Association of the myocilin mt.1 promoter variant with the worsening of glaucomatous disease over time

Clin Genet. 2003 Jul;64(1):18-27. doi: 10.1034/j.1399-0004.2003.00099.x.


A major variant of myocilin (MYOC) [TIGR/MYOC mt.1 (-1000 C/G)], present in the gene's promoter, is found to be associated with more rapid progression of the glaucoma disease state. Time-to-event analyses using the Cox proportional hazards model produced substantial statistical evidence that this TIGR/MYOC mt.1(+) variant accelerates worsening for both optic disc and visual field measures of disease progression. These analyses were based on evaluations of 147 patients with primary open-angle glaucoma (POAG) over 35 years of age with an average follow-up of approximately 15 years. Our analyses showed that there are independent effects of the variant on disease progression, taking into account other relevant disease-related baseline risk factors, including age, family history, initial drug treatment, initial surgical treatment, diabetes, gender, myopia, and initial disease severity. The finding that a TIGR/MYOC mt.1(+) determination provided a strong marker for glaucoma progression, above and beyond the other baseline risk factors, suggests a clinical utility in testing for this promoter genotype.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chronic Disease
  • Cytoskeletal Proteins
  • Disease Progression
  • Eye Proteins / genetics*
  • Glaucoma, Open-Angle / genetics*
  • Glycoproteins / genetics*
  • Humans
  • Intraocular Pressure
  • Middle Aged
  • Promoter Regions, Genetic*
  • Time Factors


  • Cytoskeletal Proteins
  • Eye Proteins
  • Glycoproteins
  • trabecular meshwork-induced glucocorticoid response protein