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<p>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 (<i>CFH</i>) and 10 (<i>ARMS2/HTRA1</i>) 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 <i>HTRA1-AS1</i> (<i>ENSG00000285955/BX842242.1</i>) which colocalizes with genetic markers of retinal thickness. <i>HTRA1-AS1</i> 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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月8日

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  • 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,
  • L. Altay,
  • A. Tufail,
  • C. B. Hoyng,
  • U. F. O. Luhmann,
  • R. P. Finger,
  • F. G. Holz,
  • J. H. Terheyden,
  • R. Hogg,
  • A. J. McKnight,
  • Alice Pébay,
  • Erica L. Fletcher,
  • Robyn H. Guymer,
  • Melanie Bahlo,
  • Anneke I. den Hollander

摘要

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.