ArticleCarcinogenesis2014
A novel colorectal cancer risk locus at 4q32.2 identified from an international genome-wide association study.
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Article in Carcinogenesis, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
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24citing papers in PubMed, 2 pooled it
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 32 citations in OpenAlex.
- Developing and validating polygenic risk scores for colorectal cancer risk prediction in East Asians.International journal of cancer · 2022Pooled it
- Genome-wide association study of colorectal cancer identifies six new susceptibility loci.Nature communications · 2015Pooled it
- Case Report: Proteomic analysis of cerebrospinal fluid in a retinoblastoma patient.Frontiers in oncology · 2025Article
- Prioritization of risk genes in colorectal cancer by integrative analysis of multi-omics data and gene networks.Science China. Life sciences · 2024Article
- Colorectal cancer-associated SNP rs17042479 is involved in the regulation of NAF1 promoter activity.PloS one · 2022Article
- Repurposing non-invasive prenatal testing data: Population study of single nucleotide variants associated with colorectal cancer and Lynch syndrome.Oncology letters · 2021Article
- Follistatin-Like Proteins: Structure, Functions and Biomedical Importance.Biomedicines · 2021Review
- Multi-omics analysis to identify susceptibility genes for colorectal cancer.Human molecular genetics · 2021Article
- Identifying Novel Susceptibility Genes for Colorectal Cancer Risk From a Transcriptome-Wide Association Study of 125,478 Subjects.Gastroenterology · 2021Article
- Development of a Clinical and Genetic Prediction Model for Early Intestinal Resection in Patients with Crohn's Disease: Results from the IMPACT Study.Journal of clinical medicine · 2021Article
- The Impact of a Comprehensive Risk Prediction Model for Colorectal Cancer on a Population Screening Program.JNCI cancer spectrum · 2020Article
- Ability of known susceptibility SNPs to predict colorectal cancer risk for persons with and without a family history.Familial cancer · 2019Article
- Association analyses identify 31 new risk loci for colorectal cancer susceptibility.Nature communications · 2019Article
- Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.Oncotarget · 2017Article
- Japanese genome-wide association study identifies a significant colorectal cancer susceptibility locus at chromosome 10p14.Cancer science · 2017Article
- Evaluation of genetic variants in association with colorectal cancer risk and survival in Asians.International journal of cancer · 2017Article
- In silico pathway analysis and tissue specific cis-eQTL for colorectal cancer GWAS risk variants.BMC genomics · 2017Article
- Modeling the prevention of colorectal cancer from the combined impact of host and behavioral risk factors.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery.Cellular oncology (Dordrecht, Netherlands) · 2016Review
- Genome-wide association study of colorectal cancer in Hispanics.Carcinogenesis · 2016Article
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Authors and funding
20 authors at 10 institutions in 4 countries.
Stephanie L SchmitUSC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA 90089, USA, Vanderbilt Epidemiology Center, Vanderbilt University, Nashville, TN 37232, USA, Department of Community Medicine and Epidemiology, Carmel Medical Center, Haifa, Israel, Clalit Health Services, National Cancer Control Center, Haifa, Israel, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia, Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Victoria, Australia, Department of Health Science Research, Mayo Clinic Arizona, Scottsdale, 8525 AZ, USA, Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI 96813, USA, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada, Department of Medicine, Division of Oncology, Stanford University, Stanford, CA 94305, USA, Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Fredrick R SchumacherUSC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA 90089, USA, Vanderbilt Epidemiology Center, Vanderbilt University, Nashville, TN 37232, USA, Department of Community Medicine and Epidemiology, Carmel Medical Center, Haifa, Israel, Clalit Health Services, National Cancer Control Center, Haifa, Israel, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia, Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Victoria, Australia, Department of Health Science Research, Mayo Clinic Arizona, Scottsdale, 8525 AZ, USA, Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI 96813, USA, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada, Department of Medicine, Division of Oncology, Stanford University, Stanford, CA 94305, USA, Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Christopher K EdlundUSC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA 90089, USA, Vanderbilt Epidemiology Center, Vanderbilt University, Nashville, TN 37232, USA, Department of Community Medicine and Epidemiology, Carmel Medical Center, Haifa, Israel, Clalit Health Services, National Cancer Control Center, Haifa, Israel, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia, Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Victoria, Australia, Department of Health Science Research, Mayo Clinic Arizona, Scottsdale, 8525 AZ, USA, Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI 96813, USA, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada, Department of Medicine, Division of Oncology, Stanford University, Stanford, CA 94305, USA, Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
David V ContiUSC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA 90089, USA, Vanderbilt Epidemiology Center, Vanderbilt University, Nashville, TN 37232, USA, Department of Community Medicine and Epidemiology, Carmel Medical Center, Haifa, Israel, Clalit Health Services, National Cancer Control Center, Haifa, Israel, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia, Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Victoria, Australia, Department of Health Science Research, Mayo Clinic Arizona, Scottsdale, 8525 AZ, USA, Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI 96813, USA, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada, Department of Medicine, Division of Oncology, Stanford University, Stanford, CA 94305, USA, Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Leon RaskinVanderbilt Epidemiology Center, Vanderbilt University, Nashville, TN 37232, USA.
Flavio LejbkowiczDepartment of Community Medicine and Epidemiology, Carmel Medical Center, Haifa, Israel, Clalit Health Services, National Cancer Control Center, Haifa, Israel.
Mila PinchevDepartment of Community Medicine and Epidemiology, Carmel Medical Center, Haifa, Israel, Clalit Health Services, National Cancer Control Center, Haifa, Israel.
Hedy S RennertDepartment of Community Medicine and Epidemiology, Carmel Medical Center, Haifa, Israel, Clalit Health Services, National Cancer Control Center, Haifa, Israel.
Mark A JenkinsCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia.
Daniel D BuchananOncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Victoria, Australia.
Noralane M LindorDepartment of Health Science Research, Mayo Clinic Arizona, Scottsdale, 8525 AZ, USA.
Loic Le MarchandEpidemiology Program, University of Hawaii Cancer Center, Honolulu, HI 96813, USA.
Steven GallingerSamuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada.
Robert W HaileDepartment of Medicine, Division of Oncology, Stanford University, Stanford, CA 94305, USA.
Polly A NewcombCancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA and.
Shu-Chen HuangUSC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA 90089, USA, Vanderbilt Epidemiology Center, Vanderbilt University, Nashville, TN 37232, USA, Department of Community Medicine and Epidemiology, Carmel Medical Center, Haifa, Israel, Clalit Health Services, National Cancer Control Center, Haifa, Israel, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia, Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Victoria, Australia, Department of Health Science Research, Mayo Clinic Arizona, Scottsdale, 8525 AZ, USA, Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI 96813, USA, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada, Department of Medicine, Division of Oncology, Stanford University, Stanford, CA 94305, USA, Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Gad RennertDepartment of Community Medicine and Epidemiology, Carmel Medical Center, Haifa, Israel, Clalit Health Services, National Cancer Control Center, Haifa, Israel, Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Graham CaseyUSC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA 90089, USA, Vanderbilt Epidemiology Center, Vanderbilt University, Nashville, TN 37232, USA, Department of Community Medicine and Epidemiology, Carmel Medical Center, Haifa, Israel, Clalit Health Services, National Cancer Control Center, Haifa, Israel, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia, Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Victoria, Australia, Department of Health Science Research, Mayo Clinic Arizona, Scottsdale, 8525 AZ, USA, Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI 96813, USA, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada, Department of Medicine, Division of Oncology, Stanford University, Stanford, CA 94305, USA, Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Stephen B GruberUSC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA 90089, USA, Vanderbilt Epidemiology Center, Vanderbilt University, Nashville, TN 37232, USA, Department of Community Medicine and Epidemiology, Carmel Medical Center, Haifa, Israel, Clalit Health Services, National Cancer Control Center, Haifa, Israel, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia, Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Victoria, Australia, Department of Health Science Research, Mayo Clinic Arizona, Scottsdale, 8525 AZ, USA, Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI 96813, USA, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada, Department of Medicine, Division of Oncology, Stanford University, Stanford, CA 94305, USA, Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel sgruber@usc.edu.
Vanderbilt University Medical Center · USUniversity of Melbourne · AUCarmel Medical Center · ILClalit Health Services · ILFred Hutch Cancer Center · USLunenfeld-Tanenbaum Research Institute · CAMayo Clinic in Arizona · USStanford University · USUniversity of Hawaii Cancer CenterVanderbilt University · US
Funding
USC/NORRIS COMPREHENSIVE CANCER CENTER (CORE) SUPPORTP30CA014089 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Fumito Ito · 1985 to 2026
$181.4MWomen's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI Felicity Enders · 1985 to 2026
$151.3MTranslational Analysis CoreP30DK058404 · NIDDK · VANDERBILT UNIVERSITY MEDICAL CENTER · PI RICHARD M. PEEK · 2002 to 2026
$29.9MUSC Consortium:Colorectal Cancer Family RegistryU01CA074799 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HAILE, ROBERT WILLIAM · 1997 to 2008
$20.4MUniversity of Michigan Training Program in Genomic ScienceT32HG000040 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Sebastian Zoellner · 1995 to 2026
$16.4MSEATTLE FAMILIAL COLORECTAL CANCER REGISTRYU01CA074794 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI NEWCOMB, POLLY A · 1997 to 2007
$14.1MONTARIO REGISTRY FOR STUDIES OF FAMILIAL COLON CANCERU01CA074783 · NCI · CANCER CARE ONTARIO · PI GALLINGER, STEVEN · 1997 to 2008
$12.5MColon Cancer Family Registry CohortUM1CA167551 · NCI · STANFORD UNIVERSITY · PI HAILE, ROBERT WILLIAM, JENKINS, MARK A · 2013 to 2017
$11.3MTransdisciplinary Studies of Genetic Variation in Colorectal CancerU19CA148107 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI GRUBER, STEPHEN B · 2010 to 2014
$11.1MMOLECULAR EPIDEMIOLOGY OF COLORECTAL CANCERR01CA081488 · NCI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI GRUBER, STEPHEN B · 1999 to 2008
$9.2MFAMILIAL COLORECTAL NEOPLASIA COLLABORATIVE GROUPU01CA074800 · NCI · MAYO CLINIC ROCHESTER · PI LINDOR, NORALANE MOREY · 1997 to 2007
$9.1MInherited colorectal cancer risk variants: from association to biologyR01CA143237 · NCI · UNIVERSITY OF VIRGINIA · PI CASEY, GRAHAM · 2010 to 2020
$8.4MNCI NIH HHS CA-95-011NCI NIH HHS P30CA014089NCI NIH HHS P30 CA015083NCI NIH HHS R01 CA143237NCI NIH HHS R01 CA81488NCI NIH HHS U01 CA074783NCI NIH HHS U01 CA074794NCI NIH HHS U01 CA074799NCI NIH HHS U01 CA074800NCI NIH HHS U01 CA074806NCI NIH HHS U01 CA097735NCI NIH HHS U01 CA122839NCI NIH HHS U01CA122839NCI NIH HHS U19 CA148107NCI NIH HHS U24 CA074783NCI NIH HHS U24 CA074794NCI NIH HHS U24 CA074799NCI NIH HHS U24 CA074800NCI NIH HHS U24 CA074806NCI NIH HHS U24 CA097735NCI NIH HHS UM1 CA167551NHGRI NIH HHS T32 HG000040NIDDK NIH HHS P30 DK058404NIEHS NIH HHS T32 ES013678
Abstract
Only a fraction of colorectal cancer heritability is explained by known risk-conferring genetic variation. This study was designed to identify novel risk alleles in Europeans. We conducted a genome-wide association study (GWAS) meta-analysis of colorectal cancer in participants from a population-based case-control study in Israel (n = 1616 cases, 1329 controls) and a consortium study from the Colon Cancer Family Registry (n = 1977 cases, 999 controls). We used a two-stage (discovery-replication) GWAS design, followed by a joint meta-analysis. A combined analysis identified a novel susceptibility locus that reached genome-wide significance on chromosome 4q32.2 [rs35509282, risk allele = A (minor allele frequency = 0.09); odds ratio (OR) per risk allele = 1.53; P value = 8.2 × 10(-9); nearest gene = FSTL5]. The direction of the association was consistent across studies. In addition, we confirmed that 14 of 29 previously identified susceptibility variants were significantly associated with risk of colorectal cancer in this study. Genetic variation on chromosome 4q32.2 is significantly associated with risk of colorectal cancer in Ashkenazi Jews and Europeans in this study.
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CarcinogenesisGenetic Predisposition to DiseaseGenome-Wide Association StudyAgedAged, 80 and overCase-Control StudiesChromosomes, Human, Pair 4Colorectal NeoplasmsEthnicityFemaleGene FrequencyGenotypeHumansMaleMiddle AgedPolymorphism, Single Nucleotide
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