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. 2010 Jun;51(6):3055-60.
doi: 10.1167/iovs.09-4652. Epub 2010 Jan 27.

Association of POAG risk factors and the Thr377Met MYOC mutation in an isolated Greek population

Mary K Wirtz  1 , 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
Affiliations

Association of POAG risk factors and the Thr377Met MYOC mutation in an isolated Greek population

Mary K Wirtz et al. Invest Ophthalmol Vis Sci. 2010 Jun.

Abstract

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.

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Figures

Figures 1–4.
Figures 1–4.
Pedigree structure of participants from the village. Circle: female; square: male. Black upper left quadrant in symbol: POAG; gray upper left quadrant: suspected glaucoma; violet upper left quadrant: reported history of glaucoma; blue upper right quadrant: presence of Thr377Met MYOC mutation. Asterisk in upper left quadrant: no DNA sample available and therefore no test conducted for the presence of Thr377Met MYOC mutation. Right half of the symbol filled with blue: two individuals homozygous for the Thr377Met MYOC mutation. Numbers starting with A below symbol: individual participated in the study. Symbol with slash: individual is deceased. Green or blue background: individuals repeated in the panels, showing relationship between pedigrees in the individual panels.
Figures 1–4.
Figures 1–4.
Pedigree structure of participants from the village. Circle: female; square: male. Black upper left quadrant in symbol: POAG; gray upper left quadrant: suspected glaucoma; violet upper left quadrant: reported history of glaucoma; blue upper right quadrant: presence of Thr377Met MYOC mutation. Asterisk in upper left quadrant: no DNA sample available and therefore no test conducted for the presence of Thr377Met MYOC mutation. Right half of the symbol filled with blue: two individuals homozygous for the Thr377Met MYOC mutation. Numbers starting with A below symbol: individual participated in the study. Symbol with slash: individual is deceased. Green or blue background: individuals repeated in the panels, showing relationship between pedigrees in the individual panels.
Figures 1–4.
Figures 1–4.
Pedigree structure of participants from the village. Circle: female; square: male. Black upper left quadrant in symbol: POAG; gray upper left quadrant: suspected glaucoma; violet upper left quadrant: reported history of glaucoma; blue upper right quadrant: presence of Thr377Met MYOC mutation. Asterisk in upper left quadrant: no DNA sample available and therefore no test conducted for the presence of Thr377Met MYOC mutation. Right half of the symbol filled with blue: two individuals homozygous for the Thr377Met MYOC mutation. Numbers starting with A below symbol: individual participated in the study. Symbol with slash: individual is deceased. Green or blue background: individuals repeated in the panels, showing relationship between pedigrees in the individual panels.
Figures 1–4.
Figures 1–4.
Pedigree structure of participants from the village. Circle: female; square: male. Black upper left quadrant in symbol: POAG; gray upper left quadrant: suspected glaucoma; violet upper left quadrant: reported history of glaucoma; blue upper right quadrant: presence of Thr377Met MYOC mutation. Asterisk in upper left quadrant: no DNA sample available and therefore no test conducted for the presence of Thr377Met MYOC mutation. Right half of the symbol filled with blue: two individuals homozygous for the Thr377Met MYOC mutation. Numbers starting with A below symbol: individual participated in the study. Symbol with slash: individual is deceased. Green or blue background: individuals repeated in the panels, showing relationship between pedigrees in the individual panels.
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