Evidence map›Paper›PMID 33654266›Full record

ArticleCommunications biology2021

Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.

Roberto Bonelli, Victoria E Jackson, Aravind Prasad, Jacob E Munro, Samaneh Farashi, Tjebo F C Heeren, Nikolas Pontikos, Lea Scheppke, Martin Friedlander, MacTel Consortium and 4 more

Erratum issuedOpen access · goldAbstract readMulticenter Study
In one paragraph

Article in Communications biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 22 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 1 pooled it
5.8field-weighted citation impact, top 3% 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

22 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Genetic Background of Macular Telangiectasia Type 2.International journal of molecular sciences · 2025
    Review
  9. Ocular Tissue-Specific Amino Acid Metabolism in Gyrate Atrophy.Advances in experimental medicine and biology · 2025
    Review
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  11. Article
  12. Article
  13. Article
  14. Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors at 5 institutions in 3 countries.

Roberto Bonelli *Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.
Victoria E Jackson *Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.
Aravind PrasadPopulation Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.
Jacob E MunroPopulation Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.ORCID http://orcid.org/0000-0002-2751-0989
Samaneh FarashiPopulation Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.
Tjebo F C HeerenMoorfields Eye Hospital NHS Foundation Trust, London, UK.
Nikolas PontikosMoorfields Eye Hospital NHS Foundation Trust, London, UK.ORCID http://orcid.org/0000-0003-1782-4711
Lea ScheppkeThe Lowy Medical Research Institute, La Jolla, CA, USA.
Martin FriedlanderThe Lowy Medical Research Institute, La Jolla, CA, USA.ORCID http://orcid.org/0000-0003-4238-9651
MacTel Consortium
Catherine A EganMoorfields Eye Hospital NHS Foundation Trust, London, UK.
Rando AllikmetsDepartment of Ophthalmology, Columbia University, New York, NY, USA.
Brendan R E AnsellPopulation Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.ORCID http://orcid.org/0000-0003-0297-897X
Melanie BahloPopulation Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia. bahlo@wehi.edu.au.ORCID http://orcid.org/0000-0001-5132-0774
The University of Melbourne · AUMoorfields Eye Hospital NHS Foundation Trust · GBColumbia University · USScripps Research Institute · USThe Lowy Medical Research Institute · US

Funding

Instrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9M
Precision medicine for ABCA4 disease: modifier allelesR01EY028203 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALLIKMETS, RANDO L · 2018 to 2021
$2.3M
Integrated clinical, genetic and functional analysis of the ABCA4 locusR01EY029315 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALLIKMETS, RANDO L · 2019 to 2023
$2.2M
Medical Research CouncilNEI NIH HHS P30 EY019007NEI NIH HHS R01 EY028203NEI NIH HHS R01 EY029315
6 · The paper itself

Abstract

Macular Telangiectasia Type 2 (MacTel) is a rare degenerative retinal disease with complex genetic architecture. We performed a genome-wide association study on 1,067 MacTel patients and 3,799 controls, which identified eight novel genome-wide significant loci (p < 5 × 10

Indexed as

Polymorphism, Single NucleotideAgedAged, 80 and overCase-Control StudiesEnergy MetabolismFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMendelian Randomization AnalysisMiddle AgedPhenotypeQuantitative Trait LociRetina

Identifiers

PMID33654266
PMCPMC7925591
OpenAlexW3135009658

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.