New paper published in Cell brings diversity to glaucoma research
The Setia-Verma lab conducted a genome-wide association study (GWAS) detecting 46 risk loci associated with primary open-angle glaucoma (POAG).
POAG is a neurodegerative disease of the optic nerve that causes peripheral vision loss. This disease affects 44 million individuals worldwide. African ancestry populations are 5 times more likely as others to develop glaucoma, yet the genetics of the disease is still not fully understood. To address this knowledge gap, our study performed a mega-analysis comparing the genetic architecture of POAG in three African populations. We pinpointed 3 gene variants that may contribute to African populations’ susceptibility to developing POAG. Identification of these important loci allows us to further quantify the similarities and differences between African and non-African ancestry populations for this blinding disease, and brings diversity to genetic research.
Related Commentary in Cell: “Making glaucoma genetic studies more diversity”
“Without our focus on this specific ancestry group, these unique and critical insights might have remained lost, and we would not have been able to substantially enhance our understanding of the genetics behind primary open-angle glaucoma in this overaffected population.”
Press releases and news articles covering the publication:
Penn Medicine: “Mega-analysis identifies gene variants associated with glaucoma in people of African ancestry”
Science: “New risk genes for glaucoma identified in people of African ancestry”
Live Science: “Unique gene variants tied to glaucoma found in Black patients”
GenomeWeb: “New Glaucoma Risk Variants Emerge From GWAS of African Ancestry Individuals”
Inside Precision Medicine: “Glaucoma Genetics in African Ancestry Unveiled”
