Evidence map›Paper›PMID 25367360›Full record

SynthesisHuman genetics2015

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.

Qing Li, Robert Wojciechowski, Claire L Simpson, Pirro G Hysi, Virginie J M Verhoeven, Mohammad Kamran Ikram, René Höhn, Veronique Vitart, Alex W Hewitt, Konrad Oexle and 80 more

Open access · hybridAbstract readMeta-Analysis
In one paragraph

Synthesis in Human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 2 pooled it
1.7field-weighted citation impact, top 16% 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, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Review
  4. Article
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  13. Article
  14. [Astigmatism].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2019
    Article
  15. IMI - Report on Experimental Models of Emmetropization and Myopia.Investigative ophthalmology & visual science · 2019
    Review
  16. Journal of ophthalmology · 2019
    Article
  17. Article
  18. Novel Myopia Genes and Pathways Identified From Syndromic Forms of Myopia.Investigative ophthalmology & visual science · 2018
    Article
  19. Review
  20. The Rotterdam Study: 2016 objectives and design update.European journal of epidemiology · 2015
    Article
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

90 authors at 20 institutions in 11 countries.

Qing LiNational Human Genome Research Institute, National Institutes of Health, 333 Cassell Drive Suite 1200, Baltimore, MD, 21224, USA.
Robert Wojciechowski
Claire L Simpson
Pirro G Hysi
Virginie J M Verhoeven
Mohammad Kamran Ikram
René Höhn
Veronique Vitart
Alex W Hewitt
Konrad Oexle
Kari-Matti Mäkelä
Stuart MacGregor
Mario Pirastu
Qiao Fan
Ching-Yu Cheng
Beaté St Pourcain
George McMahon
John P Kemp
Kate Northstone
Jugnoo S Rahi
Phillippa M Cumberland
Nicholas G Martin
Paul G Sanfilippo
Yi Lu
Ya Xing Wang
Caroline Hayward
Ozren Polašek
Harry Campbell
Goran Bencic
Alan F Wright
Juho Wedenoja
Tanja Zeller
Arne Schillert
Alireza Mirshahi
Karl Lackner
Shea Ping Yip
Maurice K H Yap
Janina S Ried
Christian Gieger
Federico Murgia
James F Wilson
Brian Fleck
Seyhan Yazar
Johannes R Vingerling
Albert Hofman
André Uitterlinden
Fernando Rivadeneira
Najaf Amin
Lennart Karssen
Ben A Oostra
Xin Zhou
Yik-Ying Teo
E Shyong Tai
Eranga Vithana
Veluchamy Barathi
Yingfeng Zheng
Rosalynn Grace Siantar
Kumari Neelam
Youchan Shin
Janice Lam
Ekaterina Yonova-Doing
Cristina Venturini
S Mohsen Hosseini
Hoi-Suen Wong
Terho Lehtimäki
Mika Kähönen
Olli Raitakari
Nicholas J Timpson
David M Evans
Chiea-Chuen Khor
Tin Aung
Terri L Young
Paul Mitchell
Barbara Klein
Cornelia M van Duijn
Thomas Meitinger
Jost B Jonas
Paul N Baird
David A Mackey
Tien Yin Wong
Seang-Mei Saw
Olavi Pärssinen
Dwight Stambolian
Christopher J Hammond
Caroline C W Klaver
Cathy Williams
Andrew D Paterson
Joan E Bailey-Wilson
Jeremy A Guggenheim
CREAM Consortium
Erasmus MC · NLSingapore Eye Research Institute · SGUniversity Hospital Bonn · DENational University of Singapore · SGUniversity of Bristol · GBHospital for Sick Children · CANational Human Genome Research Institute · USQIMR Berghofer Medical Research Institute · AUUniversity College London · GBUniversity of Edinburgh · GBBeijing Tongren Hospital · CNHong Kong Polytechnic University · HKNational University Health System · SGSt Thomas' Hospital · GBTampere University · FITechnical University of Munich · DEUniversity Medical Center of the Johannes Gutenberg University Mainz · DECentre for Eye Research Australia · AUDuke-NUS Medical School · SGHelmholtz Zentrum München · DE

Funding

Scientific TransparencyP30EY001583 · NEI · UNIVERSITY OF PENNSYLVANIA · PI CLAIRE H MITCHELL · 1985 to 2026
$19.5M
Genetic Epidemiology of Complex TraitsZIAHG200327 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BAILEY-WILSON, JOAN ELLEN · 2009 to 2022
$10.5M
The Molecular Genetics of High MyopiaR01EY014685 · NEI · UNIVERSITY OF WISCONSIN-MADISON · PI YOUNG, TERRI LOIS · 2003 to 2017
$8.1M
Integrative Data Analysis for Refractive ErrorR01EY024233 · NEI · UNIVERSITY OF PENNSYLVANIA · PI STAMBOLIAN, DWIGHT EDWARD · 2014 to 2016
$1.2M
Gene-environment-wide interaction studies of ocular refractionK08EY022943 · NEI · JOHNS HOPKINS UNIVERSITY · PI WOJCIECHOWSKI, ROBERT J. · 2013 to 2017
$776k
Chief Scientist Office CZB/4/438Chief Scientist Office CZB/4/710Department of Health CDF-2009-02-35Department of Health SRF/01/010Medical Research Council G0400546Medical Research Council MC_PC_15018Medical Research Council MC_PC_U127561128Medical Research Council MC_UU_12013/3Medical Research Council MC_UU_12013/4NEI NIH HHS K08 EY022943NEI NIH HHS P30 EY001583NEI NIH HHS R01 EY014685NEI NIH HHS R01 EY024233Wellcome Trust 102215
6 · The paper itself

Abstract

To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 years (4 cohorts, N = 5,640); and all independent individuals from the above three samples combined with a sample of Chinese subjects aged <25 years (N = 45,931). Participants were classified as cases with refractive astigmatism if the average cylinder power in their two eyes was at least 1.00 diopter and as controls otherwise. Genome-wide association analysis was carried out for each cohort separately using logistic regression. Meta-analysis was conducted using a fixed effects model. In the older European group the most strongly associated marker was downstream of the neurexin-1 (NRXN1) gene (rs1401327, P = 3.92E-8). No other region reached genome-wide significance, and association signals were lower for the younger European group and Asian group. In the meta-analysis of all cohorts, no marker reached genome-wide significance: The most strongly associated regions were, NRXN1 (rs1401327, P = 2.93E-07), TOX (rs7823467, P = 3.47E-07) and LINC00340 (rs12212674, P = 1.49E-06). For 34 markers identified in prior GWAS for spherical equivalent refractive error, the beta coefficients for genotype versus spherical equivalent, and genotype versus refractive astigmatism, were highly correlated (r = -0.59, P = 2.10E-04). This work revealed no consistent or strong genetic signals for refractive astigmatism; however, the TOX gene region previously identified in GWAS for spherical equivalent refractive error was the second most strongly associated region. Analysis of additional markers provided evidence supporting widespread genetic co-susceptibility for spherical and astigmatic refractive errors.

Indexed as

Genome-Wide Association StudyAdultAge FactorsAsian PeopleAstigmatismCalcium-Binding ProteinsCell Adhesion Molecules, NeuronalCohort StudiesFemaleGenetic MarkersHigh Mobility Group ProteinsHumansMaleMiddle AgedNerve Tissue ProteinsNeural Cell Adhesion MoleculesCalcium-Binding ProteinsCell Adhesion Molecules, NeuronalGenetic MarkersHigh Mobility Group ProteinsNerve Tissue ProteinsNeural Cell Adhesion MoleculesNRXN1 protein, humanTOX protein, human

Identifiers

PMID25367360
PMCPMC4291519
OpenAlexW2145744991

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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.