Evidence map›Paper›PMID 23595788›Full record

ArticleHuman mutation2013

Prioritization of genetic variants in the microRNA regulome as functional candidates in genome-wide association studies.

Brendan Bulik-Sullivan, Sara Selitsky, Praveen Sethupathy

Abstract read
In one paragraph

Article in Human mutation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
17citing 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

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

  1. Pooled it
  2. Review
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  12. Genetic variability of microRNA regulome in human.Molecular genetics & genomic medicine · 2015
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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.

Brendan Bulik-SullivanDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA.
Sara Selitsky
Praveen Sethupathy

Funding

Discovery of microRNA regulatory modules controlling human pancreatic islet functR00DK091318 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SETHUPATHY, PRAVEEN · 2012 to 2014
$737k
NIDDK NIH HHS DK091318-02NIDDK NIH HHS R00 DK091318
6 · The paper itself

Abstract

Comprehensive analyses of results from genome-wide association studies (GWAS) have demonstrated that complex disease/trait-associated loci are enriched in gene regulatory regions of the genome. The search for causal regulatory variation has focused primarily on transcriptional elements, such as promoters and enhancers. microRNAs (miRNAs) are now widely appreciated as critical posttranscriptional regulators of gene expression and are thought to impart stability to biological systems. Naturally occurring genetic variation in the miRNA regulome is likely an important contributor to phenotypic variation in the human population. However, the extent to which polymorphic miRNA-mediated gene regulation underlies GWAS signals remains unclear. In this study, we have developed the most comprehensive bioinformatic analysis pipeline to date for cataloging and prioritizing variants in the miRNA regulome as functional candidates in GWAS. We highlight specific findings, including a variant in the promoter of the miRNA let-7 that may contribute to human height variation. We also provide a discussion of how our approach can be expanded in the future. Overall, we believe that the results of this study will be valuable for researchers interested in determining whether GWAS signals implicate the miRNA regulome in their disease/trait of interest.

Indexed as

Gene Expression RegulationGenetic VariationGenome-Wide Association StudyPolymorphism, Single NucleotideBody HeightComputational BiologyDiseaseGenome, HumanHeLa CellsHumansLinkage DisequilibriumMicroRNAsPromoter Regions, GeneticQuantitative Trait LociMicroRNAsmirnlet7 microRNA, humancomplex diseasegene regulationGWASmicroRNApolymorphism

Identifiers

PMID23595788
PMCPMC3807557

What OpenQuestion holds

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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 OpenQuestion graph.