Evidence map›Paper›PMID 34099068›Full record

ArticleHuman genomics2021

Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences.

Liron Ganel, Lei Chen, Ryan Christ, Jagadish Vangipurapu, Erica Young, Indraniel Das, Krishna Kanchi, David Larson, Allison Regier, Haley Abel and 14 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
–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

14 citing papers in PubMed.

  1. Article
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  7. Observational
  8. Review
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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

24 authors.

Liron GanelMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0002-8762-622X
Lei ChenMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Ryan ChristMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Jagadish VangipurapuInstitute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland.
Erica YoungMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Indraniel DasMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Krishna KanchiMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
David LarsonMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Allison RegierMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Haley AbelMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Chul Joo KangMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Alexandra ScottMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Aki HavulinnaInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Charleston W K ChiangCenter for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Susan ServiceCenter for Neurobehavioral Genetics, Jane and Terry Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.
Nelson FreimerCenter for Neurobehavioral Genetics, Jane and Terry Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.
Aarno PalotieInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Samuli RipattiInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Johanna KuusistoInstitute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland.
Michael BoehnkeDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA.
Markku LaaksoInstitute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland.
Adam LockeMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Nathan O StitzielMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA. nstitziel@wustl.edu.
Ira M HallMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA. ira.hall@yale.edu.

Funding

Large Scale Genome SequencingU54HG003079 · NHGRI · WASHINGTON UNIVERSITY · PI DUTCHER, SUSAN K · 2004 to 2016
$445.7M
WU INSTITUTE OF CLINICAL AND TRANSLATIONAL SCIENCESUL1TR002345 · NCATS · WASHINGTON UNIVERSITY · PI William G. Powderly · 2017 to 2026
$97.8M
Supplement Proposal: Accelerated Genome Aggregation and Joint Variant Calling EffortUM1HG008853 · NHGRI · WASHINGTON UNIVERSITY · PI HALL, IRA M, MILBRANDT, JEFFREY D · 2016 to 2020
$76.2M
Regional Pilot And Feasibility Study Grants ProgramP30DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Mehboob A Hussain · 2013 to 2026
$24.3M
Identifying Genes for Type 2 Diabetes: FUSIONU01DK062370 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L, SCOTT, LAURA J. · 2009 to 2021
$11.6M
PRINCIPLES IN CARDIVASCULAR RESEARCH TRAINING PROGRAMT32HL007081 · NHLBI · WASHINGTON UNIVERSITY · PI Abhinav Diwan, Karen Ellen Joynt Maddox · 1985 to 2026
$10.6M
Identifying Genes for Type 2 Diabetes:FUSIONR01DK062370 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L, SCOTT, LAURA J. · 2003 to 2025
$6.7M
Medical Research Council MC_PC_17228Medical Research Council MC_QA137853NCATS NIH HHS UL1 TR002345NHGRI NIH HHS U54 HG003079NHGRI NIH HHS UM1 HG008853NHLBI NIH HHS T32 HL007081NIDDK NIH HHS P30 DK020572NIDDK NIH HHS R01 DK062370NIDDK NIH HHS U01 DK062370
6 · The paper itself

Abstract

backgroundMitochondrial genome copy number (MT-CN) varies among humans and across tissues and is highly heritable, but its causes and consequences are not well understood. When measured by bulk DNA sequencing in blood, MT-CN may reflect a combination of the number of mitochondria per cell and cell-type composition. Here, we studied MT-CN variation in blood-derived DNA from 19184 Finnish individuals using a combination of genome (N = 4163) and exome sequencing (N = 19034) data as well as imputed genotypes (N = 17718).

resultsWe identified two loci significantly associated with MT-CN variation: a common variant at the MYB-HBS1L locus (P = 1.6 × 10

conclusionThese results suggest that measurements of MT-CN in blood-derived DNA partially reflect differences in cell-type composition and that these differences are causally linked to insulin and related traits.

Indexed as

AdultAgedApoptosis Regulatory ProteinsCell LineageDNA Copy Number VariationsDNA, MitochondrialExome SequencingFemaleGenetic Predisposition to DiseaseGenome, MitochondrialGenome-Wide Association StudyGTP-Binding ProteinsHumansMaleMembrane ProteinsMendelian Randomization AnalysisApoptosis Regulatory ProteinsDNA, MitochondrialGTP-Binding ProteinsHBS1L protein, humanMembrane ProteinsMYB protein, humanProto-Oncogene Proteins c-mybTMBIM1 protein, humanGenome-wide association studiesHuman geneticsHuman genome sequencingMendelian randomizationMetabolic syndromeMitochondrial content

Identifiers

PMID34099068
PMCPMC8185936

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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.