Evidence map›Paper›PMID 24753543›Full record

ArticleCarcinogenesis2014

Shared and independent colorectal cancer risk alleles in TGFβ-related genes in African and European Americans.

Sonia S Kupfer, Andrew D Skol, Ellie Hong, Anton Ludvik, Rick A Kittles, Temitope O Keku, Robert S Sandler, Nathan A Ellis

Open access · bronzeAbstract read
In one paragraph

Article in Carcinogenesis, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 3 pooled it
2.3field-weighted citation impact, top 11% 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

15 citing papers in PubMed, 3 syntheses or guidelines pooled it, 21 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Black-White disparities across the colorectal cancer care continuum in the USA.Nature reviews. Gastroenterology & hepatology · 2025
    Review
  5. Article
  6. Review
  7. Observational
  8. Article
  9. Low Referral Rate for Genetic Testing in Racially and Ethnically Diverse Patients Despite Universal Colorectal Cancer Screening.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2018
    Article
  10. Article
  11. Review
  12. Linking Race, Cancer Outcomes, and Tissue Repair.The American journal of pathology · 2018
    Review
  13. Review
  14. Review
  15. 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

8 authors at 3 institutions in 1 country.

Sonia S KupferDepartment of Medicine, University of Chicago Medicine, 900 E. 57th Street, MB #9, Chicago, IL 60637, USA, Department of Medicine, University of Illinois Chicago, 900 S. Ashland Avenue, MC 767, Chicago, IL 60607, USA, Department of Medicine, University of North Carolina, 130 Mason Farm Road, Bioinformatics Building CB# 7080, Chapel Hill, NC 27599, USA and Department of Cellular and Molecular Medicine, University of Arizona, 1515 N. Campbell Avenue, Tucson, AZ 85724, USA skupfer@medicine.bsd.uchicago.edu.
Andrew D SkolDepartment of Medicine, University of Chicago Medicine, 900 E. 57th Street, MB #9, Chicago, IL 60637, USA, Department of Medicine, University of Illinois Chicago, 900 S. Ashland Avenue, MC 767, Chicago, IL 60607, USA, Department of Medicine, University of North Carolina, 130 Mason Farm Road, Bioinformatics Building CB# 7080, Chapel Hill, NC 27599, USA and Department of Cellular and Molecular Medicine, University of Arizona, 1515 N. Campbell Avenue, Tucson, AZ 85724, USA.
Ellie HongDepartment of Medicine, University of Chicago Medicine, 900 E. 57th Street, MB #9, Chicago, IL 60637, USA, Department of Medicine, University of Illinois Chicago, 900 S. Ashland Avenue, MC 767, Chicago, IL 60607, USA, Department of Medicine, University of North Carolina, 130 Mason Farm Road, Bioinformatics Building CB# 7080, Chapel Hill, NC 27599, USA and Department of Cellular and Molecular Medicine, University of Arizona, 1515 N. Campbell Avenue, Tucson, AZ 85724, USA.
Anton LudvikDepartment of Medicine, University of Chicago Medicine, 900 E. 57th Street, MB #9, Chicago, IL 60637, USA, Department of Medicine, University of Illinois Chicago, 900 S. Ashland Avenue, MC 767, Chicago, IL 60607, USA, Department of Medicine, University of North Carolina, 130 Mason Farm Road, Bioinformatics Building CB# 7080, Chapel Hill, NC 27599, USA and Department of Cellular and Molecular Medicine, University of Arizona, 1515 N. Campbell Avenue, Tucson, AZ 85724, USA.
Rick A KittlesDepartment of Medicine, University of Illinois Chicago, 900 S. Ashland Avenue, MC 767, Chicago, IL 60607, USA.
Temitope O KekuDepartment of Medicine, University of North Carolina, 130 Mason Farm Road, Bioinformatics Building CB# 7080, Chapel Hill, NC 27599, USA and.
Robert S SandlerDepartment of Medicine, University of North Carolina, 130 Mason Farm Road, Bioinformatics Building CB# 7080, Chapel Hill, NC 27599, USA and.
Nathan A EllisDepartment of Cellular and Molecular Medicine, University of Arizona, 1515 N. Campbell Avenue, Tucson, AZ 85724, USA.
University of Chicago · USUniversity of North Carolina at Chapel Hill · USUniversity of Arizona · US

Funding

PILOT AND FEASIBILITY STUDIESP30DK034987 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Temitope O. Keku · 1985 to 2026
$30.5M
Re-Engineering Translational Research at the University of ChicagoUL1TR000430 · NCATS · UNIVERSITY OF CHICAGO · PI SOLWAY, JULIAN · 2012 to 2016
$20.2M
Population Study of Rectal Cancer in Blacks and WhitesR01CA066635 · NCI · UNIVERSITY OF NORTH CAROLINA CHAPEL HILL · PI SANDLER, ROBERT S · 1996 to 2005
$4.2M
Genetic risk factors in African American colorectal cancer patientsU01CA153060 · NCI · UNIVERSITY OF ILLINOIS AT CHICAGO · PI ELLIS, NATHAN A. · 2010 to 2014
$1.7M
Regulation of Homologous Recombination in Human CellsR01CA140804 · NCI · UNIVERSITY OF ILLINOIS AT CHICAGO · PI ELLIS, NATHAN A. · 2011 to 2015
$1.6M
Genetic Association Studies in African American Colorectal Cancer PatientsK08CA142892 · NCI · UNIVERSITY OF CHICAGO · PI KUPFER, SONIA · 2010 to 2014
$822k
NCATS NIH HHS UL1 TR000430NCI NIH HHS CA066635NCI NIH HHS K08 CA142892NCI NIH HHS K08CA142892NCI NIH HHS R01 CA066635NCI NIH HHS R01 CA140804NCI NIH HHS R01CA140804NCI NIH HHS U01 CA153060NCI NIH HHS U01CA153060NIDDK NIH HHS P30 DK034987NIDDK NIH HHS P30DK034987
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) in colorectal cancer (CRC) identified five regions near transforming growth factor β-related genes BMP4, GREM1, CDH1, SMAD7 and RPHN2. The true risk alleles remain to be identified in these regions, and their role in CRC risk in non-European populations has been understudied. Our previous work noted significant genetic heterogeneity between African Americans (AAs) and European Americans (EAs) for single nucleotide polymorphisms (SNPs) identified in GWAS. We hypothesized that associations may not have been replicated in AAs due to differential or independent genetic structures. In order to test this hypothesis, we genotyped 195 tagging SNPs across these five gene regions in 1194 CRC cases (795 AAs and 399 EAs) and 1352 controls (985 AAs and 367 EAs). Imputation was performed, and association testing of genotyped and imputed SNPs included ancestry, age and sex as covariates. In two of the five genes originally associated with CRC, we found evidence for association in AAs including rs1862748 in CDH1 (OR(Add) = 0.82, P = 0.02) and in GREM1 the SNPs rs10318 (OR(Rec) = 60.1, P = 0.01), rs11632715 (OR(Rec) = 2.36; P = 0.004) and rs12902616 (OR(Rec) = 1.28, P = 0.005), the latter which is in linkage disequilibrium with the previously identified SNP rs4779584. Testing more broadly for associations in these gene regions in AAs, we noted three statistically significant association peaks in GREM1 and RHPN2 that were not identified in EAs. We conclude that some CRC risk alleles are shared between EAs and AAs and others are population specific.

Indexed as

Adaptor Proteins, Signal TransducingAgedAllelesAntigens, CDBlack or African AmericanBone Morphogenetic Protein 4CadherinsCase-Control StudiesColorectal NeoplasmsFemaleGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIntercellular Signaling Peptides and ProteinsLinkage DisequilibriumAdaptor Proteins, Signal TransducingAntigens, CDBMP4 protein, humanBone Morphogenetic Protein 4CadherinsCDH1 protein, humanGREM1 protein, humanIntercellular Signaling Peptides and ProteinsRHPN2 protein, humanSmad7 ProteinSMAD7 protein, human

Identifiers

PMID24753543
PMCPMC4146413
OpenAlexW2108490637

What OpenQuestion holds

Textmetadata
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.