AI Article Synopsis
- The study investigates the link between autosomal ancestry and the risk of primary open-angle glaucoma (POAG) in African Americans, highlighting it as a major cause of blindness in this population.
- It involves a large cohort of participants, utilizing methods like genetic testing and principal component analysis to explore ancestry and admixture, revealing that individuals with higher African ancestry tend to have a higher risk of POAG and thinner corneal thickness.
- The findings suggest that while genetic factors play a role in POAG risk, further research should look into social and environmental influences that may also contribute to the development of the disease.
Article Abstract
Purpose: POAG is the leading cause of irreversible blindness in African Americans. In this study, we quantitatively assess the association of autosomal ancestry with POAG risk in a large cohort of self-identified African Americans.
Methods: Subjects recruited to the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study were classified as glaucoma cases or controls by fellowship-trained glaucoma specialists. POAAGG subjects were genotyped using the MEGA Ex array (discovery cohort, n = 3830; replication cohort, n = 2135). Population structure was interrogated using principal component analysis in the context of the 1000 Genomes Project superpopulations.
Results: The majority of POAAGG samples lie on an axis between African and European superpopulations, with great variation in admixture. Cases had a significantly lower mean value of the ancestral component q0 than controls for both cohorts (P = 6.14-4; P = 3-6), consistent with higher degree of African ancestry. Among POAG cases, higher African ancestry was also associated with thinner central corneal thickness (P = 2-4). Admixture mapping showed that local genetic ancestry was not a significant risk factor for POAG. A polygenic risk score, comprised of 23 glaucoma-associated single nucleotide polymorphisms from the NHGRI-EBI genome-wide association study catalog, was significant in both cohorts (P < 0.001), suggesting that both known POAG single nucleotide polymorphisms and an omnigenic ancestry effect influence POAG risk.
Conclusions: In sum, the POAAGG study population is very admixed, with a higher degree of African ancestry associated with an increased POAG risk. Further analyses should consider social and environmental factors as possible confounding factors for disease predisposition.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7900887 | PMC |
| http://dx.doi.org/10.1167/iovs.62.2.28 | DOI Listing |
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