Evidence map›Paper›PMID 23243203›Full record

ArticleJournal of the National Cancer Institute2013

Trans-population analysis of genetic mechanisms of ethnic disparities in neuroblastoma survival.

Eric R Gamazon, Navin Pinto, Anuar Konkashbaev, Hae Kyung Im, Sharon J Diskin, Wendy B London, John M Maris, M Eileen Dolan, Nancy J Cox, Susan L Cohn

Open access · bronzeAbstract read
In one paragraph

Article in Journal of the National Cancer Institute, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 2 pooled it
2.5field-weighted citation impact, top 12% 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

19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 38 citations in OpenAlex.

  1. Pooled it
  2. Evaluation of Genetic Predisposition for MYCN-Amplified Neuroblastoma.Journal of the National Cancer Institute · 2017
    Pooled it
  3. Review
  4. Article
  5. Article
  6. Genetic Analysis in African American Children Supports Ancestry-Specific Neuroblastoma Susceptibility.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022
    Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Genetic Predisposition to Neuroblastoma.Children (Basel, Switzerland) · 2018
    Review
  12. Article
  13. Genetic susceptibility to neuroblastoma.Current opinion in genetics & development · 2017
    Review
  14. Article
  15. Review
  16. Advances in Risk Classification and Treatment Strategies for Neuroblastoma.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2015
    Review
  17. Toward the Cure of All Children With Cancer Through Collaborative Efforts: Pediatric Oncology As a Global Challenge.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2015
    Review
  18. Article
  19. 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

10 authors at 1 institution in 1 country.

Eric R GamazonSection of Genetic Medicine, University of Chicago, 900 E 57th St, Rm 3220F, Chicago, IL 60637, USA.
Navin Pinto
Anuar Konkashbaev
Hae Kyung Im
Sharon J Diskin
Wendy B London
John M Maris
M Eileen Dolan
Nancy J Cox
Susan L Cohn
University of Chicago · US

Funding

UNIVERSITY OF PENNSYLVANIA CAN CTR SUPPORT GRANTP30CA016520 · NCI · UNIVERSITY OF PENNSYLVANIA · PI Robert H. Vonderheide · 1985 to 2026
$222.3M
Whole GenomeU01GM061393 · NIGMS · UNIVERSITY OF CHICAGO · PI RATAIN, MARK J · 2000 to 2014
$39.0M
The Genetic Basis of Neuroblastoma TumorigenesisR01CA124709 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI MARIS, JOHN M · 2008 to 2017
$6.3M
ISOLATION OF THE NEUROBLASTOMA PREDISPOSITION GENER01CA078545 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI MARIS, JOHN M · 1998 to 2006
$1.9M
Rare Variants and Complex Human PhenotypesU01HG005773 · NHGRI · UNIVERSITY OF CHICAGO · PI COX, NANCY J · 2010 to 2011
$896k
Using the Transcriptome for SNP and Gene AnnotationR01MH090937 · NIMH · UNIVERSITY OF CHICAGO · PI COX, NANCY J, NICOLAE, DAN LIVIU · 2010 to 2012
$825k
Copy number variations (CNVs) in neuroblastomaR00CA151869 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI DISKIN, SHARON · 2012 to 2014
$707k
NCI NIH HHS P30 CA016520NCI NIH HHS R00 CA151869NCI NIH HHS R01 CA078545NCI NIH HHS R01 CA124709NHGRI NIH HHS U01 HG005773NIGMS NIH HHS U01 GM061393NIGMS NIH HHS U01 GM61393NIMH NIH HHS R01 MH090937
6 · The paper itself

Abstract

backgroundBlack patients with neuroblastoma have a higher prevalence of high-risk disease and worse outcome than white patients. We sought to investigate the relationship between genetic variation and the disparities in survival observed in neuroblastoma.

methodsThe analytic cohort was composed of 2709 patients. Principal components were used to assign patients to genomic ethnic clusters for survival analyses. Locus-specific ancestry was calculated for use in association analysis. The shorter spans of linkage disequilibrium in African populations may facilitate the fine mapping of causal variants in regions previously implicated by genome-wide association studies conducted primarily in patients of European descent. Thus, we evaluated 13 single nucleotide polymorphisms known to be associated with susceptibility to high-risk neuroblastoma from genome-wide association studies and all variants with highly divergent allele frequencies in reference African and European populations near the known susceptibility loci. All statistical tests were two-sided.

resultsAfrican genomic ancestry was associated with high-risk neuroblastoma (P = .007) and lower event-free survival (P = .04, hazard ratio = 1.4, 95% confidence interval = 1.05 to 1.80). rs1033069 within SPAG16 (sperm associated antigen 16) was determined to have higher risk allele frequency in the African reference population and statistically significant association with high-risk disease in patients of European and African ancestry (P = 6.42 × 10(-5), false discovery rate < 0.0015) in the overall cohort. Multivariable analysis using an additive model demonstrated that the SPAG16 single nucleotide polymorphism contributes to the observed ethnic disparities in high-risk disease and survival.

conclusionsOur study demonstrates that common genetic variation influences neuroblastoma phenotype and contributes to the ethnic disparities in survival observed and illustrates the value of trans-population mapping.

Indexed as

Polymorphism, Single NucleotideBlack or African AmericanChild, PreschoolFemaleGene FrequencyGenetic Predisposition to DiseaseGenotypeHumansInfantKaplan-Meier EstimateMaleMicrotubule-Associated ProteinsMultivariate AnalysisNeuroblastomaOdds RatioRiskMicrotubule-Associated ProteinsSPAG16 protein, human

Identifiers

PMID23243203
PMCPMC3691940
OpenAlexW2028935623

What OpenQuestion holds

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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.