Evidence map›Paper›PMID 32843070›Full record

SynthesisBMC medical genomics2020

Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease.

Thomas W Winkler, Felix Grassmann, Caroline Brandl, Christina Kiel, Felix Günther, Tobias Strunz, Lorraine Weidner, Martina E Zimmermann, Christina A Korb, Alicia Poplawski and 15 more

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in BMC medical genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
88citing papers in PubMed, 4 pooled it
9.7field-weighted citation impact, top 1% 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

88 citing papers in PubMed, 4 syntheses or guidelines pooled it, 139 citations in OpenAlex.

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  13. CETP Renaissance with Obicetrapib.Current atherosclerosis reports · 2026
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28 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

25 authors at 9 institutions in 4 countries.

Thomas W WinklerDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany. thomas.winkler@klinik.uni-regensburg.de.ORCID 0000-0003-0292-5421
Felix GrassmannInstitute of Human Genetics, University of Regensburg, Regensburg, Germany.
Caroline BrandlDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
Christina KielInstitute of Human Genetics, University of Regensburg, Regensburg, Germany.
Felix GüntherDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
Tobias StrunzInstitute of Human Genetics, University of Regensburg, Regensburg, Germany.
Lorraine WeidnerDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
Martina E ZimmermannDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
Christina A KorbDepartment of Ophthalmology, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.
Alicia PoplawskiInstitute for Medical Biostatistics, Epidemiology and Informatics, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.
Alexander K SchusterDepartment of Ophthalmology, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.
Martina Müller-NurasyidInstitute for Medical Biostatistics, Epidemiology and Informatics, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.
Annette PetersGerman Center for Diabetes Research (DZD), Neuherberg, Germany.
Franziska G RauscherLeipzig Research Centre for Civilization Diseases (LIFE), Leipzig University, Leipzig, Germany.
Tobias ElzeLeipzig Research Centre for Civilization Diseases (LIFE), Leipzig University, Leipzig, Germany.
Katrin HornLeipzig Research Centre for Civilization Diseases (LIFE), Leipzig University, Leipzig, Germany.
Markus ScholzLeipzig Research Centre for Civilization Diseases (LIFE), Leipzig University, Leipzig, Germany.
Marisa Cañadas-GarreCentre for Public Health, Queen's University of Belfast, Belfast, UK.
Amy Jayne McKnightCentre for Public Health, Queen's University of Belfast, Belfast, UK.
Nicola QuinnCentre for Public Health, Queen's University of Belfast, Belfast, UK.
Ruth E HoggCentre for Public Health, Queen's University of Belfast, Belfast, UK.
Helmut KüchenhoffStatistical Consulting Unit StaBLab, Department of Statistics, Ludwig-Maximilians-Universität Munich, Munich, Germany.
Iris M HeidDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
Klaus J StarkDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
Bernhard H F WeberInstitute of Human Genetics, University of Regensburg, Regensburg, Germany.
University of Regensburg · DEJohannes Gutenberg University Mainz · DEQueen's University Belfast · GBLeipzig University · DEUniversity Hospital Regensburg · DEHelmholtz Zentrum München · DELudwig-Maximilians-Universität München · DEMassachusetts Eye and Ear Infirmary · USUniversity of Aberdeen · GB

Funding

The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3M
Genomic Architecture of Common Disease in Diverse Populations: WGS of Ongoing Hemorrhagic Stroke Study SupplementUM1HG008898 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2016 to 2020
$77.0M
Building on GWAS for NHLBI-disease: the CHARGE consortiumRC2HL102419 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BOERWINKLE, ERIC A. · 2009 to 2010
$27.6M
VISION RESEARCHP30EY003790 · NEI · SCHEPENS EYE RESEARCH INSTITUTE · PI Patricia Ann D'Amore · 1985 to 2026
$25.5M
A Center for GEI Association StudiesU01HG004424 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY · 2007 to 2010
$21.4M
Northwest Genomics CenterRC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2009 to 2009
$11.0M
Comprehensive Sequencing and Analysis of Variation in NHLBI CohortsRC2HL102925 · NHLBI · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, GABRIEL, STACEY · 2009 to 2009
$10.2M
Epidemiology of putative genuine genetic variant: The Women's Health IntiativeU01HG004790 · NHGRI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI KOOPERBERG, CHARLES L · 2008 to 2012
$9.9M
Exceptional Survival: Trajectories to Functional Aging (CHS All Stars)R01AG023629 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI NEWMAN, ANNE B. · 2004 to 2016
$9.5M
Genetic Epidemiology of Causal Variants Across the Life CourseU01HG004803 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI NORTH, KARI E. · 2008 to 2012
$9.0M
Epidemiologic Architecture for Genes Linked to Environment (EAGLE)U01HG004798 · NHGRI · VANDERBILT UNIVERSITY · PI CRAWFORD, DANA C · 2008 to 2013
$8.8M
Epidemiology of Putative Causal Variants in the Multiethnic CohortU01HG004802 · NHGRI · UNIVERSITY OF HAWAII AT MANOA · PI LE MARCHAND, LOIC · 2008 to 2012
$8.4M
NEI NIH HHS P30EYE003790NEI NIH HHS R01 EY022310NEI NIH HHS R01 EY030575NEI NIH HHS R01EY030575NEI NIH HHS R21 EY030142NEI NIH HHS R21EY030142NEI NIH HHS R21 EY030631NEI NIH HHS R21EY030631NHGRI NIH HHS U01 HG004402NHGRI NIH HHS U01 HG004424NHGRI NIH HHS U01 HG004790NHGRI NIH HHS U01 HG004798NHGRI NIH HHS U01 HG004801NHGRI NIH HHS U01 HG004802NHGRI NIH HHS U01 HG004803NHGRI NIH HHS U01 HG005152NHGRI NIH HHS U01 HG005157NHGRI NIH HHS U54 HG003273NHGRI NIH HHS UM1 HG008898NHLBI NIH HHS HHSN268200800007CNHLBI NIH HHS HHSN268201200008CNHLBI NIH HHS HHSN268201200008INHLBI NIH HHS HHSN268201200036CNHLBI NIH HHS HHSN268201600001CNHLBI NIH HHS HHSN268201600002CNHLBI NIH HHS HHSN268201600003CNHLBI NIH HHS HHSN268201600004CNHLBI NIH HHS HHSN268201600018CNHLBI NIH HHS HHSN268201700001CNHLBI NIH HHS HHSN268201700001INHLBI NIH HHS HHSN268201700002CNHLBI NIH HHS HHSN268201700002INHLBI NIH HHS HHSN268201700003CNHLBI NIH HHS HHSN268201700003INHLBI NIH HHS HHSN268201700004CNHLBI NIH HHS HHSN268201700004INHLBI NIH HHS HHSN268201700005CNHLBI NIH HHS HHSN268201700005INHLBI NIH HHS N01 HC015103NHLBI NIH HHS N01 HC035129NHLBI NIH HHS N01 HC045133NHLBI NIH HHS N01 HC055222NHLBI NIH HHS N01 HC065226NHLBI NIH HHS N01 HC075150NHLBI NIH HHS N01 HC085079NHLBI NIH HHS N01 HC085080NHLBI NIH HHS N01 HC085081NHLBI NIH HHS N01 HC085082NHLBI NIH HHS N01 HC085083NHLBI NIH HHS N01 HC085084NHLBI NIH HHS N01 HC085085NHLBI NIH HHS N01 HC085086NHLBI NIH HHS N02 HL064278NHLBI NIH HHS RC2 HL102419NHLBI NIH HHS RC2 HL102923NHLBI NIH HHS RC2 HL102924NHLBI NIH HHS RC2 HL102925NHLBI NIH HHS RC2 HL102926NHLBI NIH HHS RC2 HL103010NHLBI NIH HHS U01 HL080295NIA NIH HHS R01 AG023629NIH HHS HHSN268201200008INIH HHS R01 EY022310NIH HHS R01 EY RES 511967Wellcome Trust
6 · The paper itself

Abstract

backgroundAdvanced age-related macular degeneration (AMD) is a leading cause of blindness. While around half of the genetic contribution to advanced AMD has been uncovered, little is known about the genetic architecture of early AMD.

methodsTo identify genetic factors for early AMD, we conducted a genome-wide association study (GWAS) meta-analysis (14,034 cases, 91,214 controls, 11 sources of data including the International AMD Genomics Consortium, IAMDGC, and UK Biobank, UKBB). We ascertained early AMD via color fundus photographs by manual grading for 10 sources and via an automated machine learning approach for > 170,000 photographs from UKBB. We searched for early AMD loci via GWAS and via a candidate approach based on 14 previously suggested early AMD variants.

resultsAltogether, we identified 10 independent loci with statistical significance for early AMD: (i) 8 from our GWAS with genome-wide significance (P < 5 × 10

conclusionsOur GWAS on early AMD identified novel loci, highlighted shared and distinct genetics between early and advanced AMD and provides insights into AMD etiology. Our data provide a resource comparable in size to the existing IAMDGC data on advanced AMD genetics enabling a joint view. The biological relevance of this joint view is underscored by the ability of early AMD effects to differentiate the major pathways for advanced AMD.

Indexed as

Genetic LociGenetic MarkersGenetic Predisposition to DiseaseGenome-Wide Association StudyPolymorphism, Single NucleotideCase-Control StudiesHumansMacular DegenerationGenetic MarkersAge-related macular degeneration (AMD)Automated phenotypingCD46Early AMDGenome-wide association study (GWAS)International AMD genomics consortium (IAMDGC)Machine-learningMeta-analysisTYRUK biobank (UKBB)

Identifiers

PMID32843070
PMCPMC7449002
OpenAlexW3049376749

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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.