RGD Reference Report - Association of POAG risk factors and the Thr377Met MYOC mutation in an isolated Greek population. - Rat Genome Database

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

Authors: Wirtz, MK  Samples, JR  Toumanidou, V  Charlesworth, J  Mikropoulos, DG  Kaltsos, K  Economou, A  Dimopoulos, A  Georgiadou, IN  Moumtzis, G  Papanastasiou, A  Kramer, PL  Dyer, T  Blangero, J  Konstas, AG 
Citation: Wirtz MK, etal., Invest Ophthalmol Vis Sci. 2010 Jun;51(6):3055-60. doi: 10.1167/iovs.09-4652. Epub 2010 Jan 27.
RGD ID: 7394831
Pubmed: PMID:20107173   (View Abstract at PubMed)
PMCID: PMC2891465   (View Article at PubMed Central)
DOI: DOI:10.1167/iovs.09-4652   (Journal Full-text)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
MYOCHumanocular hypertension  IAGP associated with Glaucoma more ...RGD 
MyocRatocular hypertension  ISOMYOC (Homo sapiens)associated with Glaucoma more ...RGD 
MyocMouseocular hypertension  ISOMYOC (Homo sapiens)associated with Glaucoma more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
MYOCHumanOcular hypertension  IAGP associated with Glaucoma more ...RGD 
Objects Annotated

Genes (Rattus norvegicus)
Myoc  (myocilin)

Genes (Mus musculus)
Myoc  (myocilin)

Genes (Homo sapiens)
MYOC  (myocilin)


Additional Information