Svidnicki Paulo Vinicius, Braghini Carolina Ayumi, Costa Vital Paulino, Schimiti Rui Barroso, de Vasconcellos José Paulo Cabral, de Melo Mônica Barbosa
a Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering - CBMEG , University of Campinas - UNICAMP , Campinas , SP , Brazil.
b Department of Ophthalmology, Faculty of Medical Sciences , University of Campinas - UNICAMP , Campinas , SP , Brazil.
Ophthalmic Genet. 2018 Dec;39(6):717-724. doi: 10.1080/13816810.2018.1546405.
The purpose of this study was to screen juvenile open angle glaucoma (JOAG) patients from Brazil for variants within the MYOC and CYP1B1 genes.
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.
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.
While MYOC damaging alterations were highly prevalent (34%), CYP1B1 damaging variants were less frequent (2%) in this cohort of Brazilian JOAG patients.
本研究旨在筛查巴西青少年开角型青光眼（JOAG）患者的MYOC和CYP1B1基因变异。
在本研究中，我们通过桑格测序评估了100例非亲缘关系的JOAG患者和200例对照者的MYOC和CYP1B1基因编码区。我们还检测了CYP1B1最常见的单核苷酸变异与JOAG的相关性。
在JOAG患者中观察到MYOC基因有16种不同的序列变异：8种变异被描述为中性，8种变异在100例JOAG患者中的34例中被鉴定出，而对照者中未发现，因此被认为具有损害性。在CYP1B1基因中，JOAG患者中发现了9种中性变异和2种具有损害性的改变。未检测到CYP1B1变异与JOAG之间的关联。
在这组巴西JOAG患者中，虽然MYOC的损害性改变非常普遍（34%），但CYP1B1的损害性变异较少见（2%）。
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