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HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement

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+...

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Main Authors: Farashi, Samaneh (Author) , Abbott, Carla J. (Author) , Ansell, Brendan R. E. (Author) , Wu, Zhichao (Author) , Altay, Lebriz (Author) , Arnon, Ella (Author) , Arnould, Louis (Author) , Bagdasarova, Yelena (Author) , Balaskas, Konstantinos (Author) , Chen, Fred K. (Author) , Chew, Emily (Author) , Chowers, Itay (Author) , Clarke, Steven (Author) , Cukras, Catherine (Author) , Delcourt, Cécile (Author) , Delyfer, Marie-Noëlle (Author) , den Hollander, Anneke I. (Author) , Fauser, Sascha (Author) , Finger, Robert P. (Author) , Gabrielle, Pierre-Henry (Author) , Han, Jiru (Author) , Hodgson, Lauren A. B. (Author) , Hogg, Ruth (Author) , Holz, Frank G. (Author) , Hoyng, Carel (Author) , Kumar, Himeesh (Author) , Lad, Eleonora M. (Author) , Lee, Aaron (Author) , Luhmann, Ulrich F. O. (Author) , Mauschitz, Matthias M. (Author) , McKnight, Amy J. (Author) , McLenachan, Samuel (Author) , Mishra, Aniket (Author) , Moghul, Ismail (Author) , Orozco, Luz D. (Author) , Sampson, Danuta M. (Author) , Scott, Liam W. (Author) , Sitnilska, Vasilena (Author) , Song, Scott (Author) , Stockwell, Amy (Author) , Swaroop, Anand (Author) , Terheyden, Jan H. (Author) , Tiosano, Liran (Author) , Tufail, Adnan (Author) , Yaspan, Brian L. (Author) , Pébay, Alice (Author) , Fletcher, Erica L. (Author) , Guymer, Robyn H. (Author) , Bahlo, Melanie (Author)
Format: Article (Journal)
Language:English
Published: 08 December 2025
In: Nature Communications
Year: 2025, Volume: 16, Pages: 1-16
ISSN:2041-1723
DOI:10.1038/s41467-025-65903-9
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1038/s41467-025-65903-9
Verlag, kostenfrei, Volltext: https://www.nature.com/articles/s41467-025-65903-9
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Author Notes:Samaneh Farashi, Carla J. Abbott, Brendan R.E. Ansell, Zhichao Wu, Lebriz Altay, Ella Arnon, Louis Arnould, Yelena Bagdasarova, Konstantinos Balaskas, Fred K. Chen, Emily Chew, Itay Chowers, Steven Clarke, Catherine Cukras, Cécile Delcourt, Marie-Noëlle Delyfer, Anneke I. den Hollander, Sascha Fauser, Robert P. Finger, Pierre-Henry Gabrielle, Jiru Han, Lauren A.B. Hodgson, Ruth Hogg, Frank G. Holz, Carel Hoyng, Himeesh Kumar, Eleonora M. Lad, Aaron Lee, Ulrich F.O. Luhmann, Matthias M. Mauschitz, Amy J. McKnight, Samuel McLenachan, Aniket Mishra, Ismail Moghul, Luz D. Orozco, Danuta M. Sampson, Liam W. Scott, Vasilena Sitnilska, Scott Song, Amy Stockwell, Anand Swaroop, Jan H. Terheyden, Liran Tiosano, Adnan Tufail, Brian L. Yaspan, Alice Pébay, Erica L. Fletcher, Robyn H. Guymer & Melanie Bahlo, on behalf of the Reticular Pseudodrusen Consortium

MARC

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520 |a 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 colocalizes with genetic markers of retinal thickness. HTRA1-AS1 has a strong retinal eQTL signal, pinpointing the parafoveal photoreceptor outer segment layer. Whole genome sequencing of phenotypically extreme RPD cases identifies even stronger enrichment for the chromosome 10 risk genotype. 
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