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

被引：19
作者：
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 ]
机构：
[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
来源：
OPHTHALMIC GENETICS | 2018年 / 39卷 / 06期
基金：
巴西圣保罗研究基金会;
关键词：
Glaucoma; MYOC; CYP1B1; JOAG; variants; PRIMARY CONGENITAL GLAUCOMA; TRABECULAR MESHWORK; MUTANT MYOCILIN; NON-SECRETION; MUTATIONS; GENE; IDENTIFICATION; PREVALENCE; PHENOTYPE; FAMILIES;
D O I：
10.1080/13816810.2018.1546405
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：717 / 724
页数：8
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