Evidence map›Paper›PMID 24218287›Full record

ArticleHuman genetics2014

A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer.

C Fernandez-Rozadilla, J B Cazier, I Tomlinson, A Brea-Fernández, M J Lamas, M Baiget, L A López-Fernández, J Clofent, L Bujanda, D Gonzalez and 13 more

Open access · greenAbstract read
PubMed Publisher
In one paragraph

Article in Human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
2.8field-weighted citation impact, top 9% 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

12 citing papers in PubMed, 22 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Candidate predisposing germline copy number variants in early onset colorectal cancer patients.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2017
    Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Red meat intake, NAT2, and risk of colorectal cancer: a pooled analysis of 11 studies.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2015
    Article
  11. Genetic unraveling of colorectal cancer.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014
    Review
  12. 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

23 authors at 16 institutions in 6 countries.

C Fernandez-RozadillaFundación Pública Galega de Medicina Xenómica (FPGMX)-SERGAS, Grupo de Medicina Xenómica, IDIS, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERer), Complexo Hospitalario Universitario de Santiago, Choupana s/n, 15706, Santiago, Spain.
J B Cazier
I Tomlinson
A Brea-Fernández
M J Lamas
M Baiget
L A López-Fernández
J Clofent
L Bujanda
D Gonzalez
L de Castro
EPICOLON Consortium
K Hemminki
X Bessa
M Andreu
R Jover
R Xicola
X Llor
V Moreno
A Castells
S Castellví-Bel
A Carracedo
C Ruiz-Ponte
Centre for Biomedical Network Research on Rare Diseases · ESFundación Pública Galega de Medicina Xenómica · ESHospital Del Mar · ESHospital de Sant Pau · ESUniversity of Illinois Chicago · USBiogipuzkoa Health Research Institute · ESComplejo Hospitalario Universitario de Santiago · ESConsorci Institut D'Investigacions Biomediques August Pi I Sunyer · ESGerman Cancer Research Center · DEHospital de Sagunto · ESHospital General Universitario de Alicante Doctor Balmis · ESHospital General Universitario Gregorio Marañón · ESInstitut Català d'Oncologia · ESOxford Research Group · GBUniversitat de Barcelona · ESUniversity of Oxford · GB

Funding

Cancer Research UK 16459Wellcome Trust 075491/Z/04Wellcome Trust 090532
6 · The paper itself

Abstract

Colorectal cancer (CRC) is a complex disease, and therefore its development is determined by the combination of both environmental factors and genetic variants. Although genome-wide association studies (GWAS) of SNP variation have conveniently identified 20 genetic variants so far, a significant proportion of the observed heritability is yet to be explained. Common copy-number variants (CNVs) are one of the most important genomic sources of variability, and hence a potential source to explain part of this missing genetic fraction. Therefore, we have performed a GWAS on CNVs to explore the relationship between common structural variation and CRC development. Phase 1 of the GWAS consisted of 881 cases and 667 controls from a Spanish cohort. Copy-number status was validated by quantitative PCR for each of those common CNVs potentially associated with CRC in phase I. Subsequently, SNPs were chosen as proxies for the validated CNVs for phase II replication (1,342 Spanish cases and 1,874 Spanish controls). Four common CNVs were found to be associated with CRC and were further replicated in Phase II. Finally, we found that SNP rs1944682, tagging a 11q11 CNV, was nominally associated with CRC susceptibility (p value = 0.039; OR = 1.122). This locus has been previously related to extreme obesity phenotypes, which could suggest a relationship between body weight and CRC susceptibility.

Indexed as

Chromosomes, Human, Pair 11Gene DosageGenetic Predisposition to DiseaseGenome-Wide Association StudyColorectal NeoplasmsHumansPolymorphism, Single Nucleotide

Identifiers

PMID24218287
OpenAlexW2164332345

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.