Association of POAG risk factors and the Thr377met MYOC mutation in an isolated greek population

Mary K. Wirtz, John R. Samples, Victoria Toumanidou, Jac Charlesworth, Dimitrios G. Mikropoulos, Konstantinos Kaltsos, Athanasios Economou, Antonios Dimopoulos, Irene N. Georgiadou, Georgios Moumtzis, Athanasios Papanastasiou, Patricia L. Kramer, Tom Dyer, John Blangero, Anastasios G.P. Konstas

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Purpose. To characterize the MYOC genotype correlation with phenotypes in an isolated Greek population with a high incidence of glaucoma. Methods. Five hundred thirty-one villagers were enrolled in the study. Participants underwent a comprehensive ophthalmic examination. All three exons of myocilin were bidirectionally sequenced. Power calculations and measured genotype analysis was conducted using the genetic variance analysis program, SOLAR version 4.2, to account for the relatedness between individuals. Results. The participants, 376 of whom were linked in a single 11-generation pedigree, ranged in age from 10 to 95 years with a mean age of 49. Sixty-five individuals had POAG, and 27 of those carried the Thr377Met MYOC mutation. Both peak intraocular pressure and vertical cup-to dis-ratio were significantly associated with the MYOC Thr377Met variant (P = 9 X 10~14 and P = 9 X 10~8, respectively), whereas central corneal thickness showed no significant association (P < 0.7). Conclusions. This village had a high frequency of glaucoma, with 12% of the participants aged 10 to 95 years having the disease. In this cohort, the Thr377Met MYOC mutation was significantly associated with both high intraocular pressures and high vertical cup-to-disc ratios. No association was found with central corneal thickness.

Original languageEnglish (US)
Pages (from-to)3055-3060
Number of pages6
JournalInvestigative Ophthalmology and Visual Science
Issue number6
StatePublished - Jun 2010

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience


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