Evidence map›Paper›PMID 22532847›Full record

ArticlePloS one2012

Pooled sample-based GWAS: a cost-effective alternative for identifying colorectal and prostate cancer risk variants in the Polish population.

Pawel Gaj, Natalia Maryan, Ewa E Hennig, Joanna K Ledwon, Agnieszka Paziewska, Aneta Majewska, Jakub Karczmarski, Monika Nesteruk, Jan Wolski, Artur A Antoniewicz and 7 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
3.3field-weighted citation impact, top 8% 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

23 citing papers in PubMed, 37 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. Using pooled data for genomic prediction in a bivariate framework with missing data.Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie · 2022
    Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Mutation Profiling of Premalignant Colorectal Neoplasia.Gastroenterology research and practice · 2019
    Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. The Immunogenetics of Autoimmune Cholestasis.Clinics in liver disease · 2016
    Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. 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

17 authors at 4 institutions in 2 countries.

Pawel GajDepartment of Gastroenterology and Hepatology, Medical Center for Postgraduate Education, Warsaw, Poland.
Natalia Maryan
Ewa E Hennig
Joanna K Ledwon
Agnieszka Paziewska
Aneta Majewska
Jakub Karczmarski
Monika Nesteruk
Jan Wolski
Artur A Antoniewicz
Krzysztof Przytulski
Andrzej Rutkowski
Alexander Teumer
Georg Homuth
Teresa Starzyńska
Jaroslaw Regula
Jerzy Ostrowski
Postgraduate School of Molecular Medicine · PLThe Maria Sklodowska-Curie National Research Institute of Oncology · PLUniversität Greifswald · DEPomeranian Medical University · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundProstate cancer (PCa) and colorectal cancer (CRC) are the most commonly diagnosed cancers and cancer-related causes of death in Poland. To date, numerous single nucleotide polymorphisms (SNPs) associated with susceptibility to both cancer types have been identified, but their effect on disease risk may differ among populations.

methodsTo identify new SNPs associated with PCa and CRC in the Polish population, a genome-wide association study (GWAS) was performed using DNA sample pools on Affymetrix Genome-Wide Human SNP 6.0 arrays. A total of 135 PCa patients and 270 healthy men (PCa sub-study) and 525 patients with adenoma (AD), 630 patients with CRC and 690 controls (AD/CRC sub-study) were included in the analysis. Allele frequency distributions were compared with t-tests and χ(2)-tests. Only those significantly associated SNPs with a proxy SNP (p<0.001; distance of 100 kb; r(2)>0.7) were selected. GWAS marker selection was conducted using PLINK. The study was replicated using extended cohorts of patients and controls. The association with previously reported PCa and CRC susceptibility variants was also examined. Individual patients were genotyped using TaqMan SNP Genotyping Assays.

resultsThe GWAS selected six and 24 new candidate SNPs associated with PCa and CRC susceptibility, respectively. In the replication study, 17 of these associations were confirmed as significant in additive model of inheritance. Seven of them remained significant after correction for multiple hypothesis testing. Additionally, 17 previously reported risk variants have been identified, five of which remained significant after correction.

conclusionPooled-DNA GWAS enabled the identification of new susceptibility loci for CRC in the Polish population. Previously reported CRC and PCa predisposition variants were also identified, validating the global nature of their associations. Further independent replication studies are required to confirm significance of the newly uncovered candidate susceptibility loci.

Indexed as

Genetic Predisposition to DiseasePolymorphism, Single NucleotideAdultAgedAged, 80 and overColorectal NeoplasmsCost-Benefit AnalysisFemaleGene FrequencyGenome-Wide Association StudyHumansMaleMiddle AgedPolandProstatic NeoplasmsRisk Factors

Identifiers

PMID22532847
PMCPMC3331859
OpenAlexW2092344319

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.