Evidence map›Paper›PMID 40089136›Full record

ReviewExperimental eye research2025

Functional genomics in age-related macular degeneration: From genetic associations to understanding disease mechanisms.

Rinki Ratnapriya, Felix Grassman, Rui Chen, Alex Hewitt, Jianhai Du, Daniel R Saban, Caroline C W Klaver, John Ash, Dwight Stambolian, Santa J Tumminia and 4 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Experimental eye research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Article
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Rinki RatnapriyaDepartment of Ophthalmology, Baylor College of Medicine, Houston, TX, USA.
Felix GrassmanDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; Institute for Clinical Research and Systems Medicine, Health and Medical University, Potsdam, Germany.
Rui ChenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Alex HewittMenzies Institute for Medical Research, University of Tasmania, Hobart, Australia.
Jianhai DuDepartment of Ophthalmology and Visual Sciences, Department of Biochemistry and Molecular Medicine, West Virginia University, Morgantown, USA.
Daniel R SabanDepartment of Ophthalmology, Duke University School of Medicine, Durham, NC, USA; Department of Integrative Immunobiology, Duke University, Durham, NC, USA.
Caroline C W KlaverDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands; Institute of Molecular and Clinical Ophthalmology, University of Basel, Basel, Switzerland.
John AshDepartment of Ophthalmology, University of Pittsburgh, Pittsburgh, PA, USA.
Dwight StambolianUniveristy of Pennsylvania, USA.
Santa J TumminiaNational Eye Institute, Bethesda, MD, USA.
Jiang QianWilmer Eye Institute, Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Deeba HusainRetina Service, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.
Sudha K IyengarDepartment of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA.
Anneke I den HollanderGenomics Research Center, AbbVie, North Chicago, IL, USA; Genomics Research Center, AbbVie, Cambridge, MA, USA. Electronic address: anneke.denhollander@abbvie.com.

Funding

VISION RESEARCHP30EY005722 · NEI · DUKE UNIVERSITY · PI Goldis Malek · 1985 to 2026
$19.3M
Cellular and Molecular Dynamics of Retinal Microglial in the Context of Photoreceptor DegenerationR01EY030906 · NEI · DUKE UNIVERSITY · PI Daniel Raphael Saban · 2020 to 2026
$3.5M
Metabolomics a Novel Tool for Investigating the Pathogenesis of Age-related Macular DegenerationR01EY030088 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Deeba Husain · 2020 to 2026
$3.5M
Metabolic dysfunction from ECM remodeling in diseases of human RPER01EY034364 · NEI · UNIVERSITY OF WASHINGTON · PI Jennifer Rayming Chao, Jianhai Du · 2022 to 2026
$2.8M
Retinal Mitochondrial Metabolism in Alzheimer's DiseaseR01EY031324 · NEI · WEST VIRGINIA UNIVERSITY · PI DU, JIANHAI · 2021 to 2024
$2.0M
Proline metabolism in retinal healthR01EY032462 · NEI · WEST VIRGINIA UNIVERSITY · PI DU, JIANHAI · 2021 to 2025
$1.9M
NEI NIH HHS P30 EY005722NEI NIH HHS R01 EY030088NEI NIH HHS R01 EY030906NEI NIH HHS R01 EY031324NEI NIH HHS R01 EY032462NEI NIH HHS R01 EY034364
6 · The paper itself

Abstract

Genome-wide association studies have been remarkably successful in identifying genetic variants associated with age-related macular degeneration (AMD), demonstrating a strong genetic component largely driven by common variants. However, progress in translating these genetic findings into a deeper understanding of disease mechanisms and new therapies has been slow. Slow progress in this area can be attributed to limited knowledge of the functional impact of AMD-associated non-coding variants on gene function, the molecular mechanisms and cell types underlying disease. This review offers a comprehensive overview of functional genomics approaches to uncover the genetic, epigenetic, cellular and molecular mechanisms underlying AMD and outlines future directions for research.

Indexed as

GenomicsMacular DegenerationGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansCellular models of AMDGene prioritizationGene regulationGenome-wide association study (GWAS)MicrogliaQuantitative trait loci (QTL)Village-in-a-dish

Identifiers

PMID40089136
PMCPMC12048874

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.