Evidence map›Paper›PMID 33007465›Full record

ArticleBiochimica et biophysica acta. Gene regulatory mechanisms2020

A lead candidate functional single nucleotide polymorphism within the WARS2 gene associated with waist-hip-ratio does not alter RNA stability.

Milan Mušo, Rebecca Dumbell, Sara Pulit, Nasa Sinnott-Armstrong, Samantha Laber, Louisa Zolkiewski, Liz Bentley, Melina Claussnitzer, Roger D Cox

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Article in Biochimica et biophysica acta. Gene regulatory mechanisms, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Milan MušoMRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire OX11 0RD, UK.
Rebecca DumbellMRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire OX11 0RD, UK.
Sara PulitDepartment of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands; Big Data Institute, Li Ka Shing Center for Health Information and Discovery, Oxford University, Oxford, UK; Program in Medical Population Genetics, Broad Institute, Cambridge, MA, USA.
Nasa Sinnott-ArmstrongThe Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Samantha LaberMRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire OX11 0RD, UK.
Louisa ZolkiewskiMRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire OX11 0RD, UK.
Liz BentleyMRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire OX11 0RD, UK.
Melina ClaussnitzerThe Broad Institute of MIT and Harvard, Cambridge, MA, USA; Gerontology Division, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA; Institute of Nutritional Science, University of Hohenheim, Stuttgart, Germany.
Roger D CoxMRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire OX11 0RD, UK. Electronic address: r.cox@har.mrc.ac.uk.

Funding

Medical Research Council MC_U142661184
6 · The paper itself

Abstract

We have prioritised a single nucleotide polymorphism (SNP) rs2645294 as one candidate functional SNP in the TBX15-WARS2 waist-hip-ratio locus using posterior probability analysis. This SNP is located in the 3' untranslated region of the WARS2 (tryptophanyl tRNA synthetase 2, mitochondrial) gene with which it has an expression quantitative trait in subcutaneous white adipose tissue. We show that transcripts of the WARS2 gene in a human white adipose cell line, heterozygous for the rs2645294 SNP, showed allelic imbalance. We tested whether the rs2645294 SNP altered WARS2 RNA stability using three different methods: actinomycin-D inhibition and RNA decay, mature and nascent RNA analysis and luciferase reporter assays. We found no evidence of a difference in RNA stability between the rs2645294 alleles indicating that the allelic expression imbalance was likely due to transcriptional regulation.

Indexed as

Genetic Association StudiesPolymorphism, Single NucleotideQuantitative Trait, Heritable3' Untranslated RegionsAdipocytes, WhiteAllelesCell Line, TumorComputational BiologyGenes, ReporterHeterozygoteHumansNucleic Acid ConformationQuantitative Trait LociRNA StabilityT-Box Domain ProteinsTryptophan-tRNA Ligase3' Untranslated RegionsT-Box Domain ProteinsTBX15 protein, humanTryptophan-tRNA LigaseAdipose tissueAllelic effectEMSAEQTLGWASLuciferase assayNascent RNAPosterior probabilityRNA-binding proteinRNA stabilityRNA structureUTR regionWaist-to-hip ratio

Identifiers

PMID33007465
PMCPMC7695619

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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.