Myocilin Mt.1 Gene Promoter Single Nucleotide Polymorphism in Brazilian Patients With Primary Open Angle Glaucoma

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