Evidence map›Paper›PMID 28250457›Full record

ArticleNature genetics2017

Genome-wide analyses identify common variants associated with macular telangiectasia type 2.

Thomas S Scerri, Anna Quaglieri, Carolyn Cai, Jana Zernant, Nori Matsunami, Lisa Baird, Lea Scheppke, Roberto Bonelli, Lawrence A Yannuzzi, Martin Friedlander and 6 more

Abstract read
PubMed Publisher
In one paragraph

Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
75citing papers in PubMed, 1 pooled it
–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

75 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Macular telangiectasia type 2: An update.The Journal of international medical research · 2026
    Review
  4. Article
  5. Article
  6. Variant-to-gene mapping identifiesbioRxiv : the preprint server for biology · 2026
    Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Genetic Background of Macular Telangiectasia Type 2.International journal of molecular sciences · 2025
    Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Review
  18. Article
  19. ASCT2 is the primary serine transporter in cancer cells.bioRxiv : the preprint server for biology · 2023
    Article
  20. Article

15 more citing papers are in PubMed but not listed here.

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

16 authors.

Thomas S ScerriThe Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.ORCID http://orcid.org/0000-0003-0992-4042
Anna QuaglieriThe Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.
Carolyn CaiDepartment of Ophthalmology, Columbia University, New York, New York, USA.
Jana ZernantDepartment of Ophthalmology, Columbia University, New York, New York, USA.
Nori MatsunamiDepartment of Human Genetics, University of Utah, Salt Lake City, Utah, USA.
Lisa BairdDepartment of Human Genetics, University of Utah, Salt Lake City, Utah, USA.
Lea ScheppkeThe Lowy Medical Research Institute, La Jolla, California, USA.
Roberto BonelliThe Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.
Lawrence A YannuzziDepartment of Ophthalmology, Columbia University, New York, New York, USA.
Martin FriedlanderThe Lowy Medical Research Institute, La Jolla, California, USA.
MacTel Project Consortium
Catherine A EganMedical Retina Department, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Marcus FruttigerUCL Institute of Ophthalmology, University College London, London, UK.
Mark LeppertDepartment of Human Genetics, University of Utah, Salt Lake City, Utah, USA.
Rando AllikmetsDepartment of Ophthalmology, Columbia University, New York, New York, USA.
Melanie BahloThe Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.ORCID http://orcid.org/0000-0001-5132-0774

Funding

Genetic Variation in Age-Related Macular DegenerationR01EY013435 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALLIKMETS, RANDO L · 2001 to 2014
$7.7M
NEI NIH HHS R01 EY013435
6 · The paper itself

Abstract

Idiopathic juxtafoveal retinal telangiectasis type 2 (macular telangiectasia type 2; MacTel) is a rare neurovascular degenerative retinal disease. To identify genetic susceptibility loci for MacTel, we performed a genome-wide association study (GWAS) with 476 cases and 1,733 controls of European ancestry. Genome-wide significant associations (P < 5 × 10

Indexed as

AdolescentAdultAgedAged, 80 and overChildChild, PreschoolFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedPolymorphism, Single NucleotideRetinal TelangiectasisWhite People

Identifiers

PMID28250457

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.