Evidence map›Paper›PMID 35134187›Full record

ArticleJournal of the National Cancer Institute2022

Identification of Mitochondrial DNA Variants Associated With Risk of Neuroblastoma.

Xiao Chang, Yichuan Liu, Joseph Glessner, Cuiping Hou, Huiqi Qu, Kenny Nguyen, Patrick Sleiman, Lobin Lee, Sharon J Diskin, John M Maris and 1 more

Open access · bronzeAbstract read
In one paragraph

Article in Journal of the National Cancer Institute, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.2field-weighted citation impact, top 20% 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

7 citing papers in PubMed, 10 citations in OpenAlex.

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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

11 authors at 2 institutions in 2 countries.

Xiao ChangThe Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-0230-0416
Yichuan LiuThe Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Joseph GlessnerThe  Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Cuiping HouThe Center for  Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Huiqi QuThe Center for Applied Genomics,  The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Kenny NguyenThe Center for Applied Genomics, The  Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Patrick SleimanThe Center for Applied Genomics, The Children's Hospital  of Philadelphia, Philadelphia, PA, USA.
Lobin LeeDepartment of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
Sharon J DiskinDepartment  of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
John M MarisDepartment of Pediatrics, University  of Pennsylvania School of Medicine, Philadelphia, PA, USA.
Hakon HakonarsonThe Center for Applied Genomics, The Children's Hospital of Philadelphia,  Philadelphia, PA, USA.ORCID 0000-0003-2814-7461
Children's Hospital of Philadelphia · USUniversity of Pennsylvania · US

Funding

Discovering mechanisms of neuroblastoma tumorigenesis to improve patient outcomesR35CA220500 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI JOHN M MARIS · 2017 to 2026
$8.7M
The Genetic Basis of Neuroblastoma TumorigenesisR01CA124709 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI MARIS, JOHN M · 2008 to 2017
$6.3M
Integrative Analysis of a GWAS Repository with EMRs from over 40,000 ChildrenU01HG006830 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI HAKONARSON, HAKON · 2012 to 2014
$3.7M
Role of LMO1 in Neuroblastoma Initiation and MaintenanceR01CA180692 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI LOOK, A. THOMAS, MARIS, JOHN M · 2015 to 2019
$3.0M
NCI NIH HHS R01 CA124709NCI NIH HHS R01 CA180692NCI NIH HHS R35 CA220500NHGRI NIH HHS U01 HG006830
6 · The paper itself

Abstract

Neuroblastoma is a childhood cancer that originates in the developing sympathetic nervous system. We previously reported a crucial role of mitochondrial DNA haplogroups in the pathology of neuroblastoma. To pinpoint mitochondrial DNA variants associated with neuroblastoma risk, we applied a mitochondrial genome imputation pipeline to the single nucleotide polymorphisms array data of 2 pediatric cohorts containing a total of 2404 neuroblastoma patients and 9310 cancer-free controls. All statistical tests were 2-sided. The single nucleotide variant, rs2853493, was statistically significantly associated with neuroblastoma risk in the discovery cohort (odds ratio = 0.62, 95% confidence interval = 0.53 to 0.72, P < .001) and further confirmed in the replication cohort (odds ratio = 0.75, 95% confidence interval = 0.62 to 0.90, P = .002). Further, expression quantitative trait loci analysis indicated genotypes of rs2853493 were associated with expression levels of MT-CYB gene expression in neuroblastoma cells, suggesting rs2853493 may confer risk to neuroblastoma via regulating the expression level of its nearby genes.

Indexed as

DNA, MitochondrialNeuroblastomaChildGenetic Predisposition to DiseaseGenotypeHumansMitochondriaPolymorphism, Single NucleotideDNA, Mitochondrial

Identifiers

PMID35134187
PMCPMC9194614
OpenAlexW4210777559

What OpenQuestion holds

Textmetadata
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.