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


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.
Liu
Wenjing
W
Center for Human Genetics, Duke University Eye Center, Duke University Medical Center, Durham, NC 27710, USA.
Liu
Yutao
Y
Qin
Xue-Jun
XJ
Schmidt
Silke
S
Hauser
Michael A
MA
Allingham
R Rand
RR
D051398:Aquaporin 1 / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D027982:Sodium-Bicarbonate Symporters / Q000235:genetics*
C496020:AQP1 protein, human; C529475:SLC4A10 protein, human; D027982:Sodium-Bicarbonate Symporters; D051398:Aquaporin 1