The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene

Hum Genet. 2003 Aug;113(3):276-9. doi: 10.1007/s00439-003-0964-y. Epub 2003 Jun 17.


Glaucoma represents one of the most common eye diseases and is characterized by progressive loss of visual fields. In the more advanced stages bilateral blindness may result, due to optic nerve atrophy and an excavated optic nerve head. Open-angle glaucoma is one of the main disease subsets, which may be further divided into high tension primary open-angle glaucoma (POAG) and normal tension glaucoma (NTG). Recently, the optineurin ( OPTN) gene was identified as a causative factor for NTG. Alterations in this gene were found in Caucasian families with NTG. In particular, c.458G>A, c.691-692insAG and c.1944G>A were shown to be risk factors. Since NTG is reported to be the most common form of glaucoma in Japan, and to identify if the OPTN gene plays a role in POAG, the DNAs from 148 unrelated Japanese patients with NTG, 165 patients with POAG and 196 unrelated controls who were not suffering glaucoma were investigated by appropriate genotyping techniques. No glaucoma-specific mutations were found in the OPTN gene in Japanese glaucoma patients. However, some novel single-nucleotide polymorphisms (SNPs) in the exons and introns are reported in this paper for the first time.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Asian People / genetics*
  • Cell Cycle Proteins
  • DNA Mutational Analysis
  • Exons
  • Eye Proteins / genetics*
  • Female
  • Glaucoma / genetics
  • Glaucoma / physiopathology
  • Glaucoma, Open-Angle / genetics*
  • Humans
  • Intraocular Pressure*
  • Introns
  • Japan / ethnology
  • Male
  • Membrane Transport Proteins
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Polymorphism, Single Nucleotide*
  • Transcription Factor TFIIIA*


  • Cell Cycle Proteins
  • Eye Proteins
  • Membrane Transport Proteins
  • Nerve Tissue Proteins
  • OPTN protein, human
  • Transcription Factor TFIIIA