Evidence map›Paper›PMID 36115539›Full record

ArticleMitochondrion2022

Mitochondrial DNA haplogroup, genetic ancestry, and susceptibility to Ewing sarcoma.

Kristiyana Kaneva, Theodore G Schurr, Tatiana V Tatarinova, Jonathan Buckley, Daria Merkurjev, Petr Triska, Xiyu Liu, James Done, Dennis T Maglinte, Dennis Deapen and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Mitochondrion, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. Observational
  3. Article
  4. Article
  5. Review
  6. Article
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

15 authors.

Kristiyana KanevaDivision of Hematology, Oncology, and Blood and Marrow Transplant Program, Children's Center for Cancer and Blood Diseases, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Theodore G SchurrDepartment of Anthropology, University of Pennsylvania, Philadelphia, PA, USA.
Tatiana V TatarinovaDepartment of Biology, University of La Verne, La Verne, CA, USA.
Jonathan BuckleyCenter for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Daria MerkurjevCenter for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Petr TriskaDepartment of Pediatric Hematology and Oncology, Charles University, Prague, Czech Republic.
Xiyu LiuDepartment of Translational Genomics, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
James DoneCenter for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Dennis T MaglinteCenter for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Dennis DeapenCancer Surveillance Program, Department of Preventive Medicine, University of Southern California, Los Angeles, CA, USA.
Amie HwangCancer Surveillance Program, Department of Preventive Medicine, University of Southern California, Los Angeles, CA, USA.
Joshua D SchiffmanDepartment of Pediatrics and Oncological Sciences, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA; PEEL Therapeutics, Inc., Salt Lake City, UT, USA.
Timothy J TricheCenter for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Jaclyn A BiegelCenter for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Xiaowu GaiCenter for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. Electronic address: xgai@chla.usc.edu.

Funding

Training Physician Scientists in Pediatric OncologyT32CA009659 · NCI · CHILDREN'S HOSPITAL OF LOS ANGELES · PI DECLERCK, YVES A · 1991 to 2020
$2.2M
NCI NIH HHS T32 CA009659
6 · The paper itself

Abstract

Based on current studies, the incidence of Ewing sarcoma (ES) varies significantly by race and ethnicity, with the disease being most common in patients of European ancestry. However, race/ethnicity has generally been self-reported rather than formally evaluated at a population level using DNA evidence. Additionally, mitochondrial dysfunction is a hallmark of ES, yet there have been no reported studies of mitochondrial genetics in ES. Thus, we evaluated both the mitochondrial and nuclear ancestries of 420 pediatric ES patients in the United States using whole-genome sequencing. We found that the mitochondrial DNA (mtDNA) genomes of only six (1.4 %) patients belonged to African L haplogroups, while those of 90 % of the patients belonged to macrohaplogroup R, which includes haplogroup H, the most common maternal lineage in Europe. Compared to the general US population, European haplogroups were significantly enriched in ES patients (p < 2.2e-16) and the African haplogroups are significantly impoverished (p < 4.6e-16). Using the ancestry informative markers defined in a National Genographic study, the vast majority of patients exhibited significant nuclear ancestry originating from the Mediterranean, Northern Europe, and Southwest Asia, including all six patients with African L mtDNAs. Very few had primarily African nuclear ancestry. This is the first genomic epidemiology study to simultaneously interrogate the mitochondrial and nuclear ancestries of ES patients. While supporting previous findings of enriched European ancestry in ES patients, these results also suggest alternative hypotheses for the significant contribution of mitochondrial ancestry in ES patients, as well as the protective role of African ancestry.

Indexed as

DNA, MitochondrialSarcoma, EwingBlack PeopleChildHaplotypesHumansMitochondriaDNA, Mitochondrial

Identifiers

PMID36115539
PMCPMC9997094

What OpenQuestion holds

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LicenceCC BY-NC-ND
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.