Evidence map›Paper›PMID 31429796›Full record

SynthesisHuman genomics2019

Transcriptome-wide association study of multiple myeloma identifies candidate susceptibility genes.

Molly Went, Ben Kinnersley, Amit Sud, David C Johnson, Niels Weinhold, Asta Försti, Mark van Duin, Giulia Orlando, Jonathan S Mitchell, Rowan Kuiper and 19 more

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in Human genomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 2 pooled it
2.3field-weighted citation impact, top 11% 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

9 citing papers in PubMed, 2 syntheses or guidelines pooled it, 18 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. ULK4 in Neurodevelopmental and Neuropsychiatric Disorders.Frontiers in cell and developmental biology · 2022
    Review
  4. Article
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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

29 authors at 11 institutions in 7 countries.

Molly WentDivision of Genetics and Epidemiology, The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK. molly.went@icr.ac.uk.ORCID 0000-0003-3271-975X
Ben KinnersleyDivision of Genetics and Epidemiology, The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK.
Amit SudDivision of Genetics and Epidemiology, The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK.
David C JohnsonDivision of Molecular Pathology, The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK.
Niels WeinholdDepartment of Internal Medicine V, University of Heidelberg, 69117, Heidelberg, Germany.
Asta FörstiGerman Cancer Research Center, 69120, Heidelberg, Germany.
Mark van DuinDepartment of Hematology, Erasmus MC Cancer Institute, 3075, EA, Rotterdam, The Netherlands.
Giulia OrlandoDivision of Genetics and Epidemiology, The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK.
Jonathan S MitchellDivision of Genetics and Epidemiology, The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK.
Rowan KuiperDepartment of Hematology, Erasmus MC Cancer Institute, 3075, EA, Rotterdam, The Netherlands.
Brian A WalkerMyeloma Institute for Research and Therapy, University of Arkansas for Medical Sciences, Little Rock, AR, 72205, USA.
Walter M GregoryClinical Trials Research Unit, University of Leeds, Leeds, LS2 9PH, UK.
Per HoffmannInstitute of Human Genetics, University of Bonn, D-53127, Bonn, Germany.
Graham H JacksonRoyal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK.
Markus M NöthenInstitute of Human Genetics, University of Bonn, D-53127, Bonn, Germany.
Miguel Inacio da Silva FilhoGerman Cancer Research Center, 69120, Heidelberg, Germany.
Hauke ThomsenGerman Cancer Research Center, 69120, Heidelberg, Germany.
Annemiek BroylDepartment of Hematology, Erasmus MC Cancer Institute, 3075, EA, Rotterdam, The Netherlands.
Faith E DaviesMyeloma Institute for Research and Therapy, University of Arkansas for Medical Sciences, Little Rock, AR, 72205, USA.
Unnur ThorsteinsdottirdeCODE Genetics, Sturlugata 8, IS-101, Reykjavik, Iceland.
Markus HanssonHematology Clinic, Skåne University Hospital, SE-221 85, Lund, Sweden.
Martin KaiserDivision of Molecular Pathology, The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK.
Pieter SonneveldMyeloma Institute for Research and Therapy, University of Arkansas for Medical Sciences, Little Rock, AR, 72205, USA.
Hartmut GoldschmidtDepartment of Internal Medicine V, University of Heidelberg, 69117, Heidelberg, Germany.
Kari StefanssondeCODE Genetics, Sturlugata 8, IS-101, Reykjavik, Iceland.
Kari HemminkiGerman Cancer Research Center, 69120, Heidelberg, Germany.
Björn NilssonHematology and Transfusion Medicine, Department of Laboratory Medicine, BMC B13, SE-221 84, Lund, Sweden.
Gareth J MorganMyeloma Institute for Research and Therapy, University of Arkansas for Medical Sciences, Little Rock, AR, 72205, USA.
Richard S HoulstonDivision of Genetics and Epidemiology, The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK.
Institute of Cancer Research · GBGerman Cancer Research Center · DEUniversity of Arkansas for Medical Sciences · USErasmus MC Cancer Institute · NLUniversity of Bonn · DEdeCODE Genetics (Iceland) · ISBroad Institute · USHeidelberg University · DELund University · SERoyal Victoria Infirmary · GBUniversity of Leeds · GB

Funding

Cancer Research UK 25447Medical Research Council G0100132
6 · The paper itself

Abstract

backgroundWhile genome-wide association studies (GWAS) of multiple myeloma (MM) have identified variants at 23 regions influencing risk, the genes underlying these associations are largely unknown. To identify candidate causal genes at these regions and search for novel risk regions, we performed a multi-tissue transcriptome-wide association study (TWAS).

resultsGWAS data on 7319 MM cases and 234,385 controls was integrated with Genotype-Tissue Expression Project (GTEx) data assayed in 48 tissues (sample sizes, N = 80-491), including lymphocyte cell lines and whole blood, to predict gene expression. We identified 108 genes at 13 independent regions associated with MM risk, all of which were in 1 Mb of known MM GWAS risk variants. Of these, 94 genes, located in eight regions, had not previously been considered as a candidate gene for that locus.

conclusionsOur findings highlight the value of leveraging expression data from multiple tissues to identify candidate genes responsible for GWAS associations which provide insight into MM tumorigenesis. Among the genes identified, a number have plausible roles in MM biology, notably APOBEC3C, APOBEC3H, APOBEC3D, APOBEC3F, APOBEC3G, or have been previously implicated in other malignancies. The genes identified in this TWAS can be explored for follow-up and validation to further understand their role in MM biology.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyAminohydrolasesAPOBEC-3G DeaminaseCytidine DeaminaseCytosine DeaminaseGene Expression ProfilingGenotypeHumansMultiple MyelomaPolymorphism, Single NucleotideQuantitative Trait LociTranscriptomeAminohydrolasesAPOBEC3C protein, humanAPOBEC3D protein, humanAPOBEC3F protein, humanAPOBEC-3G DeaminaseAPOBEC3G protein, humanAPOBEC3H protein, humanCytidine DeaminaseCytosine DeaminaseGene expressionGenome-wide association studyMultiple myelomaTranscriptome-wide association study

Identifiers

PMID31429796
PMCPMC6700979
OpenAlexW2969277063

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.