A recent study presented at AAO 2024 leveraged the All of Us research program to explore genetic risk factors for primary open-angle glaucoma (POAG), aiming to inform early intervention strategies for preventing blindness. Unlike previous studies that primarily focused on individuals of European ancestry, this study incorporated a more diverse population.
Researchers were able to identify new genetic risk factors for POAG across diverse populations, particularly highlighting 2 novel genetic associations.
The research involved a genome-wide association study (GWAS) with 2,857 cases of POAG and 233,297 controls. Logistic regression adjusted for sex, ethnicity, and ancestry was used to analyze the data, with separate analyses conducted for multiancestry and African ancestry groups.
Key Findings
- The study confirmed the association of POAG with the gene TMCO1, a previously known POAG gene.
- Two novel genetic associations were identified: LOC124901810 on chromosome 7 and CCDC7 on chromosome 10.
- Additional genetic signals were detected on chromosomes 1, 5, 11, and 22, though no corresponding genes were identified.
- In the African ancestry analysis, EPHA5, ESRRG, and SLC16A7 were highlighted as potential new candidates for POAG risk.
Reference
Tavakoli K, et al. Multiancestry Genome-Wide Association Study in the All of Us Data Set for POAG. Poster presented at: American Academy of Ophthalmology Annual Meeting; October 2024; Chicago.
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