Evidence map›Paper›PMID 32277175›Full record

SynthesisJournal of human genetics2020

Genome-wide meta-analysis identifies novel loci associated with age-related macular degeneration.

Xikun Han, Puya Gharahkhani, Paul Mitchell, Gerald Liew, Alex W Hewitt, Stuart MacGregor

Abstract readMeta-Analysis
PubMed Publisher
In one paragraph

Synthesis in Journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
65citing papers in PubMed, 3 pooled it
10.0field-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

65 citing papers in PubMed, 3 syntheses or guidelines pooled it, 99 citations in OpenAlex.

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  4. ADAM19: biological characteristics and implications in disease pathology and clinical applications.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026
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5 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

6 authors at 4 institutions in 1 country.

Xikun HanStatistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. Xikun.Han@qimrberghofer.edu.au.ORCID http://orcid.org/0000-0002-3823-7308
Puya GharahkhaniStatistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Paul MitchellDepartment of Ophthalmology, Centre for Vision Research, The Westmead Institute for Medical Research, The University of Sydney, Sydney, NSW, Australia.
Gerald LiewDepartment of Ophthalmology, Centre for Vision Research, The Westmead Institute for Medical Research, The University of Sydney, Sydney, NSW, Australia.
Alex W HewittMenzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.
Stuart MacGregorStatistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0001-6731-8142
QIMR Berghofer Medical Research Institute · AUThe University of Sydney · AUThe University of Queensland · AUUniversity of Tasmania · AU

Funding

Medical Research Council MC_PC_17228Medical Research Council MC_QA137853
6 · The paper itself

Abstract

Age-related macular degeneration (AMD) is the leading cause of irreversible blindness among the elderly population. To accelerate the understanding of the genetics of AMD, we conducted a meta-analysis of genome-wide association studies (GWAS) combining data from the International AMD Genomics Consortium AMD-2016 GWAS (16,144 advanced AMD cases and 17,832 controls), AMD-2013 GWAS (17,181 cases and 60,074 controls), and new data on 4017 AMD cases and 14,984 controls from Genetic Epidemiology Research on Aging study. We identified 12 novel AMD loci near or within C4BPA-CD55, ZNF385B, ZBTB38, NFKB1, LINC00461, ADAM19, CPN1, ACSL5, CSK, RLBP1, CLUL1, and LBP. We then replicated the associations of the novel loci in independent cohorts, UK Biobank (5860 cases and 126,726 controls) and FinnGen (1266 cases and 47,560 control). In general, the concordance in effect sizes was very high (correlation in effect size estimates 0.89), 11 of 12 novel loci were in the expected direction, 5 were associated with AMD at a nominal significance level, and rs3825991 (near gene RLBP1) after Bonferroni correction. We identified an additional 21 novel genes using a gene-based test. Most of the novel genes are expressed in retinal tissue and could be involved in the pathogenesis of AMD (i.e., complement, inflammation, and lipid pathways). These findings enhance our understanding of the genetic architecture of AMD and shed light on the biological process underlying AMD pathogenesis.

Indexed as

Acute-Phase ProteinsADAM ProteinsCarrier ProteinsCD55 AntigensCoenzyme A LigasesComplement C4b-Binding ProteinDatabases, GeneticEye ProteinsGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLipopolysaccharide-Binding ProteinMacular DegenerationMembrane GlycoproteinsNF-kappa B p50 Subunit11-cis-retinal-binding proteinACSL5 protein, humanAcute-Phase ProteinsADAM19 protein, humanADAM ProteinsC4BPA protein, humanCarrier ProteinsCD55 AntigensCLUL1 protein, humanCoenzyme A LigasesComplement C4b-Binding ProteinEye ProteinsLipopolysaccharide-Binding ProteinMembrane GlycoproteinsNF-kappa B p50 SubunitNFKB1 protein, humanNuclear ProteinsRepressor ProteinsZBTB38 protein, humanZNF385B protein, human

Identifiers

PMID32277175
OpenAlexW3016124644

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.