Comprehensive genetic analysis of the COL4A4 gene region for lattice degeneration of the retina

• Project/Area Number: 25462725
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Ophthalmology
• Research Institution: Yokohama City University
• Principal Investigator: Nishide Tadayuki 横浜市立大学, 医学部, 准教授 (90347344)
• Co-Investigator(Kenkyū-buntansha): MEGURO Akira 横浜市立大学, 医学研究科, 特任講師 (60508802) ; MIZUKI Nobuhisa 横浜市立大学, 医学研究科, 教授 (90336579)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000); Fiscal Year 2015: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000); Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2013: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
• Keywords: 網膜格子状変性 / 遺伝子 / SNP

Outline of Final Research Achievements

Lattice degeneration of the retina is a vitreoretinal disorder characterized by focal retinal thinning associated with liquefaction of the overlying vitreous gel and with firm vitreoretinal adherence to the margins of the lesions. Since it has been suggested that the collagen type IV alpha 4 (COL4A4) gene may contribute to the development of lattice degeneration of the retina, we performed a comprehensive genetic analysis of the COL4A4 gene region. This study found that some COL4A4 variants were significantly associated with the disease and that the strongest associated SNP is in the intron region of COL4A4.

Research Products

• [Journal Article] Postoperative refractive error following cataract surgery after the first attack of acute primary angle closure. (2014)
  • Author(s): Nishide T, Hayakawa N, Kimura I, Nakanishi M, Yagi Y, Shibuya E, Mizuki N
  • Journal Title: Int Ophthalmol Volume: 印刷中
  • Peer Reviewed
• [Journal Article] Cataract surgery for tilted lens in peters' anomaly type 2. (2013)
  • Author(s): Nishide T, Nakanishi M, Hayakawa N, Kimura I, Mizuki N
  • Journal Title: Case Rep Ophthalmol Volume: 4(3) Issue: 3 Pages: 134-137
  • DOI: 10.1159/000354611
  • Peer Reviewed
• [Journal Article] Reduction in choroidal thickness of macular area in polypoidal choroidal vasculopathy patients after intravitreal ranibizumab therapy. (2013)
  • Author(s): Nishide T, Hayakawa N, Nakanishi M, Ishii M, Okazaki S, Kimura I, Shibuya E, Mizuki N
  • Journal Title: Graefes Arch Clin Exp Ophthalmol Volume: 251(10) Issue: 10 Pages: 2415-2420
  • DOI: 10.1007/s00417-013-2419-z
  • Peer Reviewed
• [Journal Article] Preoperative factors associated with improvement in visual acuity after globe rupture treatment. (2013)
  • Author(s): Nishide T, Hayakawa N, Nakanishi M, Ishii M, Kimura I, Shibuya E, Nomura E, Mizuki N
  • Journal Title: Eur J Ophthalmol Volume: 23(5) Issue: 5 Pages: 718-722
  • DOI: 10.5301/ejo.5000252
  • Peer Reviewed