ArticleProceedings of the National Academy of Sciences of the United States of America2009
Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Common genetic determinants of intraocular pressure and primary open-angle glaucoma.PLoS genetics · 2012Pooled it
- EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.Human mutation · 2022Article
- The African Descent and Glaucoma Evaluation Study (ADAGES) III: Contribution of Genotype to Glaucoma Phenotype in African Americans: Study Design and Baseline Data.Ophthalmology · 2019Article
- Primary Open-Angle Glaucoma Genetics in African Americans.Current genetic medicine reports · 2017Article
- Additive effects of genetic variants associated with intraocular pressure in primary open-angle glaucoma.PloS one · 2017Article
- Risk factors for open-angle glaucoma in Nigeria: results from the Nigeria National Blindness and Visual Impairment Survey.BMC ophthalmology · 2016Article
- The genetics of POAG in black South Africans: a candidate gene association study.Scientific reports · 2015Article
- Article
- Article
- Genetics of primary open angle glaucoma.Japanese journal of ophthalmology · 2014Review
- Prevalence of glaucoma in an urban West African population: the Tema Eye Survey.JAMA ophthalmology · 2013Article
- CDKN2B polymorphism is associated with primary open-angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies.PloS one · 2012Article
- Article
- SNP rs1533428 at 2p16.3 as a marker for late-onset primary open-angle glaucoma.Molecular vision · 2012Article
- Racial differences in ocular oxidative metabolism: implications for ocular disease.Archives of ophthalmology (Chicago, Ill. : 1960) · 2011Article
- Analysis of an extended chromosome locus 2p14-21 for replication of the 2p16.3 association with glaucoma susceptibility.Molecular vision · 2011Article
- Myocilin mutations among POAG patients from two populations of Tamil Nadu, South India, a comparative analysis.Molecular vision · 2011Article
- Complex genetic mechanisms in glaucoma: an overview.Indian journal of ophthalmology · 2011Review
- Evaluation of SPARC as a candidate gene of juvenile-onset primary open-angle glaucoma by mutation and copy number analyses.Molecular vision · 2010Article
- Glaucoma: genes, phenotypes, and new directions for therapy.The Journal of clinical investigation · 2010Review
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26 authors at 9 institutions in 5 countries.
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Abstract
Primary open-angle glaucoma (POAG) is the second leading cause of blindness worldwide. Although a number of genetic loci have shown association or genetic linkage to monogenic forms of POAG, the identified genes and loci do not appear to have a major role in the common POAG phenotype. We seek to identify genetic loci that appear to be major risk factors for POAG in the Afro-Caribbean population of Barbados, West Indies. We performed linkage analyses in 146 multiplex families ascertained through the Barbados Family Study of Glaucoma (BFSG) and identified a strong linkage signal on chromosome 2p (logarithm of odds score = 6.64 at = 0 with marker D2S2156). We subsequently performed case-control analyses using unrelated affected individuals and unaffected controls. A set of SNPs on chromosome 2p was evaluated in two independent groups of BFSG participants, a discovery group (130 POAG cases, 65 controls) and a replication group (122 POAG cases, 65 controls), and a strong association was identified with POAG and rs12994401 in both groups (P < 3.34 E-09 and P < 1.21E-12, respectively). The associated SNPs form a common disease haplotype. In summary, we have identified a locus with a major impact on susceptibility to the common POAG phenotype in an Afro-Caribbean population in Barbados. Our approach illustrates the merit of using an isolated population enriched with common disease variants as an efficient method to identify genetic underpinning of POAG.
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