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Related Experiment Videos

Glaucoma Risk Alleles in the Ocular Hypertension Treatment Study.

Todd E Scheetz1, Ben Faga1, Lizette Ortega2

  • 1Department Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa; Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa.

Ophthalmology
|October 7, 2016
PubMed
Summary

Genetic factors for primary open-angle glaucoma (POAG) were analyzed in the Ocular Hypertension Treatment Study (OHTS). A specific gene, TMCO1, was found to increase POAG risk in non-Hispanic whites.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Public Health

Background:

  • Primary open-angle glaucoma (POAG) is a leading cause of irreversible blindness.
  • Genetic factors are known contributors to POAG development and optic nerve characteristics.
  • Previous studies identified several genetic risk factors for POAG.

Purpose of the Study:

  • To evaluate the relative risk of POAG associated with known genetic factors in the Ocular Hypertension Treatment Study (OHTS) cohort.
  • To investigate the association between specific genetic risk alleles and POAG development.

Main Methods:

  • DNA samples from 1057 OHTS participants (209 POAG cases, 848 controls) were analyzed.
  • Frequencies of 13 previously identified POAG risk alleles were compared between cases and controls.
  • Subgroup analyses were performed for non-Hispanic whites and blacks; TMCO1 risk alleles were specifically assessed for their impact on glaucoma development probability.

Main Results:

  • No overall association was found between known POAG risk alleles and POAG in the entire OHTS cohort.
  • A statistically significant difference in allele frequencies at the TMCO1 locus was observed between POAG cases and controls in non-Hispanic whites (P=0.00028).
  • TMCO1 risk alleles were associated with a 12% higher cumulative incidence of POAG in non-Hispanic whites over 13 years, with a relative risk comparable to intraocular pressure.

Conclusions:

  • While the OHTS cohort size may limit the detection of some genetic risk factors, the TMCO1 genotype significantly increases POAG risk in non-Hispanic whites.
  • The identified genetic predictor (TMCO1) demonstrates a risk magnitude similar to established clinical predictors like intraocular pressure.
  • This finding highlights the importance of genetic factors, specifically TMCO1, in POAG pathogenesis within specific racial groups.