Evidence map›Paper›PMID 36246952›Full record

ArticleOphthalmology science2021

Genetic Risk in Families with Age-Related Macular Degeneration.

Anita de Breuk, Yara T E Lechanteur, Thomas J Heesterbeek, Sascha Fauser, Caroline C W Klaver, Carel B Hoyng, Anneke I den Hollander

Open access · goldAbstract read
In one paragraph

Article in Ophthalmology science, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
1.1field-weighted citation impact, top 23% of its field
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

2 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Review
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

7 authors at 2 institutions in 3 countries.

Anita de BreukDepartment of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Yara T E LechanteurDepartment of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Thomas J HeesterbeekDepartment of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Sascha FauserDepartment of Ophthalmology, University Hospital of Cologne, Cologne, Germany.
Caroline C W KlaverDepartment of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Carel B HoyngDepartment of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Anneke I den HollanderDepartment of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Radboud University Nijmegen · NLRoche (Switzerland) · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: To determine the contribution of common and rare genetic risk variants in families with age-related macular degeneration (AMD). Design: Case-control study. Participants: A family cohort (355 affected and 342 unaffected family members from 144 families with AMD) and an unrelated case-control cohort (1078 patients, 952 controls), recruited from the European Genetic Database. Methods: Genetic data of both cohorts were filtered for carriership of rare genetic variants in the coding and splice-site regions of the complement factor H ( Main Outcome Measures: GRSs and segregation of rare Results: We observed higher GRSs in familial versus nonfamilial individuals without rare Conclusions: Genetic risk in families with AMD often is attributed to high GRSs based on common variants. However, in part of the families with a low or intermediate GRS, rare

Indexed as

Age-related macular degenerationAMD, age-related macular degenerationCCP, complement control proteinCFH, complement factor HCFI, complement factor ICI, confidence intervalCIRCL, Cologne Image Reading Center and LaboratoryCNV, choroidal neovascularizationComplement factor HComplement factor IComplement systemGA, geographic atrophyGenetic risk scoreGRS, genetic risk scoreGWAS, genome-wide association studyIQR, interquartile rangeRC, Rotterdam ClassificationSE, standard error

Identifiers

PMID36246952
PMCPMC9562327
OpenAlexW4200026991

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.