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PMID: 20101282 Published · epublish English Journal Article Research Support, N.I.H., Extramural

AQP1 and SLC4A10 as candidate genes for primary open-angle glaucoma.

Molecular vision ·Vol. 16 ·2010-01-20 ·Pages 93-7

Liu W, Liu Y, Qin XJ, Schmidt S, Hauser MA, Allingham RR

Abstract

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. 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 the 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 gender. 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). 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.

MeSH Terms
Aquaporin 1/genetics Case-Control Studies Female Gene Frequency/genetics Glaucoma, Open-Angle/genetics Humans Male Middle Aged Polymorphism, Single Nucleotide/genetics Sodium-Bicarbonate Symporters/genetics
Chemicals
AQP1 protein, human SLC4A10 protein, human Sodium-Bicarbonate Symporters Aquaporin 1
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Liu Wenjing
Center for Human Genetics, Duke University Eye Center, Duke University Medical Center, Durham, NC 27710, USA.
Liu Yutao
Qin Xue-Jun
Schmidt Silke
Hauser Michael A
Allingham R Rand
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Article Info
Journal
Molecular vision
Abbr.
Mol Vis
ISSN
1090-0535
Published
2010-01-20
Epub
2010-00-20
Pages
93-7
Language
English
Region
United States
NLM ID
9605351
PMCID
PMC2810210
Subset
IM
Grants
NCRR NIH HHS · TL1RR024126 · United States
NEI NIH HHS · R01 EY015543 · United States
NEI NIH HHS · R01EY015543 · United States
NCRR NIH HHS · TL1 RR024126 · United States
NEI NIH HHS · R01EY019126 · United States
NEI NIH HHS · R01 EY013315 · United States
NEI NIH HHS · R01EY013315 · United States
NEI NIH HHS · R01 EY019126 · United States
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