An international genome-wide association study of more than 11,275 people, has found people of African descent have five times the risk of developing primary open-angle glaucoma (POAG) and up to 15 times the risk of being blinded by the disease, compared with people of European ancestry.
Central to researchers’ findings were three loci they associated with POAG risk. Variants mapping to the ROCK1P1 and DBF4P2 loci replicate in independent African ancestry datasets, while a third, previously undescribed locus, maps to the ARHGEF12 gene, which is associated with baseline cup-to-disc ratio (CDR), they said.
Writing in Cell, researchers said although their findings support the importance of considering population-specific effects when investigating the implications of genetic variants, as of 2019, just 2% of studies linking genetics to specific diseases have involved people of African ancestry. “The substantial differences in minor allele frequency for these two variants between African and non-African populations may have implications for disease risk assessment, drug response and population-specific genetic studies,” they wrote.
