Evidence map›Paper›PMID 40697392›Full record

ArticleOphthalmology science

Genetic Risk and OCT-Based Phenotypic Associations in Age-Related Macular Degeneration.

Shlomit Jaskoll, Yahel Shwartz, Adi Kramer, Sarah Elbaz-Hayoun, Batya Rinsky, Michelle Grunin, Liran Tiosano, Jaime Levy, Brice Nguedia Vofo, Itay Chowers

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Ophthalmology science. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

10 authors.

Shlomit JaskollThe Faculty of Medicine, Department of Ophthalmology, Hadassah-Hebrew University Medical Center, The Hebrew University of Jerusalem, Jerusalem, Israel.
Yahel ShwartzThe Faculty of Medicine, Department of Ophthalmology, Hadassah-Hebrew University Medical Center, The Hebrew University of Jerusalem, Jerusalem, Israel.
Adi KramerThe Faculty of Medicine, Department of Ophthalmology, Hadassah-Hebrew University Medical Center, The Hebrew University of Jerusalem, Jerusalem, Israel.
Sarah Elbaz-HayounThe Faculty of Medicine, Department of Ophthalmology, Hadassah-Hebrew University Medical Center, The Hebrew University of Jerusalem, Jerusalem, Israel.
Batya RinskyThe Faculty of Medicine, Department of Ophthalmology, Hadassah-Hebrew University Medical Center, The Hebrew University of Jerusalem, Jerusalem, Israel.
Michelle GruninThe Faculty of Medicine, Department of Ophthalmology, Hadassah-Hebrew University Medical Center, The Hebrew University of Jerusalem, Jerusalem, Israel.
Liran TiosanoThe Faculty of Medicine, Department of Ophthalmology, Hadassah-Hebrew University Medical Center, The Hebrew University of Jerusalem, Jerusalem, Israel.
Jaime LevyThe Faculty of Medicine, Department of Ophthalmology, Hadassah-Hebrew University Medical Center, The Hebrew University of Jerusalem, Jerusalem, Israel.
Brice Nguedia VofoThe Faculty of Medicine, Department of Ophthalmology, Hadassah-Hebrew University Medical Center, The Hebrew University of Jerusalem, Jerusalem, Israel.
Itay ChowersThe Faculty of Medicine, Department of Ophthalmology, Hadassah-Hebrew University Medical Center, The Hebrew University of Jerusalem, Jerusalem, Israel.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: The risk for developing age-related macular degeneration (AMD) is associated with multiple genetic variants. We aim to evaluate the association of AMD genetic risk variants with specific features of the disease detected by OCT. Design: A retrospective cross-sectional study. Participants: Subjects diagnosed with AMD and healthy controls (>50 years of age) from a single tertiary referral center. Methods: Genotyping of 52 single nucleotide polymorphisms associated with AMD was analyzed in 578 patients. Weighted genetic risk scores (WGRSs) were calculated for variants in genes encoding proteins involved in the complement cascade, lipid metabolism, and other pathways, respectively. A global WGRS was calculated for all 52 variants. OCT images were annotated for the presence of typical drusen, subretinal drusenoid deposits, hyperreflective foci (HRF), complete retinal pigmented epithelium and outer retinal atrophy (cRORA), and macular neovascularization. Main Outcome Measures: Association of WGRS and individual genetic risk variants with specific disease features detected by OCT. Results: A positive correlation between the presence of drusen and the lipid WGRS was detected ( Conclusions: Weighted genetic risk scores based on risk variants for AMD are associated with specific disease features. Tighter association of the global WGRS compared to pathway-specific scores suggests that several pathways are involved in the development of specific disease features such as cRORA, drusen, and HRF. Financial Disclosures: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Indexed as

Age-related macular degenerationGenetic risk scorePhenotype

Identifiers

PMID40697392
PMCPMC12281124

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Registered trials

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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.