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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients

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Author(s):
Svidnicki, Paulo Vinicius [1] ; Braghini, Carolina Ayumi [1] ; Costa, Vital Paulino [2] ; Schimiti, Rui Barroso [2, 3] ; Cabral de Vasconcellos, Jose Paulo [2] ; de Melo, Monica Barbosa [1]
Total Authors: 6
Affiliation:
[1] Univ Estadual Campinas, UNICAMP, Ctr Mol Biol & Genet Engn CBMEG, Lab Human Genet, Campinas, SP - Brazil
[2] Univ Estadual Campinas, UNICAMP, Fac Med Sci, Dept Ophthalmol, Campinas, SP - Brazil
[3] Hoftalon Hosp, Glaucoma Serv, Londrina, PR - Brazil
Total Affiliations: 3
Document type: Journal article
Source: OPHTHALMIC GENETICS; v. 39, n. 6, p. 717-724, NOV 2 2018.
Web of Science Citations: 0
Abstract

Background: The purpose of this study was to screen juvenile open angle glaucoma (JOAG) patients from Brazil for variants within the MYOC and CYP1B1 genes. Material and Methods: In this study, we evaluated the coding regions of MYOC and CYP1B1 genes in 100 non-related patients with JOAG and 200 controls through Sanger sequencing. We also tested the most frequent single nucleotide variants of CYP1B1 for association with JOAG. Results: Sixteen different sequence variants in the MYOC gene were observed in JOAG patients: eight variants were described as neutral and eight were identified in 34 out of 100 patients with JOAG and no controls, thus being considered damaging. In the CYP1B1 gene, nine neutral variants and two damaging alterations were found among JOAG patients. No association between CYP1B1 variants and JOAG was detected. Conclusion: While MYOC damaging alterations were highly prevalent (34%), CYP1B1 damaging variants were less frequent (2%) in this cohort of Brazilian JOAG patients. (AU)

FAPESP's process: 09/15223-0 - Evaluation of mutant alleles of MYOC and CYP1B1 genes in patients with primary open-angle glaucoma
Grantee:Carolina Ayumi Braghini
Support Opportunities: Scholarships in Brazil - Master
FAPESP's process: 13/17958-2 - Study of genetic aspects of primary open-angle glaucoma by whole exome sequencing
Grantee:Paulo Vinicius Svidnicki
Support Opportunities: Scholarships in Brazil - Doctorate