Evidence map›Paper›PMID 28545128›Full record

ArticlePLoS genetics2017

Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma.

Lee D McDaniel, Karina L Conkrite, Xiao Chang, Mario Capasso, Zalman Vaksman, Derek A Oldridge, Anna Zachariou, Millicent Horn, Maura Diamond, Cuiping Hou and 5 more

Open access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
55citing papers in PubMed, 2 pooled it
6.7field-weighted citation impact, top 3% 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

55 citing papers in PubMed, 2 syntheses or guidelines pooled it, 84 citations in OpenAlex.

  1. HGG advances · 2023
    Pooled it
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  20. bioRxiv : the preprint server for biology · 2023
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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

15 authors at 4 institutions in 3 countries.

Lee D McDanielDivision of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.ORCID http://orcid.org/0000-0003-1036-613X
Karina L ConkriteDivision of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.ORCID http://orcid.org/0000-0002-2064-6947
Xiao ChangThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.
Mario CapassoUniversity of Naples Federico II, Naples, Italy.
Zalman VaksmanDivision of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.
Derek A OldridgeDivision of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.ORCID http://orcid.org/0000-0003-2177-5633
Anna ZachariouDivision of Genetics and Epidemiology, Institute of Cancer Research, London, United Kingdom.
Millicent HornDivision of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.
Maura DiamondDivision of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.
Cuiping HouThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.
Achille IolasconUniversity of Naples Federico II, Naples, Italy.
Hakon HakonarsonThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.
Nazneen RahmanDivision of Genetics and Epidemiology, Institute of Cancer Research, London, United Kingdom.
Marcella DevotoDepartment of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States of America.ORCID http://orcid.org/0000-0002-4431-5114
Sharon J DiskinDivision of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.ORCID http://orcid.org/0000-0002-7200-8939
Children's Hospital of Philadelphia · USInstitute of Cancer Research · GBCeinge Biotecnologie Avanzate (Italy) · ITSDN Istituto di Ricerca Diagnostica e Nucleare · IT

Funding

TRANSGENIC MOUSE MODELS OF MENTAL RETARDATIONP30HD026979 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI ROBERTS, TIMOTHY P · 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
Structural Variation in NeuroblastomaR01CA204974 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI DISKIN, SHARON · 2016 to 2020
$1.9M
Copy number variations (CNVs) in neuroblastomaR00CA151869 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI DISKIN, SHARON · 2012 to 2014
$707k
NCI NIH HHS R00 CA151869NCI NIH HHS R01 CA124709NCI NIH HHS R01 CA204974NICHD NIH HHS P30 HD026979Wellcome Trust
6 · The paper itself

Abstract

Neuroblastoma is a cancer of the developing sympathetic nervous system that most commonly presents in young children and accounts for approximately 12% of pediatric oncology deaths. Here, we report on a genome-wide association study (GWAS) in a discovery cohort or 2,101 cases and 4,202 controls of European ancestry. We identify two new association signals at 3q25 and 4p16 that replicated robustly in multiple independent cohorts comprising 1,163 cases and 4,396 controls (3q25: rs6441201 combined P = 1.2x10-11, Odds Ratio 1.23, 95% CI:1.16-1.31; 4p16: rs3796727 combined P = 1.26x10-12, Odds Ratio 1.30, 95% CI: 1.21-1.40). The 4p16 signal maps within the carboxypeptidase Z (CPZ) gene. The 3q25 signal resides within the arginine/serine-rich coiled-coil 1 (RSRC1) gene and upstream of the myeloid leukemia factor 1 (MLF1) gene. Increased expression of MLF1 was observed in neuroblastoma cells homozygous for the rs6441201 risk allele (P = 0.02), and significant growth inhibition was observed upon depletion of MLF1 (P < 0.0001) in neuroblastoma cells. Taken together, we show that common DNA variants within CPZ at 4p16 and upstream of MLF1 at 3q25 influence neuroblastoma susceptibility and MLF1 likely plays an important role in neuroblastoma tumorigenesis.

Indexed as

Polymorphism, Single NucleotideCarboxypeptidasesCase-Control StudiesCell Cycle ProteinsCell Line, TumorCell ProliferationChromosomes, Human, Pair 3Chromosomes, Human, Pair 4DNA-Binding ProteinsFemaleGene SilencingHomozygoteHumansMaleNeuroblastomaNuclear ProteinsCarboxypeptidasesCell Cycle ProteinsCPZ protein, humanDNA-Binding ProteinsMLF1 protein, humanNuclear ProteinsProteinsRSRC1 protein, human

Identifiers

PMID28545128
PMCPMC5456408
OpenAlexW2615250571

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.