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DOI 10.1038/s41467-025-65903-9

Медицинская библиотека · Nature communications · 2025

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

Farashi Samaneh, Abbott Carla J, Ansell Brendan R E, Wu Zhichao, Altay Lebriz, Arnon Ella, Arnould Louis, Bagdasarova Yelena, Balaskas Konstantinos, Chen Fred K, Chew Emily, Chowers Itay, Clarke Steven, Cukras Catherine, Delcourt Cécile, Delyfer Marie-Noëlle, den Hollander Anneke I, Fauser Sascha, Finger Robert P, Gabrielle Pierre-Henry, Han Jiru, Hodgson Lauren A B, Hogg Ruth, Holz Frank G, Hoyng Carel, Kumar Himeesh, Lad Eleonora M, Lee Aaron, Luhmann Ulrich F O, Mauschitz Matthias M, McKnight Amy J, McLenachan Samuel, Mishra Aniket, Moghul Ismail, Orozco Luz D, Sampson Danuta M, Scott Liam W, Sitnilska Vasilena, Song Scott, Stockwell Amy, Swaroop Anand, Terheyden Jan H, Tiosano Liran, Tufail Adnan, Yaspan Brian L, MACUSTAR consortium, NICOLA consortium, Pébay Alice, Fletcher Erica L, Guymer Robyn H, Bahlo Melanie, Reticular Pseudodrusen Consortium

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Аннотация

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.

Для цитирования: Farashi Samaneh, Abbott Carla J, Ansell Brendan R E, Wu Zhichao, Altay Lebriz, Arnon Ella, Arnould Louis, Bagdasarova Yelena, Balaskas Konstantinos, Chen Fred K, Chew Emily, Chowers Itay, Clarke Steven, Cukras Catherine, Delcourt Cécile, Delyfer Marie-Noëlle, den Hollander Anneke I, Fauser Sascha, Finger Robert P, Gabrielle Pierre-Henry, Han Jiru, Hodgson Lauren A B, Hogg Ruth, Holz Frank G, Hoyng Carel, Kumar Himeesh, Lad Eleonora M, Lee Aaron, Luhmann Ulrich F O, Mauschitz Matthias M, McKnight Amy J, McLenachan Samuel, Mishra Aniket, Moghul Ismail, Orozco Luz D, Sampson Danuta M, Scott Liam W, Sitnilska Vasilena, Song Scott, Stockwell Amy, Swaroop Anand, Terheyden Jan H, Tiosano Liran, Tufail Adnan, Yaspan Brian L, MACUSTAR consortium, NICOLA consortium, Pébay Alice, Fletcher Erica L, Guymer Robyn H, Bahlo Melanie, Reticular Pseudodrusen Consortium. HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement.. Nature communications. 2025. DOI: 10.1038/s41467-025-65903-9.

Предметные рубрики MeSH

HumansHigh-Temperature Requirement A Serine Peptidase 1Macular DegenerationGenetic Predisposition to DiseaseGenome-Wide Association StudyAgedMaleFemaleRNA, Long NoncodingPolymorphism, Single NucleotideRetinaRetinal DrusenChromosomes, Human, Pair 10Chromosomes, Human, Pair 1Quantitative Trait LociMiddle AgedAged, 80 and overProteins
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