Evidence map›Paper›PMID 24971990›Full record

ReviewEye (London, England)2014

Genome-wide association studies: applications and insights gained in Ophthalmology.

A Chandra, D Mitry, A Wright, H Campbell, D G Charteris

Abstract readReview
In one paragraph

Review in Eye (London, England), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Review
  5. Article
  6. Review
  7. Review
  8. IMI - Myopia Genetics Report.Investigative ophthalmology & visual science · 2019
    Review
  9. 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

5 authors.

A Chandra1] Department of Ophthalmology, Moorfields Eye Hospital, London, UK [2] UCL Institute of Ophthalmology, London, UK.
D Mitry1] Department of Ophthalmology, Moorfields Eye Hospital, London, UK [2] Centre for Population Health Sciences, University of Edinburgh, Edinburgh, UK.
A WrightMedical Research Council Human Genetics Unit, Western General Hospital, Edinburgh, UK.
H CampbellCentre for Population Health Sciences, University of Edinburgh, Edinburgh, UK.
D G CharterisDepartment of Ophthalmology, Moorfields Eye Hospital, London, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genome-wide association studies (GWAS) use high-throughput genotyping technologies to genotype thousands of single-nucleotide polymorphisms (SNPs) and relate them to the development of clinical and quantitative traits. Their use has been highly successful in the field of ophthalmology, and since the advent of GWAS in 2005, many genes not previously suspected of having a role in disease have been identified and the findings replicated. We conducted an extensive literature review and describe the concept, design, advantages, and limitations of GWAS and provide a detailed description of the applications and discoveries of GWAS in the field of eye disease to date. There have been many novel findings revealing previously unknown biological insights in a diverse range of common ocular conditions. GWAS have been a highly successful modality for investigating the pathogenesis of a wide variety of ophthalmic conditions. The insights gained into the pathogenesis of disease provide not only a better understanding of underlying disease mechanism but also offer a rationale for targeted treatment and preventative strategies. Expansive international collaboration and standardised phenotyping will permit the continued success of this investigative technique.

Indexed as

Genome-Wide Association StudyOphthalmologyPolymorphism, Single NucleotideGenotypeHumansPhenotype

Identifiers

PMID24971990
PMCPMC4166635

What OpenQuestion holds

Textmetadata
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.