NDLI: Myocilin mt.1 gene promoter single nucleotide polymorphism (-1000C>G) in Brazilian patients with primary open angle glaucoma.

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Myocilin mt.1 gene promoter single nucleotide polymorphism (-1000C>G) in Brazilian patients with primary open angle glaucoma.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Kasahara, Niro Caixeta-Umbelino, Cristiano Paolera, Maurício D. Rocha, Mylene N. Richeti, Flávio Vasconcellos, José P. C. Cohen, Ralph Costa, Vital P. Longui, Carlos A. Melo, Murilo R. Melo, Mônica B.
Spatial Coverage	Brazil
Description	Country affiliation: Brazil Author Affiliation: Kasahara N ( Irmandade da Santa Casa de Misericordia de Sao Paulo, Department of Ophthalmology, School of Medical Sciences, Sao Paulo, Brazil. nirokasahara@ig.com.br)
Abstract	BACKGROUND: The myocilin (MYOC) gene promoter polymorphism -1000C>G (MYOC mt.1) can be associated with faster progression of primary open angle glaucoma (POAG). The purpose of this study was to investigate the MYOC mt.1 in Brazilian patients with POAG and to evaluate its possible role on the phenotype and the severity of the disease. MATERIAL AND METHODS: One hundred sixty-seven POAG patients and 130 normal controls were enrolled. DNA samples were prepared and the MYOC mt.1 polymorphism was screened by real-time polymerase chain reaction (RT-PCR) in an Single-nucleotide polymorphism (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. Intraocular pressure (IOP), cup-to-disc ratio (C/D), number of glaucoma medications, and number of glaucoma surgeries were compared between MYOC mt.1 carriers and non-carriers. RESULTS: MYOC mt.1 genotype frequencies did not differ between POAG and controls (P = 0.420); 14.6% of controls and 16.4% of POAG patients were MYOC mt.1 carriers (CG or GG). Frequencies of the G allele were similar between glaucomatous patients and controls (7.3% and 9.2%, respectively; P = 0.477). Among POAG patients, there were no differences in mean C/D ratio, IOP, number of glaucoma medications, and surgical procedures for IOP control between carries and non-carriers of the MYOC mt.1 promoter polymorphism (p>0.05). CONCLUSION: The G allele of the MYOC mt.1 promoter polymorphism was equally distributed among POAG patients and healthy subjects and it is possibly unrelated to the risk and severity of disease in the Brazilian population.
File Format	HTM / HTML
ISSN	13816810
Issue Number	1
Volume Number	32
e-ISSN	17445094
Journal	Ophthalmic Genetics
Language	English
Publisher	Taylor & Francis
Publisher Date	2011-03-01
Publisher Place	Great Britain (UK)
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Ophthalmology Discipline Genetics Discipline Medical Cytoskeletal Proteins Genetics Eye Proteins Glaucoma, Open-angle Glycoproteins Polymorphism, Single Nucleotide Promoter Regions, Genetic Aged Brazil Epidemiology Female Gene Frequency Genotype Ethnology Humans Intraocular Pressure Male Middle Aged Phenotype Reverse Transcriptase Polymerase Chain Reaction Journal Article
Content Type	Text
Resource Type	Article
Subject	Ophthalmology Genetics (clinical) Pediatrics, Perinatology and Child Health

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