Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort

Markus H Kuehn; Kai Wang; Ben Roos; Edwin M Stone; Young H Kwon; Wallace L M Alward; Robert F Mullins; John H Fingert

Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort

Journal article

Peer reviewed

Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort

Markus H Kuehn, Kai Wang, Ben Roos, Edwin M Stone, Young H Kwon, Wallace L M Alward, Robert F Mullins and John H Fingert

Molecular vision, Vol.17(47-48), pp.430-435

02/08/2011

PMCID: PMC3038208

PMID: 21321670

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Abstract

To determine the role of the recently discovered primary open angle glaucoma (POAG) risk factor mapped to chromosome 7q31 in glaucoma patients from Iowa and to determine the expression pattern of genes in the locus in human eyes. A cohort of 545 POAG patients and 297 control subjects from Iowa were genotyped with a single nucleotide polymorphism (SNP; rs4236601) in the chromosome 7q31 locus using a quantitative polymerase chain reaction (PCR) assay. The expression of genes within the 7q31 locus, caveolin-1 (CAV1) and caveolin-2 (CAV2) in human eyes was investigated with immunohistochemistry. The minor allele frequency (MAF) of rs4236601 was 27% in control subjects and 29% in POAG patients. We detected no statistical difference when we compared the allele frequencies of rs4236601 between POAG patients and control subjects (p=0.5). Similarly, we detected no statistical difference in the frequency of the three possible rs4236601 genotypes between patients and controls (p=0.22). Immunohistochemistry showed caveolin expression in human retina, ciliary muscle, trabecular meshwork, and Schlemm's canal. In our small cohort of donor eyes, the genotype of rs4236601 did not obviously influence labeling intensity or distribution of CAV1 and CAV2 in the retina. A genome-wide association study of subjects from Iceland mapped the first common genetic risk factor for POAG to a small region of the genome on chromosome 7q31 that contains the caveolin genes CAV1 and CAV2. We were unable to detect this association in our patients from Iowa, suggesting that this risk factor may not have a strong effect in all populations.

Glaucoma, Open-Angle - genetics

United States

Gene Frequency

Humans

Risk Factors

Glaucoma, Open-Angle - diagnosis

Caveolin 1 - genetics

Genotype

Models, Statistical

Caveolin 1 - biosynthesis

Chromosomes, Human, Pair 7

Immunohistochemistry - methods

Alleles

Polymerase Chain Reaction

Polymorphism, Single Nucleotide

Caveolin 2 - genetics

Caveolin 2 - biosynthesis

Cohort Studies

Details

Title: Subtitle: Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort
Creators: Markus H Kuehn - Department of Ophthalmology, The University of Iowa College of Medicine, Iowa City, IA 52242, USA
Kai Wang
Ben Roos
Edwin M Stone
Young H Kwon
Wallace L M Alward
Robert F Mullins
John H Fingert
Resource Type: Journal article
Publication Details: Molecular vision, Vol.17(47-48), pp.430-435
PMID: 21321670
PMCID: PMC3038208
NLM abbreviation: Mol Vis
ISSN: 1090-0535
eISSN: 1090-0535
Publisher: United States
Grant note: R01 EY019485 / NEI NIH HHS R01EY018825 / NEI NIH HHS R01EY019485 / NEI NIH HHS R01 EY018825 / NEI NIH HHS R01 EY018825-03 / NEI NIH HHS K08 EY017698 / NEI NIH HHS K08EY017698 / NEI NIH HHS
Language: English
Date published: 02/08/2011
Academic Unit: Iowa Neuroscience Institute; Biostatistics; Ophthalmology and Visual Sciences
Record Identifier: 9983980036102771

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