Evidence map›Paper›PMID 27428252›Full record

ArticleOmics : a journal of integrative biology2016

Consensus Genome-Wide Expression Quantitative Trait Loci and Their Relationship with Human Complex Trait Disease.

Chen-Hsin Yu, Lipika R Pal, John Moult

Abstract read
In one paragraph

Article in Omics : a journal of integrative biology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 1 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

32 citing papers in PubMed, 1 synthesis or guideline pooled it.

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  10. Integrative functional genomic analysis of intron retention in human and mouse brain with Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2021
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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

3 authors.

Chen-Hsin Yu1 Institute for Bioscience and Biotechnology Research, University of Maryland , Rockville, Maryland.
Lipika R Pal1 Institute for Bioscience and Biotechnology Research, University of Maryland , Rockville, Maryland.
John Moult1 Institute for Bioscience and Biotechnology Research, University of Maryland , Rockville, Maryland.

Funding

Identification and in vitro experimental investigation of missense SNPs implicateR01GM102810 · NIGMS · UNIV OF MARYLAND, COLLEGE PARK · PI HERZBERG, OSNAT, MOULT, JOHN · 2012 to 2015
$1.1M
Mechanisms underlying complex trait human diseaseR01GM104436 · NIGMS · UNIV OF MARYLAND, COLLEGE PARK · PI MOULT, JOHN · 2013 to 2016
$1.1M
NIGMS NIH HHS R01 GM102810NIGMS NIH HHS R01 GM104436
6 · The paper itself

Abstract

Most of the risk loci identified from genome-wide association (GWA) studies do not provide direct information on the biological basis of a disease or on the underlying mechanisms. Recent expression quantitative trait locus (eQTL) association studies have provided information on genetic factors associated with gene expression variation. These eQTLs might contribute to phenotype diversity and disease susceptibility, but interpretation is handicapped by low reproducibility of the expression results. To address this issue, we have generated a set of consensus eQTLs by integrating publicly available data for specific human populations and cell types. Overall, we find over 4000 genes that are involved in high-confidence eQTL relationships. To elucidate the role that eQTLs play in human common diseases, we matched the high-confidence eQTLs to a set of 335 disease risk loci identified from the Wellcome Trust Case Control Consortium GWA study and follow-up studies for 7 human complex trait diseases-bipolar disorder (BD), coronary artery disease (CAD), Crohn's disease (CD), hypertension (HT), rheumatoid arthritis (RA), type 1 diabetes (T1D), and type 2 diabetes (T2D). The results show that the data are consistent with ∼50% of these disease loci arising from an underlying expression change mechanism.

Indexed as

Arthritis, RheumatoidBipolar DisorderCoronary Artery DiseaseCrohn DiseaseDiabetes Mellitus, Type 1Diabetes Mellitus, Type 2Genetic Predisposition to DiseaseGenome-Wide Association StudyHumansQuantitative Trait Loci

Identifiers

PMID27428252
PMCPMC4960478

What Socratic holds

Textmetadata
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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 Socratic graph.