Article
Association of variants in the ATXN2 (rs7137828), FOXC1 (rs2745572) and TXNRD2 (rs35934224) genes as risk factors for primary open-angle glaucoma development in a Brazilian cohort.
Ophthalmic genetics - 1 Jun 2023
Rodrigues Thiago Adalton Rosa, de Souza Bruno Batista, Bertozzo Victor de Haidar E, de Castro Júlia Nicoliello Pereira, Camargo Ana Carolina Lima, Costa Fernando Ferreira, Schimiti Rui Barroso, Costa Vital Paulino, de Vasconcellos José Paulo Cabral, de Melo Mônica Barbosa
Abstract excerpt
BACKGROUND: Primary open-angle glaucoma (POAG), the world's main cause of irreversible blindness, is an asymptomatic and neurodegenerative disease of multifactorial etiology with ethnic and geographic disparities. Multiethnic genome-wide association studies (GWAS) identified single nucleotide variants (SNVs) in ATXN2, FOXC1, and TXNRD2 loci as risk factors for POAG pathophysiology and/or endophenotypes. The aim...
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