Evidence map›Paper›PMID 33050031›Full record

ArticleCells2020

Pleiotropic Locus 15q24.1 Reveals a Gender-Specific Association with Neovascular but Not Atrophic Age-Related Macular Degeneration (AMD).

Christina Kiel, Tobias Strunz, International Amd Genomics Consortium Project Manager Susan Blanton Iamdgc, Felix Grassmann, Bernhard H F Weber

Open access · goldAbstract read
In one paragraph

Article in Cells, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.8field-weighted citation impact, top 27% 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

5 citing papers in PubMed, 7 citations in OpenAlex.

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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

5 authors at 3 institutions in 2 countries.

Christina KielInstitute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.ORCID 0000-0003-3154-4847
Tobias StrunzInstitute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.ORCID 0000-0002-3744-9595
International Amd Genomics Consortium Project Manager Susan Blanton IamdgcJohn P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.ORCID 0000-0002-5433-3439
Felix GrassmannInstitute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.
Bernhard H F WeberInstitute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.ORCID 0000-0002-8808-7723
University of Regensburg · DEUniversity Hospital Regensburg · DEUniversity of Aberdeen · GB

Funding

LIMBIC &MEDULLARY MECH. IN COCAINE-RELATED SUDDEN DEATHR01DA006227 · NIDA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MASH, DEBORAH C. · 1990 to 2012
$3.7M
Methods for high-resolution analysis of genetic effects on gene expressionR01MH101814 · NIMH · UNIVERSITY OF GENEVA · PI BUSTAMANTE, CARLOS DANIEL, DERMITZAKIS, EMMANOUIL · 2013 to 2016
$2.3M
Harnessing GTEx to Create Transcriptome Knowledge and Inform Disease BiologyR01MH101820 · NIMH · UNIVERSITY OF CHICAGO · PI COX, NANCY J, NICOLAE, DAN LIVIU · 2013 to 2015
$2.3M
Identification and validation of cell specific eQTLs by Bayesian modelingR01MH101822 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI BROWN, CHRISTOPHER DAVID, ENGELHARDT, BARBARA · 2013 to 2016
$1.9M
Lifespan Psychosocial Profiles and Biological Pathways to Bone StrengthR01AG033067 · NIA · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI CRANDALL, CAROLYN JANET, KARLAMANGLA, ARUN S · 2009 to 2012
$1.4M
Genetic Regulation of Gene Expression and its Impact on Phenotypes - SupplementR01MH101782 · NIMH · STANFORD UNIVERSITY · PI SABATTI, CHIARA · 2013 to 2016
$1.3M
MODELING THE EFFECTS OF STRUCTURAL VARIATION IN GTEX DATA AND MENDELIAN DISEASER01MH101810 · NIMH · WASHINGTON UNIVERSITY · PI CONRAD, DONALD F. · 2013 to 2016
$1.3M
Systems approaches to link tissue-specific expression to diseaseR01MH101819 · NIMH · NORTH CAROLINA STATE UNIVERSITY RALEIGH · PI NOBEL, ANDREW B, WRIGHT, FRED A. · 2013 to 2015
$1.3M
Statistical analysis of gene expression quantitative trait loci (eQTL)R01MH101825 · NIMH · UNIVERSITY OF CHICAGO · PI STEPHENS, MATTHEW · 2013 to 2015
$1.1M
Statistical analysis of gene expression quantitative trait loci (eQTL)R01MH090951 · NIMH · UNIVERSITY OF CHICAGO · PI PRITCHARD, JONATHAN K · 2010 to 2012
$873k
Methods for high-resolution analysis of genetic effects on gene expressionR01MH090941 · NIMH · UNIVERSITY OF GENEVA · PI DERMITZAKIS, EMMANOUIL, GUIGO, RODERIC · 2010 to 2012
$863k
FACILITATING GTEx, DISEASE, AND GxE ANALYSES VIA FAST EXPRESSION (e)QTL MAPPINGR01MH090936 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI NOBEL, ANDREW B, RUSYN, IVAN · 2010 to 2012
$847k
CCR NIH HHS HHSN261200800001CNCI NIH HHS HHSN261200800001ENHLBI NIH HHS HHSN268201000029CNIA NIH HHS R01 AG033067NIDA NIH HHS R01 DA006227NIMH NIH HHS R01 MH090936NIMH NIH HHS R01 MH090937NIMH NIH HHS R01 MH090941NIMH NIH HHS R01 MH090948NIMH NIH HHS R01 MH090951NIMH NIH HHS R01 MH101782NIMH NIH HHS R01 MH101810NIMH NIH HHS R01 MH101814NIMH NIH HHS R01 MH101819NIMH NIH HHS R01 MH101820NIMH NIH HHS R01 MH101822NIMH NIH HHS R01 MH101825
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) have identified an abundance of genetic loci associated with complex traits and diseases. In contrast, in-depth characterization of an individual genetic signal is rarely available. Here, we focus on the genetic variant rs2168518 in 15q24.1 previously associated with age-related macular degeneration (AMD), but only with suggestive evidence. In a two-step procedure, we initially conducted a series of association analyses to further delineate the association of rs2168518 with AMD but also with other complex phenotypes by using large independent datasets from the International AMD Genomics Consortium (IAMDGC) and the UK Biobank. We then performed a functional annotation with reference to gene expression regulation based on data from the Genotype-Tissue Expression (GTEx) project and RegulomeDB. Association analysis revealed a gender-specific association with male AMD patients and an association predominantly with choroidal neovascularization. Further, the AMD association colocalizes with an association signal of several blood pressure-related phenotypes and with the gene expression regulation of

Indexed as

Choroidal NeovascularizationChromosomes, Human, Pair 15Databases, GeneticFemaleGenetic LociGenetic PleiotropyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMacular DegenerationMaleMicroRNAsPolymorphism, Single NucleotideSex FactorsMicroRNAsMIRN-4513 microRNA, humanage-related macular degenerationchoroidal neovascularizationeQTLgender specificitylocus analysismiRNA variantpleiotropy

Identifiers

PMID33050031
PMCPMC7650707
OpenAlexW3091934320

What OpenQuestion holds

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LicenceCC BY
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.