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

机译：少年张开角型青光眼巴西患者中肌科和CYP1B1变体的发生

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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.
机译：背景：本研究的目的是从巴西筛查来自巴西的少年开放角胶质瘤（JOAG）患者，用于髓中毒和CYP1B1基因内的变体。材料和方法：在本研究中，我们通过Sanger测序评估了100名无关患者中蛋白酶和CYP1B1基因的编码区域和200个对照。我们还测试了CYP1B1的最常见的单一核苷酸变体，用于与JOAG相关联。结果：在JOAG患者中观察到MyoC基因中的16种不同的序列变体：八个变体被描述为中性，八分之一的JOAG患者中的34例，无控制，因此被认为是损害。在CYP1B1基因中，JOAG患者中发现了九个中性变体和两个破坏性改变。检测到CYP1B1变体和JOAG之间的关联。结论：虽然METOC破坏性改变高度普遍（34％），CYP1B1破坏性变体在这一群体的巴西JOAG患者中的频繁频繁（2％）。

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