May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Myocilin Mt.1 Gene Promoter Single Nucleotide Polymorphism in Brazilian Patients With Primary Open Angle Glaucoma
Author Affiliations & Notes
  • N. Kasahara
    Santa Casa de Sao Paulo, Sao Paulo, Brazil
    Opthalmology, Opthalmology,
  • C. Caixeta-Umbelino
    Santa Casa de Sao Paulo, Sao Paulo, Brazil
    Opthalmology, Opthalmology,
  • J. P. C. Vasconcellos
    Opthalmology, Opthalmology,
    State University of Campinas, Campinas, Brazil
  • M. R. Melo
    Santa Casa de Sao Paulo, Sao Paulo, Brazil
    Molecular Medicine, Molecular Genetics,
  • M. D. Paolera
    Santa Casa de Sao Paulo, Sao Paulo, Brazil
    Opthalmology, Opthalmology,
  • F. Richeti
    Santa Casa de Sao Paulo, Sao Paulo, Brazil
    Molecular Medicine, Molecular Genetics,
  • M. N. Rocha
    Santa Casa de Sao Paulo, Sao Paulo, Brazil
    Molecular Medicine, Molecular Genetics,
  • V. P. Costa
    Opthalmology, Opthalmology,
    State University of Campinas, Campinas, Brazil
  • C. A. Longui
    Santa Casa de Sao Paulo, Sao Paulo, Brazil
    Molecular Medicine, Molecular Genetics,
  • M. B. Melo
    Molecular Medicine, Molecular Genetics,
    State University of Campinas, Campinas, Brazil
  • Footnotes
    Commercial Relationships  N. Kasahara, None; C. Caixeta-Umbelino, None; J.P.C. Vasconcellos, None; M.R. Melo, None; M.D. Paolera, None; F. Richeti, None; M.N. Rocha, None; V.P. Costa, None; C.A. Longui, None; M.B. Melo, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 5113. doi:https://doi.org/
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      N. Kasahara, C. Caixeta-Umbelino, J. P. C. Vasconcellos, M. R. Melo, M. D. Paolera, F. Richeti, M. N. Rocha, V. P. Costa, C. A. Longui, M. B. Melo; Myocilin Mt.1 Gene Promoter Single Nucleotide Polymorphism in Brazilian Patients With Primary Open Angle Glaucoma. Invest. Ophthalmol. Vis. Sci. 2008;49(13):5113. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : To investigate the myocilin (MYOC) gene promoter polymorphism -1000C>G (MYOC mt.1) in Brazilian patients with primary open angle glaucoma (POAG) and to evaluate its possible role on the phenotype and the severity of the disease.

Methods: : Eighty-nine patients with POAG and 107 normal controls enrolled the study. DNA samples were prepared and the MYOC mt.1 polymorphism in the promoter region was screened by RT - PCR in a SNP assay. Frequencies of the MYOC mt.1 promoter polymorphism were determined for both groups and compared by Fisher’s exact test and Chi-square test with Yate’s correction.

Results: : MYOC mt.1 genotype frequencies did not differ in POAG and healthy subjects (P=0.328); 14.9% of control subjects and 21.3% of POAG patients were MYOC mt.1 carriers (either CG or GG). The frequency of G allele was similar between glaucoma and controls (10.8% and 7.4%, respectively; P=0.326). Among POAG patients there was no difference, according to the genotype, in intraocular pressure (IOP) levels and surgical procedures for IOP control.

Keywords: gene screening • intraocular pressure • optic disc 
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