April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Aquaporin 1 and SLC4A10 as Candidate Genes for Primary Open-Angle Glaucoma
Author Affiliations & Notes
  • W. Liu
    Center for Human Genetics,
    Duke University Medical Center, Durham, North Carolina
  • Y. Liu
    Center for Human Genetics,
    Duke University Medical Center, Durham, North Carolina
  • X.-J. Qin
    Center for Human Genetics,
    Duke University Medical Center, Durham, North Carolina
  • S. Schmidt
    Center for Human Genetics,
    Duke University Medical Center, Durham, North Carolina
  • M. A. Hauser
    Center for Human Genetics,
    Duke University Medical Center, Durham, North Carolina
  • R. R. Allingham
    Department of Ophthalmology,
    Duke University Medical Center, Durham, North Carolina
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 2161. doi:
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    • Get Citation

      W. Liu, Y. Liu, X.-J. Qin, S. Schmidt, M. A. Hauser, R. R. Allingham; Aquaporin 1 and SLC4A10 as Candidate Genes for Primary Open-Angle Glaucoma. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2161.

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

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Abstract

Purpose: : Recent evidence supports the role of reduced cerebrospinal fluid (CSF) pressure in the pathogenesis of primary open-angle glaucoma (POAG). We investigated the association of variants in two candidate genes that are important in CSF production, aquaporin 1 (AQP1) and solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), with POAG in the Caucasian population.

Methods: : POAG subjects (n = 382) met the criteria of glaucomatous optic neuropathy with consistent visual field loss. Intraocular pressure was not used as an inclusion criterion. Control subjects (n = 363) did not meet any of these inclusion criteria and had no family history of glaucoma. Eleven tagging single nucleotide polymorphisms (SNPs) for AQP1 and SLC4A10 were genotyped in the POAG and control subjects using allelic discrimination assays. Genotype frequencies were compared between the POAG and control subjects using logistic regression adjusted for sex.

Results: : There was no statistically significant difference in genotype frequencies between POAG and control subjects for any of the tested SNPs in AQP1 and SLC4A10 (p > 0.05).

Conclusions: : There was no association between common sequence variants in the AQP1 or SLC4A10 genes and POAG in the Caucasian population. This is the first study to investigate the association between these two candidate genes and increased risk for POAG.

Keywords: candidate gene analysis • genetics 
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