Evidence map›Paper›PMID 18439551›Full record

ArticleAmerican journal of human genetics2008

Genetic architecture of transcript-level variation in humans.

Shiwei Duan, R Stephanie Huang, Wei Zhang, Wasim K Bleibel, Cheryl A Roe, Tyson A Clark, Tina X Chen, Anthony C Schweitzer, John E Blume, Nancy J Cox and 1 more

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 98 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
98citing papers in PubMed, 5 pooled it
10.1field-weighted citation impact, top 2% 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

98 citing papers in PubMed, 5 syntheses or guidelines pooled it, 134 citations in OpenAlex.

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38 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

11 authors at 1 institution in 1 country.

Shiwei DuanSection of Hematology/Oncology, Department of Medicine, University of Chicago, Chicago, IL 60637, USA.
R Stephanie Huang
Wei Zhang
Wasim K Bleibel
Cheryl A Roe
Tyson A Clark
Tina X Chen
Anthony C Schweitzer
John E Blume
Nancy J Cox
M Eileen Dolan
University of Chicago · US

Funding

Whole GenomeU01GM061393 · NIGMS · UNIVERSITY OF CHICAGO · PI COX, NANCY J, DOLAN, MARY EILEEN · 2000 to 2014
$39.0M
THE STANFORD PHARMACOGENETICS KNOWLEDGE BASEU01GM061374 · NIGMS · STANFORD UNIVERSITY · PI ALTMAN, RUSS BIAGIO · 2000 to 2009
$24.0M
NIGMS NIH HHS U01 GM061374NIGMS NIH HHS U01 GM061393NIGMS NIH HHS U01GM61374NIGMS NIH HHS U01GM61393
6 · The paper itself

Abstract

We report here the results of testing the pairwise association of 12,747 transcriptional gene-expression values with more than two million single-nucleotide polymorphisms (SNPs) in samples of European (CEPH from Utah; CEU) and African (Yoruba from Ibadan; YRI) ancestry. We found 4,677 and 5,125 significant associations between expression quantitative nucleotides (eQTNs) and transcript clusters in the CEU and the YRI samples, respectively. The physical distance between an eQTN and its associated transcript cluster was referred to as the intrapair distance. An association with 4 Mb or less intrapair distance was defined as local; otherwise, it was defined as distant. The enrichment analysis of functional categories shows that genes harboring the local eQTNs are enriched in the categories related to nucleosome and chromatin assembly; the genes harboring the distant eQTNs are enriched in the categories related to transmembrane signal transduction, suggesting that these biological pathways are likely to play a significant role in regulation of gene expression. We highlight in the EPHX1 gene a deleterious nonsynonymous SNP that is distantly associated with gene expression of ORMDL3, a susceptibility gene for asthma.

Indexed as

Genetic VariationGenome, HumanPolymorphism, Single NucleotideBlack PeopleCell LineComputational BiologyEpoxide HydrolasesHaplotypesHumansWhite PeopleEPHX1 protein, humanEpoxide Hydrolases

Identifiers

PMID18439551
PMCPMC2651622
OpenAlexW2148269820

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.