Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration
Aaron M. Holleman, Aimée M. Deaton, Rachel A. Hoffing, Lynne Krohn, Philip J. LoGerfo, Paul Nioi, Mollie E. Plekan, Sebastian Akle Serrano, Simina Ticau, Tony E. Walshe, Anna Borodovsky, Lucas D. Ward
The paper identifies rare variants in CFHR5 associated with reduced risk of AMD and increased retinal thickness, suggesting CFHR5 as a therapeutic target.
medRxiv · Nov 13, 2024 · PreprintGenetic & Genomic Medicine