Evidence map›Paper›PMID 29582564›Full record

ReviewWiley interdisciplinary reviews. RNA2018

Genetic variants in mRNA untranslated regions.

Maristella Steri, M Laura Idda, Michael B Whalen, Valeria Orrù

Abstract readReview
In one paragraph

Review in Wiley interdisciplinary reviews. RNA, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 111 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
111citing papers in PubMed, 3 pooled it
5.5field-weighted citation impact, top 3% 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

111 citing papers in PubMed, 3 syntheses or guidelines pooled it, 226 citations in OpenAlex.

  1. Pooled it
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  12. Review
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  15. Investigating Potential 5' UTR G-Quadruplexes Within NRF2 mRNA.Current issues in molecular biology · 2026
    Article
  16. Article
  17. Review
  18. Article
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51 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

4 authors at 3 institutions in 3 countries.

Maristella SteriIstituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy.ORCID 0000-0001-5869-3872
M Laura IddaLaboratory of Genetics and Genomics, National Institute on Aging, National Institute of Health, Baltimore, Maryland.
Michael B WhalenIstituto di Biofisica, Consiglio Nazionale delle Ricerche (CNR), Trento, Italy.
Valeria OrrùIstituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy.
Institute of Genetic and Biomedical Research · ITInstitute on Aging · USInstituto di Biofisica · ES

Funding

GENETICS & EPIDEMIOLOGY OF AGAING - ASSOCIATED CONDITIONS IN THE SARDINIAN POPULN01AG12109 · NIA · CONSIGLIO NAZIONALE DELLE RICERCHE · PI UDA, MANUELA · 2007 to 2011
$7.8M
NIA NIH HHS N01AG12109NIDA NIH HHS HHSN271201100005C
6 · The paper itself

Abstract

Genome Wide Association Studies (GWAS) have mapped thousands of genetic variants associated with complex disease risk and regulating quantitative traits, thus exploiting an unprecedented high-resolution genetic characterization of the human genome. A small fraction (3.7%) of the identified associations is located in untranslated regions (UTRs), and the molecular mechanism has been elucidated for few of them. Genetic variations at UTRs may modify regulatory elements affecting the interaction of the UTRs with proteins and microRNAs. The overall functional consequences include modulation of messenger RNA (mRNA) transcription, secondary structure, stability, localization, translation, and access to regulators like microRNAs (miRNAs) and RNA-binding proteins (RBPs). Alterations of these regulatory mechanisms are known to modify molecular pathways and cellular processes, potentially leading to disease processes. Here, we analyze some examples of genetic risk variants mapping in the UTR regulatory elements. We describe a recently identified genetic variant localized in the 3'UTR of the TNFSF13B gene, associated with autoimmunity risk and responsible of an increased stability and translation of TNFSF13B mRNA. We discuss how the correct use and interpretation of public GWAS repositories could lead to a better understanding of etiopathogenetic mechanisms and the generation of robust biological hypothesis as starting point for further functional studies. This article is categorized under: RNA Structure and Dynamics > RNA Structure, Dynamics and Chemistry RNA Evolution and Genomics > Computational Analyses of RNA RNA in Disease and Development > RNA in Disease.

Indexed as

AnimalsGenetic VariationHumansRNA, MessengerUntranslated RegionsRNA, MessengerUntranslated Regionsgenetic variantGWASmRNAUTR

Identifiers

PMID29582564
PMCPMC6002891
OpenAlexW2795268134

What OpenQuestion holds

Textmetadata
LicenceTDM
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.