A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma. (https://pubmed.ncbi.nlm.nih.gov/38242088/)
These scientists wanted to understand why a certain eye disease called primary open-angle glaucoma (POAG) affects more people of African ancestry than other groups. They studied the genes of 11,275 individuals with African ancestry, including 6,003 people who had POAG and 5,272 people who did not have the disease.
The scientists found 46 areas in the genes that were linked to a higher risk of developing POAG. They did this by comparing the genes of people with the disease to those without it. They also used different methods to confirm their findings, like looking at how these genes function and testing them in computer simulations.
In their study, the scientists discovered two new gene variants (which are like different versions of a gene) that had not been seen before in relation to POAG. They also confirmed that one gene variant they already knew about was indeed connected to the disease.
Interestingly, the scientists found that a genetic score based on the African ancestry individuals' genes was more accurate in predicting the risk of developing POAG than a score based on a larger study done on people with European ancestry.
Overall, this study helps us better understand how genes contribute to POAG in people of African ancestry and how it differs from other populations.
Verma SS., Gudiseva HV., Chavali VRM., Salowe RJ., Bradford Y., Guare L., Lucas A., Collins DW., Vrathasha V., Nair RM., Rathi S., Zhao B., He J., Lee R., Zenebe-Gete S., Bowman AS., McHugh CP., Zody MC., Pistilli M., Khachatryan N., Daniel E., Murphy W., Henderer J., Kinzy TG., Iyengar SK., Peachey NS., Taylor KD., Guo X., Chen YI., Zangwill L., Girkin C., Ayyagari R., Liebmann J., Chuka-Okosa CM., Williams SE., Akafo S., Budenz DL., Olawoye OO., Ramsay M., Ashaye A., Akpa OM., Aung T., Wiggs JL., Ross AG., Cui QN., Addis V., Lehman A., Miller-Ellis E., Sankar PS., Williams SM., Ying GS., Cooke Bailey J., Rotter JI., Weinreb R., Khor CC., Hauser MA., Ritchie MD., O'Brien JM. A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma. Cell. 2024 Jan 18;187(2):464-480.e10. doi: 10.1016/j.cell.2023.12.006.