ArticleMolecular vision2012
Lack of association of SNP rs4236601 near CAV1 and CAV2 with POAG in a Saudi cohort.
Article in Molecular vision, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 29 citations in OpenAlex.
- Association of endothelial nitric oxide synthase (NOS3) gene polymorphisms with primary open-angle glaucoma in a Saudi cohort.PloS one · 2020Trial
- Endothelial cell-specific postnatal deletion of Nos3 preserves intraocular pressure homeostasis via macrophage recruitment and NOS2 upregulation.The Journal of clinical investigation · 2025Article
- Review
- Polymorphisms rs693421 and rs2499601 at locus 1q43 and their haplotypes are not associated with primary open-angle glaucoma: a case-control study.BMC research notes · 2019Article
- A Multi-Locus Genetic Risk Score for Primary Open-Angle Glaucoma (POAG) Variants Is Associated with POAG Risk in a Mediterranean Population: Inverse Correlations with Plasma Vitamin C and E Concentrations.International journal of molecular sciences · 2017Article
- Polymorphism rs547984 on human chromosome 1q43 is not associated with primary open angle glaucoma in a Saudi cohort.Journal of negative results in biomedicine · 2017Article
- Caveolins and caveolae in ocular physiology and pathophysiology.Progress in retinal and eye research · 2017Review
- Polymorphism rs7555523 in transmembrane and coiled-coil domain 1 (TMCO1) is not a risk factor for primary open angle glaucoma in a Saudi cohort.Journal of negative results in biomedicine · 2016Article
- An Updated Review on the Genetics of Primary Open Angle Glaucoma.International journal of molecular sciences · 2015Review
- Expression-associated polymorphisms of CAV1-CAV2 affect intraocular pressure and high-tension glaucoma risk.Molecular vision · 2015Article
- Differential effects of caveolin-1 and -2 knockdown on aqueous outflow and altered extracellular matrix turnover in caveolin-silenced trabecular meshwork cells.Investigative ophthalmology & visual science · 2014Article
- Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss.Ophthalmology · 2014Article
- Genetics of primary open angle glaucoma.Japanese journal of ophthalmology · 2014Review
- Association of apolipoprotein E-219T>G promoter polymorphism with primary open angle glaucoma in Turkish population.International journal of ophthalmology · 2014Article
- Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry.Investigative ophthalmology & visual science · 2013Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo determine the role of the recently discovered primary open angle glaucoma (POAG) single nucleotide polymorphism (SNP) rs4236601 near the caveolin-1 (CAV1) and CAV2 among patients and controls from Saudi Arabia.
methodsA cohort of 220 POAG patients and 405 control subjects from Saudi Arabia were genotyped for a SNP (rs4236601;g.2891 G>A) in the chromosome 7q31 locus near CAV1 and CAV2 using a standard polymerase chain reaction (PCR) and sequencing method.
resultsThe minor allele frequency (MAF) of rs4236601 was 0.3 in controls and 0.31 in POAG patients. We detected no statistical difference when we compared the allele frequencies between POAG patients and control subjects (p=0.699). Similarly, we detected no statistical difference in the frequency of the three possible rs4236601 genotypes between patients and controls. The p-values were 0.928 and 0.683 for heterozygous genotype (G/A) and homozygous mutant genotype (A/A), respectively. We found no statistically significant difference among patients with any of the three possible genotypes and various clinical indices important for glaucoma. Among patients with homozygous (A/A), the mean IOP was higher (21.4) compared to patients with G/G wildtype (20.4) and to patients with G/A genotype (18.5). However, this apparent difference did not reach the statistical significance threshold (p=0.062).
conclusionsWe were unable to detect this association in our POAG-patients from Saudi Arabia, suggesting that this risk factor may not have a strong effect in all populations. A founder effect may play a role in certain populations where the link was established.
Indexed as
Identifiers
22876122PMC3413415W1567321165What OpenQuestion holds
Registered trials
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