Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases

Ophthalmic Genet. 2005 Jun;26(2):85-9. doi: 10.1080/13816810490967953.


Objective: Glaucoma, a leading cause of blindness in the world, is characterized by neuropathy of the retinal ganglion cells and the optic nerve. Recently, sequence alterations in the optineurin gene were shown to be associated with the disease in families with primarily normal tension glaucoma.

Methods: In the present study, 200 patients with primary open-angle glaucoma, 200 patients with exfoliative glaucoma, and 200 matched controls were tested for alterations in the coding sequences using denaturing high-performance liquid chromatography and sequencing. In addition, single nucleotide polymorphisms distributed throughout the gene were typed and haplotypes were constructed.

Results: No disease-causing alterations were found in either of the patient cohorts. The risk-associated allele M98K was found in equal amounts in both patients and controls. Analysis of haplotype frequencies and distribution revealed high haplotype diversity but no differences between patients and controls.

Conclusion: These experiments show no association between optineurin and our Swedish cohorts of high-pressure glaucoma cases, either in coding sequence or in haplotype frequency and distribution.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Case-Control Studies
  • Cell Cycle Proteins
  • Cohort Studies
  • DNA Mutational Analysis
  • Female
  • Genetic Variation*
  • Glaucoma, Open-Angle / epidemiology
  • Glaucoma, Open-Angle / genetics*
  • Haplotypes / genetics*
  • Humans
  • Male
  • Membrane Transport Proteins
  • Middle Aged
  • Polymorphism, Single Nucleotide / genetics*
  • Sweden / epidemiology
  • Transcription Factor TFIIIA / genetics*


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