June 2023
Volume 64, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2023
Association of age-related macular degeneration (AMD) retinal biomarkers with AMD polygenic risk scores in the MACUSTAR study cohort
Author Affiliations & Notes
  • Jan Henrik Terheyden
    Department of Ophthalmology, Universitatsklinikum Bonn, Bonn, Nordrhein-Westfalen, Germany
  • Charlotte Behning
    Institute of Medical Biometry, Informatics and Epidemiology, Medical Faculty, Universitatsklinikum Bonn, Bonn, Nordrhein-Westfalen, Germany
  • Marlene Sassmannshausen
    Department of Ophthalmology, Universitatsklinikum Bonn, Bonn, Nordrhein-Westfalen, Germany
  • sarah thiele
    Department of Ophthalmology, Universitatsklinikum Bonn, Bonn, Nordrhein-Westfalen, Germany
  • Steffen Schmitz-Valckenberg
    John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah Hospital, Salt Lake City, Utah, United States
    Department of Ophthalmology, Universitatsklinikum Bonn, Bonn, Nordrhein-Westfalen, Germany
  • Adnan Tufail
    Moorfields Eye Hospital NHS Foundation Trust, London, London, United Kingdom
  • Carel C B Hoyng
    Department of Ophthalmology, Radboud Universiteit, Nijmegen, Gelderland, Netherlands
    Donders Institute for Brain, Cognition and Behaviour, Radboud Universiteit, Nijmegen, Gelderland, Netherlands
  • Matthias Schmid
    Institute of Medical Biometry, Informatics and Epidemiology, Medical Faculty, Universitatsklinikum Bonn, Bonn, Nordrhein-Westfalen, Germany
  • Ulrich F O Luhmann
    Translational Medicine Ophthalmology, Roche Innovation Center, Roche Pharmaceutical Research and Early Development, Basel, Switzerland
  • Klaus Peter Moll
    Novartis Pharma AG, Basel, Basel-Stadt, Switzerland
  • Sergio Leal
    Bayer Consumer Care AG, Basel, Basel-Stadt, Switzerland
  • Frank G Holz
    Department of Ophthalmology, Universitatsklinikum Bonn, Bonn, Nordrhein-Westfalen, Germany
    GRADE Reading Center, Universitatsklinikum Bonn, Bonn, Nordrhein-Westfalen, Germany
  • Robert P Finger
    Department of Ophthalmology, Universitatsklinikum Bonn, Bonn, Nordrhein-Westfalen, Germany
  • Footnotes
    Commercial Relationships   Jan Terheyden Zeiss Meditec, CenterVue, Heidelberg Engineering, Optos, Code F (Financial Support), Novartis, Okko, Code R (Recipient); Charlotte Behning None; Marlene Sassmannshausen Zeiss Meditec, CenterVue, Heidelberg Engineering, Optos, Code F (Financial Support); sarah thiele Zeiss Meditec, CenterVue, Heidelberg Engineering, Optos, Novartis, Code F (Financial Support), Allergan, Bayer, Heidelberg Engineering, Novartis, Code R (Recipient); Steffen Schmitz-Valckenberg AlphaRET, Apellis, Bioeq, Kateiro, Kubota Vision, Novartis, Pixium, Roche, SparingVision, Code C (Consultant/Contractor), Bayer, Zeiss Meditec, Heidelberg Engineering, Novartis, Roche, Code F (Financial Support), STZ GRADE Reading Center, Code O (Owner), Apellis, Heidelberg Engineering, Code R (Recipient); Adnan Tufail Allergan, Allegro, Adverum, Annexon, Apellis, Bayer, Genentech, Heidelberg Engineering, Iveric Bio, Kanghong Pharmaceuticals, Kodiak Sciences, Novartis, Oxurion, Roche, Code C (Consultant/Contractor), Bayer, Novartis, Code F (Financial Support); Carel Hoyng None; Matthias Schmid None; Ulrich Luhmann F. Hoffmann- La Roche Ltd. , Code E (Employment); Klaus Moll Novartis Pharma, Code E (Employment); Sergio Leal Bayer Consumer Care , Code E (Employment); Frank Holz Acucela, Alexion, Alzheon, Allergan, Apellis, Astellas, Bayer, Boehringer-Ingelheim, Bioeq/Formycon, Roche/Genentech, Geuder, Graybug, Gyroscope, Heidelberg Engineering, IvericBio, Janssen, Kanghong, LinBioscience, Novartis, Oxurion, Pixium Vision, Oxurion, Stealth BioTherapeutics, Zeiss Meditec, Code C (Consultant/Contractor), Acucela, Allergan, Apellis, Bayer, Bioeq/Formycon, CenterVue, Roche/Genentech, Geuder, Heidelberg Engineering, IvericBio, NightStarX, Novartis, Optos, Pixium Vision, Oxurion, Zeiss Meditec, Code F (Financial Support), GRADE Reading Center, Code O (Owner); Robert Finger Alimera, Apellis, Bayer, Böhringer-Ingelheim, Novartis, ODOS, Oxford Innovation, ProGenerika, Roche/Genentech, Code C (Consultant/Contractor), Biogen, CentreVue (now Icare), Heidelberg Engineering, Zeiss Meditec, Code F (Financial Support)
  • Footnotes
    Support  IMI2 HORIZON 2020 grant agreement 116076
Investigative Ophthalmology & Visual Science June 2023, Vol.64, 2150. doi:
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      Jan Henrik Terheyden, Charlotte Behning, Marlene Sassmannshausen, sarah thiele, Steffen Schmitz-Valckenberg, Adnan Tufail, Carel C B Hoyng, Matthias Schmid, Ulrich F O Luhmann, Klaus Peter Moll, Sergio Leal, Frank G Holz, Robert P Finger; Association of age-related macular degeneration (AMD) retinal biomarkers with AMD polygenic risk scores in the MACUSTAR study cohort. Invest. Ophthalmol. Vis. Sci. 2023;64(8):2150.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To investigate the association of age-related macular degeneration (AMD) retinal biomarkers with polygenic risk scores (PRS) in the MACUSTAR study, a European, multi-national cohort study.

Methods : Retinal imaging and blood samples were obtained from participants with intermediate AMD (iAMD), early AMD, late AMD and no AMD at 20 clinical sites across seven European countries. The diagnosis was confirmed and retinal imaging biomarkers graded by a central reading center (GRADE). A pre-established PRS was calculated based on 69 individual loci, with higher values indicating a higher genetic AMD risk. Associations between the PRS and retinal imaging biomarkers of AMD (pigmentary abnormalities, PA; complete [c] and incomplete [i] retinal pigment epithelium and outer retinal atrophy [RORA] in the study eye as well as geographic atrophy [GA] in the fellow eye (FE)) were investigated.

Results : A total of 515 individuals (iAMD, n=404; early AMD, 31; late AMD, 34; no AMD, 46) were included in the analysis. The majority of participants (335, 65.0%) were women and the mean (SD) age was 71.7±7.0 years. The average PRS was 0.38±1.53 overall (iAMD, 0.61±1.39; early AMD, -0.99±1.43; late AMD, 0.82±1.47; no AMD, -1.06±1.58). Within iAMD study eyes, the PRS was significantly higher with presence of PA (p=0.029) and cRORA (p=0.0034) as well as presence of GA in the FE (p=0.0053). No significant association was found with the presence of iRORA (p=0.41). In a multivariable model, presence of cRORA in the iAMD group was associated with a significantly higher PRS, when adjusting for presence of PA, GA in the FE, iRORA, age and sex (p = 0.034).

Conclusions : In individuals with iAMD, the presence of PA and cRORA as well as presence of GA in the FE were associated with a higher AMD-PRS, while no significant association was found for iRORA. The interaction of the PRS, retinal biomarkers and the risk of progression from earlier disease states to late AMD has yet to be determined in the ongoing longitudinal MACUSTAR study.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.

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