Association of ABCA1 (rs2472493) and GAS7 (rs9913911) gene variants with primary open-angle glaucoma in a Brazilian population

Author(s)

Rocha Araki, Manoel Vinicius ; Oiamore Silva, Yuri Carvalho ; Rosa Rodrigues, Thiago Adalton ; Bajano, Flavia Fialho ; de Souza, Bruno Batista ; Costa, Fernando Ferreira ; Costa, Vital Paulino ; de Melo, Monica Barbosa ; Cabral de Vasconcellos, Jose Paulo

• Document type: Journal article
• Source: MOLECULAR VISION; v. 28, p. 10-pg., 2022-02-22.

Abstract

Purpose: Glaucoma is the world's leading cause of irreversible blindness, with primary open-angle glaucoma (POAG) being the most prevalent subtype. In recent years, there have been advances in knowledge about the genetics involved in POAG, but genetic studies in admixed populations, such as Brazilians, are still rare. This study aimed to evaluate the association of single nucleotide variants (SNV) of the ABCA1 (rs2472493) and GAS7 (rs9913911) genes with POAG in a sample of the Brazilian population. Furthermore, the study aimed to evaluate the relationship between these SNVs and the need for surgical intervention in glaucoma control. Methods: A cross-sectional association study with 1,009 subjects (505 patients with POAG and 504 controls) was performed. Participants underwent a comprehensive ocular examination, including the need for surgical procedures for intraocular pressure control. Genotyping of SNVs was performed using the TaqMan genotyping assay. Results: SNV rs9913911 of GAS7 was found to be associated with POAG in the presence of the risk allele A (p = 0.0004) and the AA genotype (p = 0.002). There was no association between SNV rs2472493 of ABCA1 for either the allele risk or genotypes. However, the combination of these variants showed an additive effect on the risk for POAG: ABCA1(GG) + GAS7(AA; p = 0.02), ABCA1(GG) + GAS7(AG; p = 0.003), and ABCA1(AG) + GAS7(AG; p = 0.004). Also, POAG patients carrying the AA genotype of the GAS7 gene required antiglaucomatous surgery more frequently than those without the AA genotype (p = 0.01). Conclusions: In a Brazilian population sample, there was an association identified between SNV rs9913911 (GAS7) and the risk of POAG, and an additive effect was found when GAS7 was combined with SNV rs2472493 (ABCA1). There was an association between SNV rs9913911 (GAS7) and the risk for antiglaucomatous surgery. (AU)

• FAPESP's process: 18/20628-8 - Genome-wide association study (GWAS) for the identification of variants related to primary open angle Glaucoma in a sample of the Brazilian population stage I: composition of the study group
• Grantee: Mônica Barbosa de Melo
• Support Opportunities: Regular Research Grants
• FAPESP's process: 10/18353-9 - Inflammatory cytokines and their association with treatment and etiology of primary open angle glaucoma
• Grantee: Mônica Barbosa de Melo
• Support Opportunities: Regular Research Grants