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

Autor(es)

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]

Afiliação do(s) autor(es)

^[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

• Tipo de documento: Artigo Científico
• Fonte: OPHTHALMIC GENETICS; v. 39, n. 6, p. 717-724, NOV 2 2018.
• Citações Web of Science: 0

Resumo

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)

• Processo FAPESP: 09/15223-0 - Avaliação de alelos mutantes dos genes MYOC e CYP1B1 em pacientes portadores de glaucoma primário de ângulo aberto
• Beneficiário: Carolina Ayumi Braghini
• Linha de fomento: Bolsas no Brasil - Mestrado
• Processo FAPESP: 13/17958-2 - Avaliação de aspectos genéticos do glaucoma primário de ângulo aberto por meio do sequenciamento de exoma total
• Beneficiário: Paulo Vinicius Svidnicki
• Linha de fomento: Bolsas no Brasil - Doutorado
• Processo FAPESP: 02/11575-0 - Identificação de genes associados ao glaucoma primário de ângulo aberto
• Beneficiário: José Paulo Cabral de Vasconcellos
• Linha de fomento: Auxílio à Pesquisa - Apoio a Jovens Pesquisadores