June 2021
Volume 62, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2021
Association of ABCA1 rs2472493 and GAS7 rs9913911 variants with POAG in a Brazilian population
Author Affiliations & Notes
  • Monica B Melo
    Center for Molecular Biology and Genetic Engineering, University of Campinas, Campinas, Sao Paulo, Brazil
  • Manoel Vinicius Rocha Araki
    Ophthalmology, University of Campinas, Campinas, Sao Paulo, Brazil
  • Yuri Carvalho Oiamore Silva
    Center for Molecular Biology and Genetic Engineering, University of Campinas, Campinas, Sao Paulo, Brazil
  • Thiago Adalton Rosa Rodrigues
    Center for Molecular Biology and Genetic Engineering, University of Campinas, Campinas, Sao Paulo, Brazil
  • Flávia Fialho Bajano
    Center for Molecular Biology and Genetic Engineering, University of Campinas, Campinas, Sao Paulo, Brazil
  • Rui Barroso Schimiti
    Hoftalon Hospital de Olhos, Londrina, Paraná, Brazil
    Ophthalmology, University of Campinas, Campinas, Sao Paulo, Brazil
  • Vital P Costa
    Ophthalmology, University of Campinas, Campinas, Sao Paulo, Brazil
  • Jose Paulo C Vasconcellos
    Ophthalmology, University of Campinas, Campinas, Sao Paulo, Brazil
  • Footnotes
    Commercial Relationships   Monica Melo, None; Manoel Vinicius Araki, None; Yuri Silva, None; Thiago Adalton Rodrigues, None; Flávia Bajano, None; Rui Schimiti, None; Vital Costa, None; Jose Paulo Vasconcellos, None
  • Footnotes
    Support  FAPESP 2010/18353-9; CNPq 407886/2016-8; FAEPEX 2182/20
Investigative Ophthalmology & Visual Science June 2021, Vol.62, 1490. doi:
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      Monica B Melo, Manoel Vinicius Rocha Araki, Yuri Carvalho Oiamore Silva, Thiago Adalton Rosa Rodrigues, Flávia Fialho Bajano, Rui Barroso Schimiti, Vital P Costa, Jose Paulo C Vasconcellos; Association of ABCA1 rs2472493 and GAS7 rs9913911 variants with POAG in a Brazilian population. Invest. Ophthalmol. Vis. Sci. 2021;62(8):1490.

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Abstract

Purpose : Genome-wide association studies have identified genetic variants associated with primary open-angle glaucoma (POAG), including ABCA1 gene rs2472493 and GAS7 gene rs9913911. However, no studies have been performed in heterogeneous populations such as Brazilian. Therefore, the aim of this study was to investigate the association of the ABCA1 rs2472493 and GAS7 rs9913911 with the risk of POAG development in a sample of the Brazilian population.

Methods : This was a cross-sectional, candidate gene association study structured as case control. The study was performed with 1036 subjects, encompassing 520 POAG patients and 516 controls. All participants were over 40 years old and underwent a complete ophthalmic evaluation. The genotyping of the variants was performed through Taqman® assays and the results were confirmed by Sanger sequencing in 10% of the samples from each group. The association of the variants was tested by chi-square test and logistic regression analysis.

Results : We identified the association of rs9913911 variant of the GAS7 gene with POAG development in the presence of the A risk allele (p = 0.0255; OR = 1.602; CI95% = 1.060-2.421). In the presence of the AA genotype the risk of developing POAG was even higher (p = 0.0032; OR = 1.881; CI95% = 1.222-2.896). No significant association was observed for rs2472493 of the ABCA1 gene for alleles or genotypes. However, in the presence of the A risk allele of GAS7 rs9913911 and the G risk allele of ABCA1 rs2472493, an additive effect was observed (p = 0.0018; OR = 2.677; CI95% = 1.557-4.602).

Conclusions : Our study confirms the association of the rs9913911 (GAS7 gene) with POAG risk in a sample of the Brazilian population and an additive effect when rs9913911 (GAS7 gene) and rs2472493 (ABCA1gene) are analyzed simultaneously. This is an important finding for future diagnosis and treatment strategies for the Brazilian population. Further studies are needed to evaluate the frequency of these alleles based on ancestry analyses.

This is a 2021 ARVO Annual Meeting abstract.

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