Evidence map›Paper›PMID 33050425›Full record

ReviewCells2020

Learning from Fifteen Years of Genome-Wide Association Studies in Age-Related Macular Degeneration.

Tobias Strunz, Christina Kiel, Bastian L Sauerbeck, Bernhard H F Weber

Abstract readReview
In one paragraph

Review in Cells, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing 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

21 citing papers in PubMed.

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  17. Article
  18. Age-Related Macular Degeneration.The New England journal of medicine · 2021
    Review
  19. Article
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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

4 authors.

Tobias StrunzInstitute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.ORCID 0000-0002-3744-9595
Christina KielInstitute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.ORCID 0000-0003-3154-4847
Bastian L SauerbeckInstitute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.
Bernhard H F WeberInstitute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.ORCID 0000-0002-8808-7723

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Over the last 15 years, genome-wide association studies (GWAS) have greatly advanced our understanding of the genetic landscape of complex phenotypes. Nevertheless, causal interpretations of GWAS data are challenging but crucial to understand underlying mechanisms and pathologies. In this review, we explore to what extend the research community follows up on GWAS data. We have traced the scientific activities responding to the two largest GWAS conducted on age-related macular degeneration (AMD) so far. Altogether 703 articles were manually categorized according to their study type. This demonstrates that follow-up studies mainly involve "Review articles" (33%) or "Genetic association studies" (33%), while 19% of publications report on findings from experimental work. It is striking to note that only three of 16 AMD-associated loci described de novo in 2016 were examined in the four-year follow-up period after publication. A comparative analysis of five studies on gene expression regulation in AMD-associated loci revealed consistent gene candidates for 15 of these loci. Our random survey highlights the fact that functional follow-up studies on GWAS results are still in its early stages hampering a significant refinement of the vast association data and thus a more accurate insight into mechanisms and pathways.

Indexed as

Databases, GeneticGene ExpressionGene Expression RegulationGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMacular DegenerationPhenotypePolymorphism, Single NucleotideQuantitative Trait LociTranscriptomeage-related macular degenerationanalytical revieweQTLGWASTWAS

Identifiers

PMID33050425
PMCPMC7650698

What OpenQuestion holds

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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.