Evidence map›Paper›PMID 20856902›Full record

ArticlePLoS biology2010

Polymorphic cis- and trans-regulation of human gene expression.

Vivian G Cheung, Renuka R Nayak, Isabel Xiaorong Wang, Susannah Elwyn, Sarah M Cousins, Michael Morley, Richard S Spielman

Abstract read
In one paragraph

Article in PLoS biology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 107 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
107citing papers in PubMed, 2 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

107 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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47 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

7 authors.

Vivian G CheungHoward Hughes Medical Institute, Philadelphia, Pennsylvania, USA. vcheung@mail.med.upenn.edu
Renuka R Nayak
Isabel Xiaorong Wang
Susannah Elwyn
Sarah M Cousins
Michael Morley
Richard S Spielman

Funding

PREDOCTORAL TRAINING PROGRAM IN GENETICST32GM008216 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI EPSTEIN, DOUGLAS J · 1987 to 2023
$8.3M
Genome-wide analysis of genetic variation and expression.R01GM081930 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI CHEUNG, VIVIAN G · 2007 to 2010
$3.2M
Genetics of individual variation in response to radiation exposureR01ES015733 · NIEHS · UNIVERSITY OF PENNSYLVANIA · PI CHEUNG, VIVIAN G · 2007 to 2011
$2.3M
Howard Hughes Medical InstituteNIEHS NIH HHS R01 ES015733NIGMS NIH HHS R01 GM081930NIGMS NIH HHS T32 GM008216
6 · The paper itself

Abstract

Expression levels of human genes vary extensively among individuals. This variation facilitates analyses of expression levels as quantitative phenotypes in genetic studies where the entire genome can be scanned for regulators without prior knowledge of the regulatory mechanisms, thus enabling the identification of unknown regulatory relationships. Here, we carried out such genetic analyses with a large sample size and identified cis- and trans-acting polymorphic regulators for about 1,000 human genes. We validated the cis-acting regulators by demonstrating differential allelic expression with sequencing of transcriptomes (RNA-Seq) and the trans-regulators by gene knockdown, metabolic assays, and chromosome conformation capture analysis. The majority of the regulators act in trans to the target (regulated) genes. Most of these trans-regulators were not known to play a role in gene expression regulation. The identification of these regulators enabled the characterization of polymorphic regulation of human gene expression at a resolution that was unattainable in the past.

Indexed as

Polymorphism, GeneticAllelesGene Expression RegulationGenetic LinkageHumans

Identifiers

PMID20856902
PMCPMC2939022

What OpenQuestion holds

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LicenceCC BY
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.