Evidence map›Paper›PMID 22941191›Full record

ArticleNature genetics2012

Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.

Sharon J Diskin, Mario Capasso, Robert W Schnepp, Kristina A Cole, Edward F Attiyeh, Cuiping Hou, Maura Diamond, Erica L Carpenter, Cynthia Winter, Hanna Lee and 6 more

Abstract read
In one paragraph

Article in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 184 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
184citing papers in PubMed, 7 pooled it
13.8field-weighted citation impact, top 1% 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

184 citing papers in PubMed, 7 syntheses or guidelines pooled it, 270 citations in OpenAlex.

  1. Pooled it
  2. HGG advances · 2023
    Pooled it
  3. Pooled it
  4. Pooled it
  5. Evaluation of Genetic Predisposition for MYCN-Amplified Neuroblastoma.Journal of the National Cancer Institute · 2017
    Pooled it
  6. Pooled it
  7. Pooled it
  8. Review
  9. Review
  10. Article
  11. Article
  12. Associations ofTranslational pediatrics · 2025
    Article
  13. Article
  14. Genetic variants of mHuman genomics · 2025
    Article
  15. Article
  16. Article
  17. Article
  18. Review
  19. Review
  20. Review

124 more citing papers are in PubMed but not listed here.

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

16 authors at 4 institutions in 2 countries.

Sharon J DiskinDivision of Oncology, Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Mario Capasso
Robert W Schnepp
Kristina A Cole
Edward F Attiyeh
Cuiping Hou
Maura Diamond
Erica L Carpenter
Cynthia Winter
Hanna Lee
Jayanti Jagannathan
Valeria Latorre
Achille Iolascon
Hakon Hakonarson
Marcella Devoto
John M Maris
Children's Hospital of Philadelphia · USUniversity of Pennsylvania · USUniversity of Naples Federico II · ITUniversity of Calabria · IT

Funding

TRANSGENIC MOUSE MODELS OF MENTAL RETARDATIONP30HD026979 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI FALK, MARNI J · 1990 to 2015
$15.3M
The Genetic Basis of Neuroblastoma TumorigenesisR01CA124709 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI MARIS, JOHN M · 2008 to 2017
$6.3M
Translational Genomics of MicroRNAs in NeuroblastomaK08CA136979 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI COLE, KRISTINA ANN · 2009 to 2013
$798k
Copy number variations (CNVs) in neuroblastomaR00CA151869 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI DISKIN, SHARON · 2012 to 2014
$707k
Copy number variations (CNVs) in neuroblastomaK99CA151869 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI DISKIN, SHARON · 2010 to 2011
$346k
NCI NIH HHS K08 CA136979NCI NIH HHS K08-CA136979NCI NIH HHS K99 CA151869NCI NIH HHS K99-CA151869NCI NIH HHS R00 CA151869NCI NIH HHS R01 CA124709NCI NIH HHS R01-CA124709NICHD NIH HHS P30 HD026979NICHD NIH HHS P30-HD026979
6 · The paper itself

Abstract

Neuroblastoma is a cancer of the sympathetic nervous system that accounts for approximately 10% of all pediatric oncology deaths. Here, we report a genome-wide association study of 2,817 neuroblastoma cases and 7,473 controls. We identified two new associations at 6q16, the first within HACE1 (rs4336470; combined P=2.7×10(-11); odds ratio 1.26, 95% confidence interval (CI) 1.18-1.35) and the second within LIN28B (rs17065417; combined P=1.2×10(-8); odds ratio 1.38, 95% CI 1.23-1.54). Expression of LIN28B and let-7 miRNA correlated with rs17065417 genotype in neuroblastoma cell lines, and we observed significant growth inhibition upon depletion of LIN28B, specifically in neuroblastoma cells that were homozygous for the risk allele. Low HACE1 and high LIN28B expression in diagnostic primary neuroblastomas were associated with worse overall survival (P=0.008 and 0.014, respectively). Taken together, these data show that common variants in HACE1 and LIN28B influence neuroblastoma susceptibility and indicate that both genes likely have a role in disease progression.

Indexed as

Polymorphism, Single NucleotideCase-Control StudiesCell Line, TumorCell ProliferationChromosomes, Human, Pair 6Cohort StudiesDNA-Binding ProteinsGene ExpressionGene FrequencyGene Knockdown TechniquesGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansInfantKaplan-Meier EstimateLinkage DisequilibriumDNA-Binding ProteinsHACE1 protein, humanLIN28B protein, humanRNA-Binding ProteinsUbiquitin-Protein Ligases

Identifiers

PMID22941191
PMCPMC3459292
OpenAlexW2079957854

What OpenQuestion holds

Textmetadata
LicenceTDM
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.