ArticleLung cancer (Amsterdam, Netherlands)2016
Genome-wide association study confirms lung cancer susceptibility loci on chromosomes 5p15 and 15q25 in an African-American population.
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Article in Lung cancer (Amsterdam, Netherlands), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 8 of them syntheses that pooled it.
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45citing papers in PubMed, 8 pooled it
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Who cites it
45 citing papers in PubMed, 8 syntheses or guidelines pooled it, 71 citations in OpenAlex.
- Development and validation of a multiancestry and multitrait polygenic risk score for lung cancer.Nature communications · 2026Pooled it
- The current state of polygenic scores for the development of lung cancer: a systematic review and validation in UK Biobank.British journal of cancer · 2026Pooled it
- Multi-ancestry GWAS meta-analyses of lung cancer reveal susceptibility loci and elucidate smoking-independent genetic risk.Nature communications · 2024Pooled it
- Correlation between rs1800871, rs1800872 and rs1800896 Polymorphisms at IL-10 Gene and Lung Cancer Risk.Asian Pacific journal of cancer prevention : APJCP · 2024Pooled it
- Ethnicity-specific association between TERT rs2736100 (A > C) polymorphism and lung cancer risk: a comprehensive meta-analysis.Scientific reports · 2023Pooled it
- A systematic review of genetic ancestry as a risk factor for incidence of non-small cell lung cancer in the US.Frontiers in genetics · 2023Pooled it
- Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer.Nature genetics · 2022Pooled it
- Pharmacotherapy for smoking cessation: effects by subgroup defined by genetically informed biomarkers.The Cochrane database of systematic reviews · 2017Pooled it
- A Genome-Wide Association Study of Colorectal Cancer Mortality Outcomes Among Individuals of African and Admixture Ancestry.Molecular carcinogenesis · 2026Article
- Article
- Formal Statistical Replication Analysis in Lung Cancer Genome-Wide Association Studies.medRxiv : the preprint server for health sciences · 2025Article
- Genetic analysis in African ancestry populations reveals genetic contributors to lung cancer susceptibility.American journal of human genetics · 2025Article
- Genome-wide association study for lung cancer in 6531 African Americans reveals new susceptibility loci.Human molecular genetics · 2025Article
- Attitudes regarding polygenic risk testing for lung cancer: a mixed-methods study.Annals of behavioral medicine : a publication of the Society of Behavioral Medicine · 2025Article
- Identification of ncRNA Biomarkers in Non-Small Cell Lung Cancer to Address Racial Disparities.Cancer research communications · 2024Article
- Iroquois homeobox 4 (IRX4) derived micropeptide promotes prostate cancer progression and chemoresistance through Wnt signalling dysregulation.Communications medicine · 2024Article
- Amplification ofJCO precision oncology · 2024Article
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- Cytokine Signatures for Lung Cancer Diagnosis in African American Populations.Journal of personalized medicine · 2024Article
- Genomic medicine to reduce tobacco and related disorders: Translation to precision prevention and treatment.Addiction neuroscience · 2023Article
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Authors and funding
42 authors at 17 institutions in 1 country.
Krista A ZanettiDivision of Cancer Control and Population Sciences, National Cancer Institute, 9609 Medical Center Drive, Rockville, MD 20892, USA. Electronic address: zanettik@mail.nih.gov.
Zhaoming WangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, Rockville, MD 20892, USA. Electronic address: wangzha@mail.nih.gov.
Melinda AldrichDivision of Epidemiology, Vanderbilt University Medical Center, 1161 21st Avenue South, D-3100 Medical Center North, Nashville, TN 37232, USA; Department of Thoracic Surgery, Vanderbilt University Medical Center, 609 Oxford House, 1313 21st Ave South, Nashville, TN 37232-4682, USA. Electronic address: melinda.aldrich@Vanderbilt.Edu.
Christopher I AmosDepartment of Biomedical Data Science, Geisel School of Medicine, 1 Rope Ferry Road, Dartmouth, Lebanon, NH 03755-1404, USA. Electronic address: Christopher.I.Amos@Dartmouth.edu.
William J BlotDivision of Epidemiology, Vanderbilt University Medical Center, 1161 21st Avenue South, D-3100 Medical Center North, Nashville, TN 37232, USA. Electronic address: blotw@iei.us.
Elise D BowmanLaboratory of Human Carcinogenesis, Center for Cancer Research, National Cancer Institute, Building 37, Room 3068A, Bethesda, MD 20892, USA. Electronic address: bowmane@intra.nci.nih.gov.
Laurie BurdetteDivision of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, Rockville, MD 20892, USA. Electronic address: burdettl@mail.nih.gov.
Qiuyin CaiDivision of Epidemiology, Vanderbilt University Medical Center, 1161 21st Avenue South, D-3100 Medical Center North, Nashville, TN 37232, USA. Electronic address: qiuyin.cai@Vanderbilt.Edu.
Neil CaporasoDivision of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, Rockville, MD 20892, USA. Electronic address: caporasn@mail.nih.gov.
Charles C ChungDivision of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, Rockville, MD 20892, USA. Electronic address: chungcc@mail.nih.gov.
Elizabeth M GillandersDivision of Cancer Control and Population Sciences, National Cancer Institute, 9609 Medical Center Drive, Rockville, MD 20892, USA. Electronic address: lgilland@mail.nih.gov.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California and Norris Comprehensive Cancer Center, 1975 Zonal Avenue, Los Angeles, CA 90033, USA. Electronic address: haiman@usc.edu.
Helen M HansenDepartment of Neurological Surgery, University of California, 505 Parnassus Ave., Room 779 M, San Francisco, San Francisco, CA 94143-00112, USA. Electronic address: helen.hansen@ucsf.edu.
Brian E HendersonDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California and Norris Comprehensive Cancer Center, 1975 Zonal Avenue, Los Angeles, CA 90033, USA.
Laurence N KolonelEpidemiology Program, Cancer Research Center, University of Hawaii, 701 Ilalo Street, Honolulu, HI 96813, USA. Electronic address: lkolonel@cc.hawaii.edu.
Loic Le MarchandEpidemiology Program, Cancer Research Center, University of Hawaii, 701 Ilalo Street, Honolulu, HI 96813, USA. Electronic address: Loic@cc.hawaii.edu.
Shengchao LiDivision of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, Rockville, MD 20892, USA. Electronic address: shengchao.li@nih.gov.
Lorna Haughton McNeillDepartment of Health Disparities Research, Division of OVP, Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, Unit 91, Houston, TX 77030, USA. Electronic address: lmcneill@mdanderson.org.
Bríd M RyanLaboratory of Human Carcinogenesis, Center for Cancer Research, National Cancer Institute, Building 37, Room 3068A, Bethesda, MD 20892, USA. Electronic address: ryanb@mail.nih.gov.
Ann G SchwartzDepartment of Oncology, Karmanos Cancer Institute, Wayne State University School of Medicine, 4100 John R, Detroit, MI 48201, USA. Electronic address: schwarta@karmanos.org.
Jennette D SisonDepartment of Neurological Surgery, University of California, 505 Parnassus Ave., Room 779 M, San Francisco, San Francisco, CA 94143-00112, USA. Electronic address: jennette.sison@ucsf.edu.
Margaret R SpitzDepartment of Molecular and Cellular Biology, Baylor College of Medicine, One Baylor Plaza, Mail Stop BCM225, Houston, TX 77030, USA. Electronic address: spitz@bcm.edu.
Margaret TuckerDivision of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, Rockville, MD 20892, USA. Electronic address: tuckerp@mail.nih.gov.
Angela S WenzlaffDepartment of Oncology, Karmanos Cancer Institute, Wayne State University School of Medicine, 4100 John R, Detroit, MI 48201, USA. Electronic address: wenzlaff@karmanos.org.
John K WienckeDepartment of Neurological Surgery, University of California, 505 Parnassus Ave., Room 779 M, San Francisco, San Francisco, CA 94143-00112, USA. Electronic address: john.wiencke@ucsf.edu.
Lynne WilkensEpidemiology Program, Cancer Research Center, University of Hawaii, 701 Ilalo Street, Honolulu, HI 96813, USA. Electronic address: lynne@cc.hawaii.edu.
Margaret R WrenschDepartment of Neurological Surgery, University of California, 505 Parnassus Ave., Room 779 M, San Francisco, San Francisco, CA 94143-00112, USA. Electronic address: Margaret.Wrensch@ucsf.edu.
Xifeng WuDepartment of Epidemiology, Division of OVP, Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Unit 1340, PO Box 301439, Houston, TX 77230-1439, USA. Electronic address: xwu@mdanderson.org.
Wei ZhengDivision of Epidemiology, Vanderbilt University Medical Center, 1161 21st Avenue South, D-3100 Medical Center North, Nashville, TN 37232, USA. Electronic address: wei.zheng@vanderbilt.edu.
Weiyin ZhouDivision of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, Rockville, MD 20892, USA. Electronic address: zhouw@mail.nih.gov.
David ChristianiHarvard School of Public Health, Massachusetts General Hospital/Harvard Medical School, 25 Shattuck Street, Boston, MA 02115, USA. Electronic address: dchris@hsph.harvard.edu.
Julie R PalmerSlone Epidemiology Cancer Center at Boston University, 1010 Commonwealth Avenue, 4th Floor, Boston, MA 02215, USA. Electronic address: jpalmer@bu.edu.
Trevor M PenningCenter of Excellence in Environmental Toxicology, Perelman School of Medicine, University of Pennsylvania, 3535 Market Street, Mezzanine, Philadelphia PA 19104, USA; Department of Pharmacology, Perelman School of Medicine, University of Pennsylvania, 3535 Market Street, Mezzanine, Philadelphia PA 19104, USA. Electronic address: PENNING@UPENN.EDU.
Alyssa G RieberDepartment of General Oncology, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030, USA. Electronic address: arieber@mdanderson.org.
Lynn RosenbergSlone Epidemiology Cancer Center at Boston University, 1010 Commonwealth Avenue, 4th Floor, Boston, MA 02215, USA. Electronic address: lrosenbe@bu.edu.
Edward A Ruiz-NarvaezSlone Epidemiology Cancer Center at Boston University, 1010 Commonwealth Avenue, 4th Floor, Boston, MA 02215, USA. Electronic address: eruiznar@bu.edu.
Li SuHarvard School of Public Health, Massachusetts General Hospital/Harvard Medical School, 25 Shattuck Street, Boston, MA 02115, USA. Electronic address: lisu@hsph.harvard.edu.
Anil VachaniCenter of Excellence in Environmental Toxicology, Perelman School of Medicine, University of Pennsylvania, 3535 Market Street, Mezzanine, Philadelphia PA 19104, USA; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, 3535 Market Street, Mezzanine, Philadelphia, PA 19104, USA. Electronic address: avachani@mail.med.upenn.edu.
Yongyue WeiHarvard School of Public Health, Massachusetts General Hospital/Harvard Medical School, 25 Shattuck Street, Boston, MA 02115, USA. Electronic address: ywei@hsph.harvard.edu.
Alexander S WhiteheadCenter of Excellence in Environmental Toxicology, Perelman School of Medicine, University of Pennsylvania, 3535 Market Street, Mezzanine, Philadelphia PA 19104, USA; Department of Pharmacology, Perelman School of Medicine, University of Pennsylvania, 3535 Market Street, Mezzanine, Philadelphia PA 19104, USA. Electronic address: aswhiteh@mail.med.upenn.edu.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, Rockville, MD 20892, USA. Electronic address: chanocks@mail.nih.gov.
Curtis C HarrisLaboratory of Human Carcinogenesis, Center for Cancer Research, National Cancer Institute, Building 37, Room 3068A, Bethesda, MD 20892, USA. Electronic address: Curtis_Harris@nih.gov.
National Cancer Institute · USNeurological Surgery · USVanderbilt University Medical Center · USBoston University · USDivision of Cancer Epidemiology and GeneticsThe University of Texas MD Anderson Cancer Center · USUniversity of Pennsylvania · USHarvard University · USUniversity of Hawaii System · USUniversity of Southern California · USBaylor College of Medicine · USCancer Research Center · USCenter for Cancer Research · USDartmouth College · USMassachusetts General Hospital · USThe Barbara Ann Karmanos Cancer Institute · USWayne State University · US
Funding
Tumor Evolution and Metastasis ProgramP30CA016672 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI Scott Kopetz · 1985 to 2026
$290.8MTumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI MATTHEW J TYSKA · 1995 to 2026
$172.8MTranslational Engineering in Cancer (TEC)P30CA023108 · NCI · DARTMOUTH COLLEGE · PI Steven D Leach · 1985 to 2026
$91.3MSouthern Community Cohort StudyR01CA092447 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BLOT, WILLIAM J., ZHENG, WEI · 2001 to 2015
$74.0MTumor Biology and Microenvironment (Program 1)P30CA022453 · NCI · WAYNE STATE UNIVERSITY · PI PAUL M STEMMER · 1985 to 2026
$68.4MUNIVERSITY OF TEXAS--SPORE IN LUNG CANCERP50CA070907 · NCI · UT SOUTHWESTERN MEDICAL CENTER · PI GIBBONS, DON LYNN · 1996 to 2024
$57.4MUnderstanding Population Differences in Cancer: The MEC StudyU01CA164973 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI HAIMAN, CHRISTOPHER ALAN, LE MARCHAND, LOIC · 2015 to 2025
$37.4MTranslational Research Support CoreP30ES013508 · NIEHS · UNIVERSITY OF PENNSYLVANIA · PI Rebecca A Simmons · 2006 to 2026
$35.3MUntargeted Adductomics to Characterize Ethnic Differences in the Exposome of SmokersP01CA138338 · NCI · UNIVERSITY OF MINNESOTA · PI SHARON E MURPHY · 2010 to 2026
$33.4MGENETIC 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
$23.2MGENETIC EPIDEMIOLOGY OF MALIGNANT GLIOMAR01CA052689 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI WIENCKE, JOHN K., WRENSCH, MARGARET R. · 1991 to 2015
$20.5MIntramural NIH HHS Z01 CP010169Intramural NIH HHS Z01 CP010178NCI NIH HHS HHSN261201000028CNCI NIH HHS K07 CA172294NCI NIH HHS N01 PC035145NCI NIH HHS P01 CA138338NCI NIH HHS P20 CA090578NCI NIH HHS P30 CA016672NCI NIH HHS P30 CA022453NCI NIH HHS P30 CA023108NCI NIH HHS P30 CA068485NCI NIH HHS P50 CA070907NCI NIH HHS R01 CA052689NCI NIH HHS R01 CA054281NCI NIH HHS R01 CA055769NCI NIH HHS R01 CA060691NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA074386NCI NIH HHS R01 CA087895NCI NIH HHS R01 CA092447NCI NIH HHS R01 CA092824NCI NIH HHS R01 CA098663NCI NIH HHS R01 CA111646NCI NIH HHS R01 CA121197NCI NIH HHS R21 CA156087NCI NIH HHS R35 CA197449NCI NIH HHS R37 CA054281NCI NIH HHS RC2 CA148085NCI NIH HHS U01 CA063464NCI NIH HHS U01 CA164973NCI NIH HHS U19 CA148127NCI NIH HHS UM1 CA164973NCI NIH HHS UM1 CA164974NHGRI NIH HHS U01 HG004726NIEHS NIH HHS P30 ES013508NIEHS NIH HHS R01 ES006717
Abstract
objectivesGenome-wide association studies (GWAS) of lung cancer have identified regions of common genetic variation with lung cancer risk in Europeans who smoke and never-smoking Asian women. This study aimed to conduct a GWAS in African Americans, who have higher rates of lung cancer despite smoking fewer cigarettes per day when compared with Caucasians. This population provides a different genetic architecture based on underlying African ancestry allowing the identification of new regions and exploration of known regions for finer mapping. MATERIALS AND
methodsWe genotyped 1,024,001 SNPs in 1737 cases and 3602 controls in stage 1, followed by a replication phase of 20 SNPs (p<1.51×10(-5)) in an independent set of 866 cases and 796 controls in stage 2. RESULTS AND
conclusionIn the combined analysis, we confirmed two loci to be associated with lung cancer that achieved the threshold of genome-wide significance: 15q25.1 marked by rs2036527 (p=1.3×10(-9); OR=1.32; 95% CI=1.20-1.44) near CHRNA5, and 5p15.33 marked by rs2853677 (p=2.8×10(-9); OR=1.28; 95% CI=1.18-1.39) near TERT. The association with rs2853677 is driven by the adenocarcinoma subtype of lung cancer (p=1.3×10(-8); OR=1.37; 95% CI=1.23-1.54). No SNPs reached genome-wide significance for either of the main effect models examining smoking - cigarettes per day and current or former smoker. Our study was powered to identify strong risk loci for lung cancer in African Americans; we confirmed results previously reported in African Americans and other populations for two loci near plausible candidate genes, CHRNA5 and TERT, on 15q25.1 and 5p15.33 respectively, are associated with lung cancer. Additional work is required to map and understand the biological underpinnings of the strong association of these loci with lung cancer risk in African Americans.
Indexed as
Chromosomes, Human, Pair 15Chromosomes, Human, Pair 5Genetic Predisposition to DiseaseGenome-Wide Association StudyQuantitative Trait LociBlack or African AmericanCase-Control StudiesHumansLung NeoplasmsPolymorphism, Single NucleotidePopulation SurveillanceAfrican AmericansGenome-wide association studyLung neoplasmsReceptors, CholinergicSmokingTelomerase
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