Evidence map›Paper›PMID 35110616›Full record

ArticleScientific reports2022

Comparison of mitochondrial DNA sequences from whole blood and lymphoblastoid cell lines.

Chunyu Liu, Jessica L Fetterman, Xianbang Sun, Kaiyu Yan, Poching Liu, Yan Luo, Jun Ding, Jun Zhu, Daniel Levy

Open access · goldAbstract readComparative Study
In one paragraph

Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 99% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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

9 authors at 4 institutions in 1 country.

Chunyu LiuDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA, 02118, USA. liuc@bu.edu.
Jessica L FettermanSchool of Medicine, Boston University, Boston, MA, 02118, USA.
Xianbang SunDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA, 02118, USA.
Kaiyu YanDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA, 02118, USA.
Poching LiuDNA Sequencing and Genomics Core, NHLBI/NIH, Bethesda, MD, 20892, USA.
Yan LuoDNA Sequencing and Genomics Core, NHLBI/NIH, Bethesda, MD, 20892, USA.
Jun DingLongitudinal Studies Section, Translational Gerontology Branch, National Institute on Aging, NIH, Baltimore, MD, 21224, USA.
Jun ZhuSystem Biology Center, NHLBI/NIH, Bethesda, MD, 20892, USA.ORCID 0000-0003-4573-8933
Daniel LevyPopulation Sciences Branch, NHLBI/NIH, Bethesda, MD, 20892, USA. levyd@nhlbi.nih.gov.
Boston University · USNational Institutes of Health · USCenter for Systems Biology · USNational Institute on Aging · US

Funding

THE FRAMINGHAM HEART STUDYN01HC25195 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI RAMACHANDRAN, VASAN S · 2007 to 2014
$83.8M
Rare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9M
Rare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6M
Mitochondrial DNA Copy Number and Sequence Variation in Relation to Age, Alzheimer's Disease Related Phenotypes and Age-related Metabolic TraitsR01AG059727 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI LIU, CHUNYU, SATIZABAL, CLAUDIA L · 2018 to 2021
$2.6M
Relations of Mitochondrial Genetic Variation and Function with Atrial FibrillationK01HL143142 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI FETTERMAN, JESSICA L · 2019 to 2023
$757k
Analysis of Heteroplasmic mtDNA Mutations in Whole Genome Sequencing: Methods and Application to Cardiometabolic Disease TraitsR21HL144877 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI LIU, CHUNYU · 2019 to 2020
$246k
NHLBI NIH HHS K01 HL143142NHLBI NIH HHS N01HC25195NHLBI NIH HHS R01 HL120393NHLBI NIH HHS U01 HL120393NIA NIH HHS R01 AG059727U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) R21HL144877
6 · The paper itself

Abstract

Lymphoblastoid cell lines (LCLs) provide an unlimited source of genomic DNA for genetic studies. Here, we compared mtDNA sequence variants, heteroplasmic or homplasmic, between LCL (sequenced by mitoRCA-seq method) and whole blood samples (sequenced through whole genome sequencing approach) of the same 130 participants in the Framingham Heart Study. We applied harmonization of sequence coverages and consistent quality control to mtDNA sequences. We identified 866 variation sites in the 130 LCL samples and 666 sites in the 130 blood samples. More than 94% of the identified homoplasmies were present in both LCL and blood samples while more than 70% of heteroplasmic sites were uniquely present either in LCL or in blood samples. The LCL and whole blood samples carried a similar number of homoplasmic variants (p = 0.45) per sample while the LCL carried a greater number of heteroplasmic variants than whole blood per sample (p < 2.2e-16). Furthermore, the LCL samples tended to accumulate low level heteroplasmies (heteroplasmy level in 3-25%) than their paired blood samples (p = 0.001). These results suggest that cautions should be taken in the interpretation and comparison of findings when different tissues/cell types or different sequencing technologies are applied to obtain mtDNA sequences.

Indexed as

Blood CellsHeteroplasmyWhole Genome SequencingAdultCell Line, TransformedDNA, MitochondrialFemaleHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedMitochondriaReproducibility of ResultsDNA, Mitochondrial

Identifiers

PMID35110616
PMCPMC8810874
OpenAlexW4210722370

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.