ArticleHuman genetics2015
A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1.
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Article in Human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22citing papers in PubMed
4.4field-weighted citation impact, top 5% of its field
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Who cites it
22 citing papers in PubMed, 31 citations in OpenAlex.
- MyGeneRisk Colon: A Web-Based Tool for Personalized Colorectal Cancer Risk Prediction Based on Genetics and Lifestyle.medRxiv : the preprint server for health sciences · 2026Article
- Provider perceptions and insights on polygenic risk scores for colorectal cancer: A qualitative study.Journal of genetic counseling · 2025Article
- Patient Perspectives on Personalized Risk Communication Using Polygenic Risk Scores to Inform Colorectal Cancer Screening Decisions.AJPM focus · 2025Article
- A molecular atlas of the human postmenopausal fallopian tube and ovary from single-cell RNA and ATAC sequencing.Cell reports · 2022Article
- Identification of novel hub genes and lncRNAs related to the prognosis and progression of pancreatic cancer by microarray and integrated bioinformatics analysis.Gland surgery · 2021Article
- Association of Body Mass Index With Colorectal Cancer Risk by Genome-Wide Variants.Journal of the National Cancer Institute · 2021Article
- Epidemiology and Mechanisms of the Increasing Incidence of Colon and Rectal Cancers in Young Adults.Gastroenterology · 2020Review
- Systematic evaluation of cancer-specific genetic risk score for 11 types of cancer in The Cancer Genome Atlas and Electronic Medical Records and Genomics cohorts.Cancer medicine · 2019Article
- Novel Common Genetic Susceptibility Loci for Colorectal Cancer.Journal of the National Cancer Institute · 2019Article
- Colorectal Cancer-Associated Genes Are Associated with Tooth Agenesis and May Have a Role in Tooth Development.Scientific reports · 2018Article
- Colorectal Cancer Disparity in African Americans: Risk Factors and Carcinogenic Mechanisms.The American journal of pathology · 2018Review
- Article
- 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
- Racial Disparity in Gastrointestinal Cancer Risk.Gastroenterology · 2017Review
- Modulation of transcription factor binding and epigenetic regulation of the MLH1 CpG island and shore by polymorphism rs1800734 in colorectal cancer.Epigenetics · 2017Article
- In silico pathway analysis and tissue specific cis-eQTL for colorectal cancer GWAS risk variants.BMC genomics · 2017Article
- The dynamic DNA methylation landscape of theClinical epigenetics · 2017Article
- Functional STR withinInternational journal of clinical and experimental pathology · 2017Article
- Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer.PLoS genetics · 2016Article
Corrections and comments
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Authors and funding
43 authors at 20 institutions in 8 countries.
Mathieu Lemire *Ontario Institute for Cancer Research, Toronto, ON M5G 0A3, Canada.
Conghui Qu *Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington.
Lenora W M LooEpidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii.
Syed H E ZaidiOntario Institute for Cancer Research, Toronto, ON M5G 0A3, Canada.
Hansong WangEpidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii.
Sonja I BerndtOccupational and Environmental Epidemiology Branch, National Cancer Institute, Bethesda, MD, USA.
Stéphane BézieauService de Génétique Médicale, CHU Nantes, Nantes, France.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Peter T CampbellAmerican Cancer Society, Atlanta, GA, USA.
Andrew T ChanDivision of Gastroenterology, Massachusetts General Hospital, Boston, MA, USA.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, Unit of Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Mengmeng DuPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington.
Christopher K EdlundUSC Norris Comprehensive Cancer Center, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Steven GallingerSamuel Lunenfeld Research Institute, Toronto, ON M5S 1X5, Canada.
Robert W HaileDepartment of Medicine, Division of Oncology, Stanford University, California, USA.
Tabitha A HarrisonPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington.
Michael HoffmeisterDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
John L HopperCentre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.
Lifang HouDepartment of Preventive Medicine and the Robert H. Lurie Comprehensive Cancer Center, Feinberg School of Medicine, Northwestern University, Illinois.
Li HsuPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington.
Eric J JacobsAmerican Cancer Society, Atlanta, GA, USA.
Mark A JenkinsCentre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.
Jihyoun JeonPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington.
Sébastien KüryService de Génétique Médicale, CHU Nantes, Nantes, France.
Li LiCase Comprehensive Cancer Center and Swetland Center for Environmental Health, Case Western Reserve University, Cleveland, Ohio.
Noralane M LindorDepartment of Health Sciences Research, Mayo Clinic, Scottsdale, Arizona.
Polly A NewcombPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington.
John D PotterPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington.
Gad RennertDepartment of Community Medicine and Epidemiology, Carmel Medical Center, Haifa, Israel.
Anja RudolphDivision of Cancer Epidemiology, Unit of Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Robert E SchoenDivision of Gastroenterology, Hepatology, and Nutrition, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Fredrick R SchumacherUSC Norris Comprehensive Cancer Center, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Daniela SeminaraDivision of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, MD, USA.
Gianluca SeveriCentre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.
Martha L SlatteryDepartment of Internal Medicine, University of Utah Health Sciences Center, Salt Lake City, UT, USA.
Emily WhitePublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington.
Michael O WoodsDiscipline of Genetics, Memorial University of Newfoundland, St. John's, NF A1B 3V6, Canada.
Michelle CotterchioCancer Care Ontario, University of Toronto, Toronto, Ontario, Canada.
Loic Le MarchandEpidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii.
Graham CaseyUSC Norris Comprehensive Cancer Center, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Steven B GruberUSC Norris Comprehensive Cancer Center, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Ulrike PetersPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington.
Thomas J HudsonOntario Institute for Cancer Research, Toronto, ON M5G 0A3, Canada.
Fred Hutch Cancer Center · USUniversity of Southern California · USThe University of Melbourne · AUAmerican Cancer Society · USGerman Cancer Research Center · DEHeidelberg University · DELunenfeld-Tanenbaum Research Institute · CANational Cancer Institute · USOntario Institute for Cancer Research · CAUniversity of Hawaii System · USUniversity of Toronto · CAUniversity of Washington · USBrigham and Women's Hospital · USCancer Center of Hawaii · USCarmel Medical Center · ILGénétique Médicale & Génomique Fonctionelle · FRMayo Clinic in Arizona · USMemorial University of Newfoundland · CANantes Université · FRNorthwestern University · US
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4MTranslational Bioimaging Core Shared ResourceP30CA015704 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI Marian Esvelt · 1985 to 2026
$296.4MTumor Environment and Metastasis (TEAM) Research ProgramP30CA060553 · NCI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI Daniela E Matei · 1993 to 2026
$153.9MWomen's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI Felicity Enders · 1985 to 2026
$151.3MStatistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI TWOROGER, SHELLEY S · 2000 to 2019
$77.8MUniversity of Hawaii Cancer Center CCSGP30CA071789 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI Xin Chen · 1996 to 2026
$56.2MValidity of Diet and Activity Measures in WomenP01CA055075 · NCI · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI WILLETT, WALTER C. · 1991 to 2009
$41.8MUnderstanding Population Differences in Cancer: The MEC StudyU01CA164973 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI HAIMAN, CHRISTOPHER ALAN, LE MARCHAND, LOIC · 2015 to 2025
$37.4MTissue and Pathology ResourcesP50CA127003 · NCI · DANA-FARBER CANCER INST · PI EL-BARDEESY, NABEEL, SELLERS, WILLIAM R · 2007 to 2023
$33.2MJH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2MGENETIC SUSCEPTIBILITY TO CANCER IN MULTIETHNIC COHORTSR01CA063464 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2001 to 2005
$23.2MMultiethnic Cohort Study of Diet and CancerR37CA054281 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI KOLONEL, LAURENCE N. · 2003 to 2012
$23.2MCIHRIntramural NIH HHS Z01 CP010200NCI NIH HHS K05 CA154337NCI NIH HHS P01 CA033619NCI NIH HHS P01 CA 055075NCI NIH HHS P01 CA055075NCI NIH HHS P01 CA087969NCI NIH HHS P01 CA87969NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA015083NCI NIH HHS P30 CA015704NCI NIH HHS P30 CA060553NCI NIH HHS P30 CA071789NCI NIH HHS P50 CA127003NCI NIH HHS R01 CA042182NCI NIH HHS R01 CA048998NCI NIH HHS R01 CA059045NCI NIH HHS R01 CA060987NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA076366NCI NIH HHS R01 CA137178NCI NIH HHS R01 CA143237NCI NIH HHS R01 CA151993NCI NIH HHS R01 CA48998NCI NIH HHS R01 CA60987NCI NIH HHS R01 CA63464NCI NIH HHS R25 CA094880NCI NIH HHS R37 CA054281NCI NIH HHS R37 CA54281NCI NIH HHS U01/724 CA074799NCI NIH HHS U01 CA074778NCI 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 U01 CA137088NCI NIH HHS U01 CA164930NCI NIH HHS U01 CA164973NCI NIH HHS U01/U24 CA074783NCI NIH HHS U01/U24 CA074794NCI NIH HHS U01/U24 CA074800NCI NIH HHS U01/U24 CA097735NCI 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 CA167551NCI NIH HHS UM1 CA167552NCI NIH HHS UM1 CA186107NHGRI NIH HHS U01 HG 004438NHGRI NIH HHS U01 HG004438NHGRI NIH HHS U01 HG004446NHLBI NIH HHS HHSN268201100001INHLBI NIH HHS HHSN268201100002INHLBI NIH HHS HHSN268201100003INHLBI NIH HHS HHSN268201100004INHLBI NIH HHS HHSN268201100046CNIA NIH HHS HHSN271201100004CNIH HHS S10 OD020069WHI NIH HHS HHSN268201100001CWHI NIH HHS HHSN268201100002CWHI NIH HHS HHSN268201100003CWHI NIH HHS HHSN268201100004C
Abstract
Over 50 loci associated with colorectal cancer (CRC) have been uncovered by genome-wide association studies (GWAS). Identifying additional loci has the potential to help elucidate aspects of the underlying biological processes leading to better understanding of the pathogenesis of the disease. We re-evaluated a GWAS by excluding controls that have family history of CRC or personal history of colorectal polyps, as we hypothesized that their inclusion reduces power to detect associations. This is supported empirically and through simulations. Two-phase GWAS analysis was performed in a total of 16,517 cases and 14,487 controls. We identified rs17094983, a SNP associated with risk of CRC [p = 2.5 × 10(-10); odds ratio estimated by re-including all controls (OR) = 0.87, 95% confidence interval (CI) 0.83-0.91; minor allele frequency (MAF) = 13%]. Results were replicated in samples of African descent (1894 cases and 4703 controls; p = 0.01; OR = 0.86, 95% CI 0.77-0.97; MAF = 16 %). Gene expression data in 195 colon adenocarcinomas and 59 normal colon tissues from two different studies revealed that this locus has genotypes that are associated with RTN1 (Reticulon 1) expression (p = 0.001), a protein-coding gene involved in survival and proliferation of cancer cells which is highly expressed in normal colon tissues but has significantly reduced expression in tumor cells (p = 1.3 × 10(-8)).
Indexed as
Genetic LociGenetic Predisposition to DiseaseAdenocarcinomaAgedCase-Control StudiesChromosomes, Human, Pair 14Colorectal NeoplasmsFemaleGene FrequencyGenome-Wide Association StudyHumansMaleMiddle AgedPolymorphism, Single NucleotideRisk Factors
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