Evidence map›Paper›PMID 26258848›Full record

ArticleNature genetics2015

A gene-based association method for mapping traits using reference transcriptome data.

Eric R Gamazon, Heather E Wheeler, Kaanan P Shah, Sahar V Mozaffari, Keston Aquino-Michaels, Robert J Carroll, Anne E Eyler, Joshua C Denny, GTEx Consortium, Dan L Nicolae and 2 more

Abstract read
In one paragraph

Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1,233 papers, 8 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1,233citing papers in PubMed, 8 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

1,233 citing papers in PubMed, 8 syntheses or guidelines pooled it.

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  8. Multiancestry Transcriptome-Wide Association Study Identifies Candidate Genes Associated with Hepatoblastoma.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025
    Pooled it
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  16. Big data and psychiatry: advances, constraints and future directions.World psychiatry : official journal of the World Psychiatric Association (WPA) · 2026
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1,173 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

12 authors.

Eric R GamazonSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois, USA.ORCID http://orcid.org/0000-0003-4204-8734
Heather E WheelerSection of Hematology/Oncology, Department of Medicine, University of Chicago, Chicago, Illinois, USA.ORCID http://orcid.org/0000-0001-6955-6021
Kaanan P ShahSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois, USA.
Sahar V MozaffariDepartment of Human Genetics, University of Chicago, Chicago, Illinois, USA.
Keston Aquino-MichaelsSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois, USA.
Robert J CarrollDepartment of Biomedical Informatics, Vanderbilt University, Nashville, Tennessee, USA.
Anne E EylerRheumatology Center, NorthCrest Medical Center, Springfield, Tennessee, USA.
Joshua C DennyDepartment of Biomedical Informatics, Vanderbilt University, Nashville, Tennessee, USA.
GTEx Consortium
Dan L NicolaeSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois, USA.
Nancy J CoxSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois, USA.
Hae Kyung ImSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois, USA.ORCID http://orcid.org/0000-0003-0333-5685

Funding

Whole GenomeU01GM061393 · NIGMS · UNIVERSITY OF CHICAGO · PI RATAIN, MARK J · 2000 to 2014
$39.0M
Sequencing CoreP50DA037844 · NIDA · UNIVERSITY OF CHICAGO · PI PALMER, ABRAHAM A · 2014 to 2023
$27.4M
TRANSGENIC COREP60DK020595 · NIDDK · UNIVERSITY OF CHICAGO · PI BELL, GRAEME I · 1985 to 2012
$25.5M
Pilot and Feasibility ProgramP30DK020595 · NIDDK · UNIVERSITY OF CHICAGO · PI RONALD N COHEN · 2013 to 2026
$20.9M
Re-Engineering Translational Research at the University of ChicagoUL1TR000430 · NCATS · UNIVERSITY OF CHICAGO · PI SOLWAY, JULIAN · 2012 to 2016
$20.2M
Pharmacogenomics of Arrhythmia TherapyU19HL065962 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI RODEN, DAN M · 2010 to 2014
$17.4M
PREDOCTORAL TRAINING IN GENETICS AND REGULATIONT32GM007197 · NIGMS · UNIVERSITY OF CHICAGO · PI ROTHMAN-DENES, LUCIA B. B · 1985 to 2020
$17.0M
Multi-Disciplinary Training Grant in Cancer ResearchT32CA009594 · NCI · UNIVERSITY OF CHICAGO · PI KAY F MACLEOD, Scott A. Oakes · 1989 to 2026
$11.5M
Developing an Oncology Workforce for the 21st Century - Renewal 01K12CA139160 · NCI · UNIVERSITY OF CHICAGO · PI OLOPADE, OLUFUNMILAYO F., SMITH, SONALI · 2010 to 2024
$10.6M
Modeling the temporal succession of phenotypes & environnnental cuesP50MH094267 · NIMH · UNIVERSITY OF CHICAGO · PI RZHETSKY, ANDREY · 2011 to 2015
$10.2M
Genetic predictors of response to anti-TNF therapy in rheumatoid arthritisU01GM092691 · NIGMS · BRIGHAM AND WOMEN'S HOSPITAL · PI BRENNER, MICHAEL B., RAYCHAUDHURI, SOUMYA · 2010 to 2014
$7.5M
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
NCATS NIH HHS UL1 TR000430NCI NIH HHS F32 CA165823NCI NIH HHS K12 CA139160NCI NIH HHS T32 CA009594NHLBI NIH HHS U19 HL065962NIDA NIH HHS P50 DA037844NIDDK NIH HHS P30 DK020595NIDDK NIH HHS P30 DK20595NIDDK NIH HHS P60 DK020595NIDDK NIH HHS P60 DK20595NIGMS NIH HHS T32 GM007197NIGMS NIH HHS U01 GM061393NIGMS NIH HHS U01 GM092691NIGMS NIH HHS U01 GM61393NIMH NIH HHS P50 MH094267NIMH NIH HHS R01 MH090937NIMH NIH HHS R01 MH101820NIMH NIH HHS R01 MH107666NIMH NIH HHS T32 MH020065
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) have identified thousands of variants robustly associated with complex traits. However, the biological mechanisms underlying these associations are, in general, not well understood. We propose a gene-based association method called PrediXcan that directly tests the molecular mechanisms through which genetic variation affects phenotype. The approach estimates the component of gene expression determined by an individual's genetic profile and correlates 'imputed' gene expression with the phenotype under investigation to identify genes involved in the etiology of the phenotype. Genetically regulated gene expression is estimated using whole-genome tissue-dependent prediction models trained with reference transcriptome data sets. PrediXcan enjoys the benefits of gene-based approaches such as reduced multiple-testing burden and a principled approach to the design of follow-up experiments. Our results demonstrate that PrediXcan can detect known and new genes associated with disease traits and provide insights into the mechanism of these associations.

Indexed as

Gene Expression ProfilingChromosome MappingGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansPhenotypePolymorphism, Single Nucleotide

Identifiers

PMID26258848
PMCPMC4552594

What OpenQuestion holds

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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.