(s): 渡邊章, 内山健志, 夏目長門, 引田正宣, 中野洋子, 須賀賢一郎, 大畠仁, 高野伸夫, 柴原孝彦
  • Organizer: 日本口腔外科学会雑誌
• [Presentation] 日本人唇顎口蓋裂の関連遺伝子8q24領域の解析 (2011)
  • Author(s): 引田正宣, 津田雅由, 渡邊章, 平野明喜, 吉浦孝一郎, 高野伸夫, 内山健志
  • Organizer: 日本口蓋裂学会雑誌
• [Presentation] 口唇裂・口蓋裂発症に関与するとされている10遺伝子の解析 (2010)
  • Author(s): 渡邊章
  • Organizer: 日本口蓋裂学会
  • Place of Presentation: 東京都
  • Year and Date: 2010-05-27
• [Presentation] 口唇裂・口蓋裂の分子遺伝学研究これまでの研究成果とこれからの原因追究口唇裂・口蓋裂発症に関与するとされている10遺伝子の解析
  • Author(s): 渡邊章
  • Organizer: 日本口蓋裂学会