ArticleInvestigative ophthalmology & visual science2013
Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry.
Article in Investigative ophthalmology & visual science, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 5 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
48 citing papers in PubMed, 5 syntheses or guidelines pooled it, 83 citations in OpenAlex.
- Pooled it
- Genetic association between CDKN2B-AS1 polymorphisms and the susceptibility of primary open-angle glaucoma (POAG): a meta-analysis from 21,775 subjects.Irish journal of medical science · 2022Pooled it
- Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.Nature communications · 2021Pooled it
- Genetic association between CDKN2B/CDKN2B-AS1 gene polymorphisms with primary glaucoma in a North Indian cohort: an original study and an updated meta-analysis.BMC medical genomics · 2021Pooled it
- CDKN2B gene rs1063192 polymorphism decreases the risk of glaucoma.Oncotarget · 2017Pooled it
- Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.Human genetics · 2018Trial
- Transcending genome-wide association studies to create useful multi-omic views of glaucoma.Progress in retinal and eye research · 2026Review
- Endothelial cell-specific postnatal deletion of Nos3 preserves intraocular pressure homeostasis via macrophage recruitment and NOS2 upregulation.The Journal of clinical investigation · 2025Article
- A Single-Center Case-Control Study of Glaucoma Severity on Initial Presentation in Haitian Americans.Clinical ophthalmology (Auckland, N.Z.) · 2025Article
- Article
- Paving the way while playing catch up: mitochondrial genetics in African ancestry primary open-angle glaucoma.Frontiers in ophthalmology · 2023Article
- Review
- Caveolar and non-Caveolar Caveolin-1 in ocular homeostasis and disease.Progress in retinal and eye research · 2022Review
- Association of the SNP rs112369934 nearGenes · 2021Article
- The Role of Genetic Ancestry as a Risk Factor for Primary Open-angle Glaucoma in African Americans.Investigative ophthalmology & visual science · 2021Article
- Mitochondrial Genome Study Identifies Association Between Primary Open-Angle Glaucoma and Variants inFrontiers in genetics · 2021Article
- Review
- Article
- Evaluation of a multimedia marketing campaign to engage African American patients in glaucoma screening.Preventive medicine reports · 2020Article
- Clinical implications of recent advances in primary open-angle glaucoma genetics.Eye (London, England) · 2020Review
Corrections and comments
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Authors and funding
20 authors at 8 institutions in 2 countries.
Funding
Abstract
purposeMultiple genes have been associated with primary open angle glaucoma (POAG) in Caucasian populations. We now examine the association of these loci in populations of African ancestry, populations at particularly high risk for POAG.
methodsWe genotyped DNA samples from two populations: African American (1150 cases and 999 controls) and those from Ghana, West Africa (483 cases and 593 controls). Our analysis included 57 single nucleotide polymorphisms (SNPs) in five loci previously associated with POAG at the genome-wide level, including CDKN2B-AS1, TMCO1, CAV1/CAV2, chromosome 8q22 intergenic region, and SIX1/SIX6. We evaluated association in the full datasets, as well as subgroups with normal pressure glaucoma (NPG, maximum IOP ≤21 mm Hg) and high pressure glaucoma (HPG, IOP >21 mm Hg).
resultsIn African Americans, we identified an association of rs10120688 in the CDNK2B-AS1 region with POAG (P = 0.0020). Several other SNPs were nominally associated, but did not survive correction for multiple testing. In the subgroup analyses, significant associations were identified for rs10965245 (P = 0.0005) in the CDKN2B-AS1 region with HPG and rs11849906 in the SIX1/SIX6 region with NPG (P = 0.006). No significant association was identified with any loci in the Ghanaian samples.
conclusionsPOAG genetic susceptibility alleles associated in Caucasians appear to play a greatly reduced role in populations of African ancestry. Thus, the major genetic components of POAG of African origin remain to be identified. This finding underscores the critical need to pursue large-scale genome-wide association studies in this understudied, yet disproportionately affected population.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.