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Key Points Question What are the independent and combined associations of the 2 most common genetic risk loci for age-related macular degeneration (AMD)—chromosomes 1 (CFH-CFHR5) and 10 (ARMS2/HTRA1)—with disease progression?… Click to show full abstract
Key Points Question What are the independent and combined associations of the 2 most common genetic risk loci for age-related macular degeneration (AMD)—chromosomes 1 (CFH-CFHR5) and 10 (ARMS2/HTRA1)—with disease progression? Findings This case series study of 502 individuals found that, after adjusting for age and baseline AMD severity, compared with individuals with 2 risk alleles exclusively at CFH-CFHR5, the time to conversion to late-stage disease was shortest among carriers of 2 risk alleles at each of the ARMS2/HTRA1 and CFH-CFHR5 loci, followed by individuals with 2 risk alleles exclusively at ARMS2/HTRA1. Meaning These results suggest that the differential association of the 2 major genetic risk loci with disease progression may be substantial and may warrant consideration in AMD clinical research.
Journal Title: JAMA Ophthalmology
Year Published: 2022
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