Journal article
HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement
S Farashi, CJ Abbott, BRE Ansell, Z Wu, L Altay, E Arnon, L Arnould, Y Bagdasarova, K Balaskas, FK Chen, E Chew, I Chowers, S Clarke, C Cukras, C Delcourt, MN Delyfer, AI den Hollander, S Fauser, RP Finger, PH Gabrielle Show all
Nature Communications | Published : 2025
Abstract
Age-related macular degeneration (AMD) is a multifactorial retinal disease with a large genetic risk contribution. Reticular pseudodrusen (RPD) is a sub-phenotype of AMD with a high risk of progression to late vision threatening AMD. In a genome-wide association study of 2165 AMD+/RPD+ and 4181 AMD+/RPD- compared to 7639 control participants, both chromosomes 1 (CFH) and 10 (ARMS2/HTRA1) major AMD risk loci are reidentified. However association is only detected for the chromosome 10 locus when comparing AMD+/RPD+ to AMD+/RPD- cases. The chromosome 1 locus is notably absent. The chromosome 10 RPD risk region contains a long non-coding RNA HTRA1-AS1 (ENSG00000285955/BX842242.1) which colocaliz..
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Awarded by NEI NIH HHS
Awarded by Department of Health | National Health and Medical Research Council (NHMRC)
Awarded by U.S. Department of Health & Human Services | NIH | National Eye Institute (NEI)
Awarded by Department of Health, State Government of Victoria (Victorian Department of Health)