[Mutations and polymorphisms in the genes for myocilin and optineur in as the risk factors of primary open-angle glaucoma]

Genetika. 2005 Nov;41(11):1567-74.
[Article in Russian]


A collection of DNA samples obtained from primary open-angle glaucoma (POAG) patients from St. Petersburg was analyzed for single-strand conformation polymorphism (SSCP) to reveal sequence variants in exon 3 of the myocilin gene (MYOC/TIGR) and in exons 4 and 5 of the optineurin gene (OPTN), where most of the mutations revealed worldwide are located. The Q368X mutation (c. 1102 C --> T) in exon 3 of MYOC/TIGR was detected in 1.2% (2/170) of the POAG patients from St. Petersburg, i.e., with the frequency close to that observed in other world populations. Three known polymorphisms in exon 3 of MYOC/TIGR, Y347Y (c. 1041 T --> C) (12.4%), T325T (c. 975 G --> A) (0.6%), and K398R (c. 1193 A --> G) (0.6%) were also detected. No statistically significant differences in frequencies of these polymorphisms were revealed between the POAG patient and control groups. The L41L polymorphism (c. 433 G --> A) in exon 4 of OPTN was detected in 2.9% of probands and in 1% of controls. The frequency of heterozygotes for the M98K polymorphism (c. 603 T --> A) in the OPTN exon 5 was statistically significantly higher (P = 0.036; Fisher's exact test) among the POAG patients (6.5%) than among the controls (1%). In the sample examined the E50K mutation, typical of the patients with pseudonormal intraocular pressure glaucoma, was not found.

MeSH terms

  • Amino Acid Substitution
  • Case-Control Studies
  • Cell Cycle Proteins
  • Cytoskeletal Proteins / genetics*
  • DNA Mutational Analysis
  • Exons / genetics
  • Eye Proteins / genetics*
  • Female
  • Gene Frequency
  • Glaucoma, Open-Angle / genetics*
  • Glycoproteins / genetics*
  • Heterozygote
  • Humans
  • Male
  • Membrane Transport Proteins
  • Pedigree
  • Point Mutation*
  • Polymorphism, Single-Stranded Conformational*
  • Risk Factors
  • Transcription Factor TFIIIA / genetics*


  • Cell Cycle Proteins
  • Cytoskeletal Proteins
  • Eye Proteins
  • Glycoproteins
  • Membrane Transport Proteins
  • OPTN protein, human
  • Transcription Factor TFIIIA
  • trabecular meshwork-induced glucocorticoid response protein