Mutations in the optineurin gene in Japanese patients with primary open-angle glaucoma and normal tension glaucoma

Am J Med Genet A. 2004 Feb 15;125A(1):1-4. doi: 10.1002/ajmg.a.20439.


The optineurin gene (OPTN) was identified as a gene that causes primary open-angle glaucoma (POAG) and normal tension glaucoma (NTG). To investigate the frequency of sequence changes in OPTN in Japanese glaucoma patients, single-strand conformation polymorphism analysis and subsequent sequence analysis were performed for genotyping OPTN in 165 unrelated Japanese patients with POAG and 148 patients with NTG, with 196 control subjects without glaucoma as reference subjects. Out of four mutations reported to be associated with risk and to cause disease in Caucasian patients, sequence alterations in 458G > A and 691_692insAG were not detected in any investigated Japanese patients with glaucoma, and alterations in 1944G > A and 603T > A, were present in similar frequencies in glaucoma patients and control subjects. The current results suggest that there may be certain racial differences between Japanese and Caucasians with respect to OPTN genotypes.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Cell Cycle Proteins
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Gene Frequency
  • Glaucoma / genetics*
  • Glaucoma / pathology
  • Glaucoma, Open-Angle / genetics*
  • Glaucoma, Open-Angle / pathology
  • Humans
  • Japan
  • Membrane Transport Proteins
  • Middle Aged
  • Mutation*
  • Point Mutation
  • Transcription Factor TFIIIA / genetics*


  • Cell Cycle Proteins
  • Membrane Transport Proteins
  • OPTN protein, human
  • Transcription Factor TFIIIA
  • DNA