June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
TXNRD2 and CDKN2B-AS1 gene polymorphisms in patients with Primary Open-Angle Glaucoma
Author Affiliations & Notes
  • Artur Lins Tenório
    Recife Eye Institute, Recife, Brazil
    Ophtalmology, Federal University of Pernambuco, Recife, Brazil
  • Rodrigo Feliciano do Carmo
    Federal University of São Francisco Valley, Petrolina, Brazil
  • Rodrigo Pessoa Cavalcanti Lira
    Ophtalmology, Federal University of Pernambuco, Recife, Brazil
  • Roberto Pedrosa Galvao Filho
    Recife Eye Institute, Recife, Brazil
  • Pedro Teixeira Falcão Neto
    Recife Eye Institute, Recife, Brazil
  • Rinalva Tenório Vaz
    Santa Luzia Eye Hospital, Recife, Brazil
  • Walter Lins Barbosa Junior
    Reserch Center Aggeu Magalhães, Recife, Brazil
  • Lucas de Lucena Simoes e Silva
    Reserch Center Aggeu Magalhães, Recife, Brazil
  • Raul Emidio de Lima
    Reserch Center Aggeu Magalhães, Recife, Brazil
  • André Lins Tenório
    University of Pernambuco, Recife, Brazil
  • Claudia Miranda Ferreira Figueiroa
    University of Pernambuco, Recife, Brazil
  • Isabela Cristina Araujo de Macedo
    University of Pernambuco, Recife, Brazil
  • Julia Nogueira Guedes Monteiro
    University of Pernambuco, Recife, Brazil
  • Gustavo Henrique Alcântra Batista Melo
    University of Pernambuco, Recife, Brazil
  • Vitor Cursino Lima
    University of Pernambuco, Recife, Brazil
  • Luydson Richardson Vasconcelos
    Reserch Center Aggeu Magalhães, Recife, Brazil
  • Footnotes
    Commercial Relationships   Artur Tenório, None; Rodrigo do Carmo, None; Rodrigo Lira, None; Roberto Galvao Filho, None; Pedro Falcão Neto, None; Rinalva Vaz, None; Walter Barbosa Junior, None; Lucas e Silva, None; Raul de Lima, None; André Tenório, None; Claudia Figueiroa, None; Isabela de Macedo, None; Julia Monteiro, None; Gustavo Melo, None; Vitor Lima, None; Luydson Vasconcelos, None
  • Footnotes
    Support  none
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 4913. doi:
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      Artur Lins Tenório, Rodrigo Feliciano do Carmo, Rodrigo Pessoa Cavalcanti Lira, Roberto Pedrosa Galvao Filho, Pedro Teixeira Falcão Neto, Rinalva Tenório Vaz, Walter Lins Barbosa Junior, Lucas de Lucena Simoes e Silva, Raul Emidio de Lima, André Lins Tenório, Claudia Miranda Ferreira Figueiroa, Isabela Cristina Araujo de Macedo, Julia Nogueira Guedes Monteiro, Gustavo Henrique Alcântra Batista Melo, Vitor Cursino Lima, Luydson Richardson Vasconcelos; TXNRD2 and CDKN2B-AS1 gene polymorphisms in patients with Primary Open-Angle Glaucoma. Invest. Ophthalmol. Vis. Sci. 2017;58(8):4913.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose :

Recent studies have demonstrated association between single nucleotide polymorphisms (SNPs) in TXNRD2 and CDKN2B-AS1 genes and primary open angle glaucoma (POAG) in some populations. This is the first study to determine the frequency of these SNPs in a Brazilian’s population with POAG.

Methods : We performed a retrospective, case-control study to confirm the association between the rs35934224 (TXNRD2) and rs7866783 (CDKN2B-AS1) and POAG in a population from the northeast region of Brazil. A total of 156 individuals were enrolled, being 87 cases with POAG (43 males and 44 females) and 73 controls (27males and 46 females) from the Recife Eye Institute. Mean age was 67,5 years for cases and 67,7 years for controls. Cases were primarily defined as individuals with at least one reliable visual field showing vision loss consistent with glaucoma or documented progression of optic nerve degeneration by OCT-Spectralis, with Cup-to-Disc ratio ≥0.7. Controls had CDR <0.6, IOP <17 mmHg and family history negative for glaucoma. Genomic DNA was isolated using commercially available kits and detection of the SNPs was done by Real Time PCR using TaqMan probes. Differences in the frequency distribution between the groups were analyzed using the chi-squared test or Fisher’s exact test when appropriate.

Results : Individuals with POAG had a higher frequency of the CC genotype (rs35934224) in the TXNRD2 gene than controls (71.0% vs. 61.1%, p=0.18). The C allele presented similar distribution (84.3% vs. 80.5%, p=0.38). Regarding the rs7866783 in the CDKN2B-AS1 gene, the GG genotype was more prevalent in individuals with POAG (67.8% vs. 63.0%, p=0.52). The G allele was equally distributed (82.1% vs. 78.7%, p=0.44).

Conclusions : No association was observed between the CC and GG risk genotypes in the TXNRD2 and CDKN2B-AS1 genes, respectively, with POAG in Brazilian patients. Further studies are needed to confirm these results in a larger cohort.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.

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