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