title: Association of POAG risk factors and the Thr377Met MYOC mutation in an isolated Greek population.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Ophthalmology, Casey Eye Institute, Oregon Health and Sciences University, Portland, Oregon, USA.
authors.forename: Mary K
authors.initials: MK
authors.lastname: Wirtz
authors.forename: John R
authors.initials: JR
authors.lastname: Samples
authors.forename: Victoria
authors.initials: V
authors.lastname: Toumanidou
authors.forename: Jac
authors.initials: J
authors.lastname: Charlesworth
authors.forename: Dimitrios G
authors.initials: DG
authors.lastname: Mikropoulos
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Kaltsos
authors.forename: Athanasios
authors.initials: A
authors.lastname: Economou
authors.forename: Antonios
authors.initials: A
authors.lastname: Dimopoulos
authors.forename: Irene N
authors.initials: IN
authors.lastname: Georgiadou
authors.forename: Georgios
authors.initials: G
authors.lastname: Moumtzis
authors.forename: Athanasios
authors.initials: A
authors.lastname: Papanastasiou
authors.forename: Patricia L
authors.initials: PL
authors.lastname: Kramer
authors.forename: Tom
authors.initials: T
authors.lastname: Dyer
authors.forename: John
authors.initials: J
authors.lastname: Blangero
authors.forename: Anastasios G P
authors.initials: AG
authors.lastname: Konstas
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006115:Greece / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D007429:Intraocular Pressure; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D012307:Risk Factors; D012424:Rural Population; D044465:White People / Q000235:genetics; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin