June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
Association Study of Multiple Gene Polymorphisms with the Risk of Adult-Onset Primary Open-Angle Glaucoma in a Mexican Population
Author Affiliations & Notes
  • Jesus Cabral
    RESEARCH UNIT GENETICS, INSTITUTE OF OPHTALMOLOGY CONDE DE VALENCIANA, Mexico City, Mexico
  • Beatriz Buentello
    RESEARCH UNIT GENETICS, INSTITUTE OF OPHTALMOLOGY CONDE DE VALENCIANA, Mexico City, Mexico
  • Dalia Guadarrama
    RESEARCH UNIT GENETICS, INSTITUTE OF OPHTALMOLOGY CONDE DE VALENCIANA, Mexico City, Mexico
  • Juan Zenteno
    RESEARCH UNIT GENETICS, INSTITUTE OF OPHTALMOLOGY CONDE DE VALENCIANA, Mexico City, Mexico
    DEPARTMENT OF BIOCHEMISTRY, NATIONAL AUTONOMOUS UNIVERSITY OF MEXICO, Mexico City, Mexico
  • Celia Elizondo
    GLAUCOMA DEPARTMENT, INSTITUTE OF OPHTALMOLOGY CONDE DE VALENCIANA, Mexico City, Mexico
  • Antonio Miranda
    DEPARTMENT OF GENETICS, NATIONAL INSTITUTE OF REHABILITATION, Mexico City, Mexico
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 6232. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Jesus Cabral, Beatriz Buentello, Dalia Guadarrama, Juan Zenteno, Celia Elizondo, Antonio Miranda; Association Study of Multiple Gene Polymorphisms with the Risk of Adult-Onset Primary Open-Angle Glaucoma in a Mexican Population. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6232.

      Download citation file:


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

      ×
  • Supplements
Abstract

Purpose: The purpose of this work was to investigate the association of multiple primary open-angle glaucoma (POAG) risk alleles in a Mexican population.

Methods: A total of 26 well-known associated alleles located in 11 different genes, including MYOC, CYP1B1, OPTN, IL-1A, TNF, OPA1, EDNRA, AGTR2, MTHFR, GSTM1, and GSTT1 were genotyped. Frequencies of these variants were compared in a group of 218 individuals (118 with POAG and 100 healthy controls). DNA was extracted from blood leukocytes, and genotyping was performed using PCR as well as direct sequencing. Comparisons of continuous variables were tested by Student’s t-test, and corrected chi-squared statistics were applied for categorical variables.

Results: Individual SNP analysis showed that no specific variants are related to an elevated risk for developing POAG. Nevertheless, CG genotype for rs5335 polymorphism in EDNRA provides an estimated odds ratio of 0.5 (95% CI, 0.3-0.9; p=0.03), displaying a protective effect against the development of POAG. Moreover, the association with a protective effect against POAG of one haplotype, consisting of rs1056827 and rs100012 in CYP1B1 gene, was statistically significant (p=0.0045; OR=0.3; 95% CI, 0.1-0.7).

Conclusions: This is the first case-control study of POAG-risk alleles for multiple genes in a Latino population. Our results show a protective effect conferred by EDNRA rs5335, and a CYP1B1 haplotype consisting of rs1056827 and rs100012. This investigation emphasizes the importance of genotyping distinct POAG ethnic groups.

Keywords: 539 genetics • 537 gene screening • 629 optic nerve  
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×