Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer.

DNA-Binding Proteins / genetics Genetic Predisposition to Disease Genome-Wide Association Study Humans Lung Neoplasms / genetics Polymorphism, Single Nucleotide / genetics Quantitative Trait Loci / genetics RNA-Binding Proteins / genetics

Journal

Nature genetics
ISSN: 1546-1718
Titre abrégé: Nat Genet
Pays: United States
ID NLM: 9216904

Informations de publication

Date de publication:
08 2022
Historique:
received: 08 10 2020
accepted: 27 05 2022
pubmed: 2 8 2022
medline: 10 8 2022
entrez: 1 8 2022
Statut: ppublish

Résumé

To identify new susceptibility loci to lung cancer among diverse populations, we performed cross-ancestry genome-wide association studies in European, East Asian and African populations and discovered five loci that have not been previously reported. We replicated 26 signals and identified 10 new lead associations from previously reported loci. Rare-variant associations tended to be specific to populations, but even common-variant associations influencing smoking behavior, such as those with CHRNA5 and CYP2A6, showed population specificity. Fine-mapping and expression quantitative trait locus colocalization nominated several candidate variants and susceptibility genes such as IRF4 and FUBP1. DNA damage assays of prioritized genes in lung fibroblasts indicated that a subset of these genes, including the pleiotropic gene IRF4, potentially exert effects by promoting endogenous DNA damage.

Identifiants

DOI: 10.1038/s41588-022-01115-x PMID: 35915169 PMC: PMC9373844
pubmed: 35915169
doi: 10.1038/s41588-022-01115-x
pii: 10.1038/s41588-022-01115-x
pmc: PMC9373844
mid: NIHMS1820659
doi:

Substances chimiques

DNA-Binding Proteins 0
FUBP1 protein, human 0
RNA-Binding Proteins 0

Types de publication

Journal Article Meta-Analysis Research Support, Non-U.S. Gov't Research Support, N.I.H., Intramural Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S.

Langues

eng

Sous-ensembles de citation

IM

Pagination

1167-1177

Subventions

Organisme : NCI NIH HHS
ID : R01 CA250905
Pays : United States
Organisme : NCI NIH HHS
ID : U19 CA203654
Pays : United States
Organisme : NCI NIH HHS
ID : R03 CA256222
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA076292
Pays : United States
Organisme : NIA NIH HHS
ID : DP1 AG072751
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA243483
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA014236
Pays : United States
Organisme : NIEHS NIH HHS
ID : T32 ES027801
Pays : United States
Organisme : NIEHS NIH HHS
ID : R00 ES033259
Pays : United States
Organisme : NIEHS NIH HHS
ID : K99 ES033259
Pays : United States
Organisme : NCI NIH HHS
ID : R35 CA197449
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA016672
Pays : United States

Informations de copyright

© 2022. The Author(s), under exclusive licence to Springer Nature America, Inc.

Références

Sampson, J. N. et al. Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types. J. Natl Cancer Inst. 107, djv279 (2015).
pubmed: 26464424 pmcid: 4806328 doi: 10.1093/jnci/djv279
Bosse, Y. & Amos, C. I. A decade of GWAS results in lung cancer. Cancer Epidemiol. Biomarkers Prev. 27, 363–379 (2018).
pubmed: 28615365 doi: 10.1158/1055-9965.EPI-16-0794
Park, S. L., Cheng, I. & Haiman, C. A. Genome-wide association studies of cancer in diverse populations. Cancer Epidemiol. Biomarkers Prev. 27, 405–417 (2018).
pubmed: 28637795 doi: 10.1158/1055-9965.EPI-17-0169
Popejoy, A. B. & Fullerton, S. M. Genomics is failing on diversity. Nature 538, 161–164 (2016).
pubmed: 27734877 pmcid: 5089703 doi: 10.1038/538161a
Rosenberg, N. A. et al. Genome-wide association studies in diverse populations. Nat. Rev. Genet. 11, 356–366 (2010).
pubmed: 20395969 pmcid: 3079573 doi: 10.1038/nrg2760
Schabath, M. B., Cress, D. & Munoz-Antonia, T. Racial and ethnic differences in the epidemiology and genomics of lung cancer. Cancer Control 23, 338–346 (2016).
pubmed: 27842323 doi: 10.1177/107327481602300405
Asimit, J. L., Hatzikotoulas, K., McCarthy, M., Morris, A. P. & Zeggini, E. Trans-ethnic study design approaches for fine-mapping. Eur. J. Hum. Genet. 24, 1330–1336 (2016).
pubmed: 26839038 pmcid: 4856879 doi: 10.1038/ejhg.2016.1
Conti, D. V. et al. Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction. Nat. Genet. 53, 65–75 (2021).
pubmed: 33398198 pmcid: 8148035 doi: 10.1038/s41588-020-00748-0
Magi, R. et al. Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution. Hum. Mol. Genet. 26, 3639–3650 (2017).
pubmed: 28911207 pmcid: 5755684 doi: 10.1093/hmg/ddx280
Li, Y. R. & Keating, B. J. Trans-ethnic genome-wide association studies: advantages and challenges of mapping in diverse populations. Genome Med. 6, 91 (2014).
pubmed: 25473427 pmcid: 4254423 doi: 10.1186/s13073-014-0091-5
Morris, A. P. Transethnic meta-analysis of genomewide association studies. Genet. Epidemiol. 35, 809–822 (2011).
pubmed: 22125221 pmcid: 3460225 doi: 10.1002/gepi.20630
Marigorta, U. M. & Navarro, A. High trans-ethnic replicability of GWAS results implies common causal variants. PLoS Genet. 9, e1003566 (2013).
pubmed: 23785302 pmcid: 3681663 doi: 10.1371/journal.pgen.1003566
Wang, J. et al. Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies. Sci. Rep. 7, 8371 (2017).
pubmed: 28827732 pmcid: 5567126 doi: 10.1038/s41598-017-07737-0
Bossé, Y. et al. Transcriptome-wide association study reveals candidate causal genes for lung cancer. Int. J. Cancer. 146, 1862–1878 (2020).
pubmed: 31696517 doi: 10.1002/ijc.32771
Kanwal, M., Ding, X. J. & Cao, Y. Familial risk for lung cancer. Oncol. Lett. 13, 535–542 (2017).
pubmed: 28356926 doi: 10.3892/ol.2016.5518
Rashkin, S. R. et al. Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts. Nat. Commun. 11, 4423 (2020).
pubmed: 32887889 pmcid: 7473862 doi: 10.1038/s41467-020-18246-6
Jiang, X. et al. Shared heritability and functional enrichment across six solid cancers. Nat. Commun. 10, 431 (2019).
pubmed: 30683880 pmcid: 6347624 doi: 10.1038/s41467-018-08054-4
McKay, J. D. et al. Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. Nat. Genet. 49, 1126–1132 (2017).
pubmed: 28604730 pmcid: 5510465 doi: 10.1038/ng.3892
Li, Y. et al. Genome-wide interaction study of smoking behavior and non-small cell lung cancer risk in Caucasian population. Carcinogenesis 39, 336–346 (2018).
pubmed: 29059373 doi: 10.1093/carcin/bgx113
Li, Y. et al. Genetic interaction analysis among oncogenesis-related genes revealed novel genes and networks in lung cancer development. Oncotarget 10, 1760–1774 (2019).
pubmed: 30956756 pmcid: 6442994 doi: 10.18632/oncotarget.26678
Ji, X. et al. Identification of susceptibility pathways for the role of chromosome 15q25.1 in modifying lung cancer risk. Nat. Commun. 9, 3221 (2018).
pubmed: 30104567 pmcid: 6089967 doi: 10.1038/s41467-018-05074-y
Ji, X. et al. Protein-altering germline mutations implicate novel genes related to lung cancer development. Nat. Commun. 11, 2220 (2020).
pubmed: 32393777 pmcid: 7214407 doi: 10.1038/s41467-020-15905-6
Amos, C. I. et al. The OncoArray Consortium: a network for understanding the genetic architecture of common cancers. Cancer Epidemiol. Biomarkers Prev. 26, 126–135 (2017).
pubmed: 27697780 doi: 10.1158/1055-9965.EPI-16-0106
Byun, J. et al. Genome-wide association study of familial lung cancer. Carcinogenesis 39, 1135–1140 (2018).
pubmed: 29924316 pmcid: 6148967 doi: 10.1093/carcin/bgy080
Lan, Q. et al. Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia. Nat. Genet. 44, 1330–1335 (2012).
pubmed: 23143601 pmcid: 4169232 doi: 10.1038/ng.2456
Kachuri, L. et al. Fine mapping of chromosome 5p15.33 based on a targeted deep sequencing and high density genotyping identifies novel lung cancer susceptibility loci. Carcinogenesis 37, 96–105 (2016).
pubmed: 26590902 doi: 10.1093/carcin/bgv165
Zanetti, K. A. et al. Genome-wide association study confirms lung cancer susceptibility loci on chromosomes 5p15 and 15q25 in an African-American population. Lung Cancer 98, 33–42 (2016).
pubmed: 27393504 doi: 10.1016/j.lungcan.2016.05.008
Wang, Y. et al. Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. Nat. Genet. 46, 736–741 (2014).
pubmed: 24880342 pmcid: 4074058 doi: 10.1038/ng.3002
Bycroft, C. et al. The UK Biobank resource with deep phenotyping and genomic data. Nature 562, 203–209 (2018).
pubmed: 30305743 pmcid: 6786975 doi: 10.1038/s41586-018-0579-z
Truong, T. et al. Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium. J. Natl Cancer Inst. 102, 959–971 (2010).
pubmed: 20548021 pmcid: 2897877 doi: 10.1093/jnci/djq178
Zuber, V. et al. Pleiotropic analysis of lung cancer and blood triglycerides. J. Natl Cancer. Inst. 108, djw167 (2016).
pubmed: 27565901 pmcid: 5241892 doi: 10.1093/jnci/djw167
Watza, D. et al. COPD-dependent effects of genetic variation in key inflammation pathway genes on lung cancer risk. Int. J. Cancer 147, 747–756 (2020).
pubmed: 31709530 doi: 10.1002/ijc.32780
Dai, J. et al. Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations. Lancet Respir. Med. 7, 881–891 (2019).
pubmed: 31326317 pmcid: 7015703 doi: 10.1016/S2213-2600(19)30144-4
van Rooij, F. J. A. et al. Genome-wide trans-ethnic meta-analysis identifies seven genetic loci influencing erythrocyte traits and a role for RBPMS in erythropoiesis. Am. J. Hum. Genet. 100, 51–63 (2017).
pubmed: 28017375 doi: 10.1016/j.ajhg.2016.11.016
Li, Y. et al. FastPop: a rapid principal component derived method to infer intercontinental ancestry using genetic data. BMC Bioinformatics 17, 122 (2016).
pubmed: 26961892 pmcid: 4784403 doi: 10.1186/s12859-016-0965-1
McCarthy, S. et al. A reference panel of 64,976 haplotypes for genotype imputation. Nat. Genet. 48, 1279–1283 (2016).
pubmed: 27548312 pmcid: 5388176 doi: 10.1038/ng.3643
Wang, X. Firth logistic regression for rare variant association tests. Front. Genet. 5, 187 (2014).
pubmed: 24995013 pmcid: 4063169
Ma, C., Blackwell, T., Boehnke, M., Scott, L. J. & Go, T. D. I. Recommended joint and meta-analysis strategies for case-control association testing of single low-count variants. Genet. Epidemiol. 37, 539–550 (2013).
pubmed: 23788246 pmcid: 4049324 doi: 10.1002/gepi.21742
Dey, R. et al. Robust meta-analysis of biobank-based genome-wide association studies with unbalanced binary phenotypes. Genet. Epidemiol. 43, 462–476 (2019).
pubmed: 30793809 pmcid: 6559837 doi: 10.1002/gepi.22197
Han, B. & Eskin, E. Random-effects model aimed at discovering associations in meta-analysis of genome-wide association studies. Am. J. Hum. Genet. 88, 586–598 (2011).
pubmed: 21565292 pmcid: 3146723 doi: 10.1016/j.ajhg.2011.04.014
Han, B. & Eskin, E. Interpreting meta-analyses of genome-wide association studies. PLoS Genet. 8, e1002555 (2012).
pubmed: 22396665 pmcid: 3291559 doi: 10.1371/journal.pgen.1002555
Bhattacharjee, S. et al. A subset-based approach improves power and interpretation for the combined analysis of genetic association studies of heterogeneous traits. Am. J. Hum. Genet. 90, 821–835 (2012).
pubmed: 22560090 pmcid: 3376551 doi: 10.1016/j.ajhg.2012.03.015
Igl, B. W., Konig, I. R. & Ziegler, A. What do we mean by ‘replication’ and ‘validation’ in genome-wide association studies? Hum. Hered. 67, 66–68 (2009).
pubmed: 18931511 doi: 10.1159/000164400
Spitz, M. R. et al. Role of selected genetic variants in lung cancer risk in African Americans. J. Thorac. Oncol. 8, 391–397 (2013).
pubmed: 23454887 pmcid: 3623962 doi: 10.1097/JTO.0b013e318283da29
Machiela, M. J. & Chanock, S. J. LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants. Bioinformatics 31, 3555–3557 (2015).
pubmed: 26139635 pmcid: 4626747 doi: 10.1093/bioinformatics/btv402
Buniello, A. et al. The NHGRI-EBI GWAS catalog of published genome-wide association studies, targeted arrays and summary statistics 2019. Nucleic Acids Res. 47, D1005–d1012 (2019).
pubmed: 30445434 doi: 10.1093/nar/gky1120
Schumacher, F. R. et al. Genome-wide association study of colorectal cancer identifies six new susceptibility loci. Nat. Commun. 6, 7138 (2015).
pubmed: 26151821 doi: 10.1038/ncomms8138
Doyle, G. A. et al. In vitro and ex vivo analysis of CHRNA3 and CHRNA5 haplotype expression. PLoS ONE 6, e23373 (2011).
pubmed: 21858091 pmcid: 3155531 doi: 10.1371/journal.pone.0023373
Tanner, J. A. et al. Novel CYP2A6 diplotypes identified through next-generation sequencing are associated with in-vitro and in-vivo nicotine metabolism. Pharmacogenet. Genomics 28, 7–16 (2018).
pubmed: 29232328 pmcid: 5729933 doi: 10.1097/FPC.0000000000000317
Kang, E. Y. et al. Meta-analysis identifies gene-by-environment interactions as demonstrated in a study of 4,965 mice. PLoS Genet. 10, e1004022 (2014).
pubmed: 24415945 pmcid: 3886926 doi: 10.1371/journal.pgen.1004022
Pena-Chilet, M. et al. Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population. BMC Cancer 13, 160 (2013).
pubmed: 23537197 pmcid: 3704782 doi: 10.1186/1471-2407-13-160
Chen, M. H. et al. Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations. Cell 182, 1198–1213 (2020).
pubmed: 32888493 pmcid: 7480402 doi: 10.1016/j.cell.2020.06.045
Vuckovic, D. et al. The polygenic and monogenic basis of blood traits and diseases. Cell 182, 1214–1231 (2020).
pubmed: 32888494 pmcid: 7482360 doi: 10.1016/j.cell.2020.08.008
Astle, W. J. et al. The allelic landscape of human blood cell trait variation and links to common complex disease. Cell 167, 1415–1429 (2016).
pubmed: 27863252 pmcid: 5300907 doi: 10.1016/j.cell.2016.10.042
Liyanage, U. E. et al. Combined analysis of keratinocyte cancers identifies novel genome-wide loci. Hum. Mol. Genet. 28, 3148–3160 (2019).
pubmed: 31174203 pmcid: 6737293 doi: 10.1093/hmg/ddz121
Asgari, M. M. et al. Identification of susceptibility loci for cutaneous squamous cell carcinoma. J. Invest. Dermatol. 136, 930–937 (2016).
pubmed: 26829030 pmcid: 4842155 doi: 10.1016/j.jid.2016.01.013
Chahal, H. S. et al. Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma. Nat. Commun. 7, 12048 (2016).
pubmed: 27424798 pmcid: 4960294 doi: 10.1038/ncomms12048
Liu, M. et al. Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use. Nat. Genet. 51, 237–244 (2019).
pubmed: 30643251 pmcid: 6358542 doi: 10.1038/s41588-018-0307-5
Kichaev, G. et al. Leveraging polygenic functional enrichment to improve GWAS power. Am. J. Hum. Genet. 104, 65–75 (2019).
pubmed: 30595370 doi: 10.1016/j.ajhg.2018.11.008
Yang, J., Lee, S. H., Goddard, M. E. & Visscher, P. M. GCTA: a tool for genome-wide complex trait analysis. Am. J. Hum. Genet. 88, 76–82 (2011).
pubmed: 21167468 pmcid: 3014363 doi: 10.1016/j.ajhg.2010.11.011
Yang, J. et al. Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat. Genet. 44, 369–375 (2012).
pubmed: 22426310 pmcid: 3593158 doi: 10.1038/ng.2213
Landi, M. T. et al. A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. Am. J. Hum. Genet. 85, 679–691 (2009).
pubmed: 19836008 pmcid: 2775843 doi: 10.1016/j.ajhg.2009.09.012
McKay, J. D. et al. Lung cancer susceptibility locus at 5p15.33. Nat. Genet. 40, 1404–1406 (2008).
pubmed: 18978790 pmcid: 2748187 doi: 10.1038/ng.254
Hung, R. J. et al. Lung cancer risk in never-smokers of European descent is associated with genetic variation in the 5p15.33 TERT-CLPTM1Ll region. J. Thorac. Oncol. 14, 1360–1369 (2019).
pubmed: 31009812 pmcid: 6833942 doi: 10.1016/j.jtho.2019.04.008
Shiraishi, K. et al. A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population. Nat. Genet. 44, 900–903 (2012).
pubmed: 22797724 doi: 10.1038/ng.2353
Hu, Z. et al. A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese. Nat. Genet. 43, 792–796 (2011).
pubmed: 21725308 doi: 10.1038/ng.875
Hsiung, C. A. et al. The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia. PLoS Genet. 6, e1001051 (2010).
pubmed: 20700438 pmcid: 2916850 doi: 10.1371/journal.pgen.1001051
Schaid, D. J., Chen, W. & Larson, N. B. From genome-wide associations to candidate causal variants by statistical fine-mapping. Nat. Rev. Genet. 19, 491–504 (2018).
pubmed: 29844615 pmcid: 6050137 doi: 10.1038/s41576-018-0016-z
Cannon, M. E. et al. Trans-ancestry Fine mapping and molecular assays identify regulatory variants at the ANGPTL8 HDL-C GWAS. Locus. G3 7, 3217–3227 (2017).
pubmed: 28754724
Li, X. et al. Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale. Nat. Genet. 52, 969–983 (2020).
pubmed: 32839606 pmcid: 7483769 doi: 10.1038/s41588-020-0676-4
Sun, R. et al. Integration of multiomic annotation data to prioritize and characterize inflammation and immune-related risk variants in squamous cell lung cancer. Genet. Epidemiol. 45, 99–114 (2021).
pubmed: 32924180 doi: 10.1002/gepi.22358
Li, X. et al. A multi-dimensional integrative scoring framework for predicting functional variants in the human genome. Am. J. Hum. Genet. 109, 446–456 (2022).
pubmed: 35216679 doi: 10.1016/j.ajhg.2022.01.017
Watanabe, K., Taskesen, E., van Bochoven, A. & Posthuma, D. Functional mapping and annotation of genetic associations with FUMA. Nat. Commun. 8, 1826 (2017).
pubmed: 29184056 pmcid: 5705698 doi: 10.1038/s41467-017-01261-5
Elman, J. S. et al. Identification of FUBP1 as a long tail cancer driver and widespread regulator of tumor suppressor and oncogene alternative splicing. Cell Rep. 28, 3435–3449 (2019).
pubmed: 31553912 pmcid: 7297508 doi: 10.1016/j.celrep.2019.08.060
Singer, S. et al. Coordinated expression of stathmin family members by far upstream sequence element-binding protein-1 increases motility in non-small cell lung cancer. Cancer Res. 69, 2234–2243 (2009).
pubmed: 19258502 doi: 10.1158/0008-5472.CAN-08-3338
Man, K. et al. The transcription factor IRF4 is essential for TCR affinity-mediated metabolic programming and clonal expansion of T cells. Nat. Immunol. 14, 1155–1165 (2013).
pubmed: 24056747 doi: 10.1038/ni.2710
Praetorius, C. et al. A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway. Cell 155, 1022–1033 (2013).
pubmed: 24267888 doi: 10.1016/j.cell.2013.10.022
Shaffer, A. L. et al. IRF4 addiction in multiple myeloma. Nature 454, 226–231 (2008).
pubmed: 18568025 pmcid: 2542904 doi: 10.1038/nature07064
Do, T. N., Ucisik-Akkaya, E., Davis, C. F., Morrison, B. A. & Dorak, M. T. An intronic polymorphism of IRF4 gene influences gene transcription in vitro and shows a risk association with childhood acute lymphoblastic leukemia in males. Biochim. Biophys. Acta 1802, 292–300 (2010).
pubmed: 19897031 doi: 10.1016/j.bbadis.2009.10.015
Zhang, T. et al. Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes. Genome Res. 28, 1621–1635 (2018).
pubmed: 30333196 pmcid: 6211648 doi: 10.1101/gr.233304.117
Visser, M., Palstra, R. J. & Kayser, M. Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping of the intronic rs12203592 enhancer to the IRF4 promoter. Hum. Mol. Genet. 24, 2649–2661 (2015).
pubmed: 25631878 doi: 10.1093/hmg/ddv029
Tubbs, A. & Nussenzweig, A. Endogenous DNA damage as a source of genomic instability in cancer. Cell 168, 644–656 (2017).
pubmed: 28187286 pmcid: 6591730 doi: 10.1016/j.cell.2017.01.002
Xia, J. et al. Bacteria-to-Human protein networks reveal origins of endogenous DNA damage. Cell 176, 127–143 (2019).
pubmed: 30633903 pmcid: 6344048 doi: 10.1016/j.cell.2018.12.008
Liu, Y. et al. Rare deleterious germline variants and risk of lung cancer. NPJ Precis. Oncol. 5, 12 (2021).
pubmed: 33594163 pmcid: 7887261 doi: 10.1038/s41698-021-00146-7
Gomperts, B. N. et al. Evolving concepts in lung carcinogenesis. Semin. Respir. Crit. Care Med. 32, 32–43 (2011).
pubmed: 21500122 pmcid: 3423907 doi: 10.1055/s-0031-1272867
Miller, Y. E. Pathogenesis of lung cancer: 100 year report. Am. J. Respir. Cell Mol. Biol. 33, 216–223 (2005).
pubmed: 16107574 pmcid: 2715312 doi: 10.1165/rcmb.2005-0158OE
Landi, M. T. et al. Environment And Genetics in Lung cancer Etiology (EAGLE) study: an integrative population-based case-control study of lung cancer. BMC Public Health 8, 203 (2008).
pubmed: 18538025 pmcid: 2464602 doi: 10.1186/1471-2458-8-203
Mitchell, K. A. et al. Relationship between West African ancestry with lung cancer risk and survival in African Americans. Cancer Causes Control 30, 1259–1268 (2019).
pubmed: 31468279 pmcid: 8274945 doi: 10.1007/s10552-019-01212-z
Wigginton, J. E., Cutler, D. J. & Abecasis, G. R. A note on exact tests of Hardy–Weinberg equilibrium. Am. J. Hum. Genet. 76, 887–893 (2005).
pubmed: 15789306 pmcid: 1199378 doi: 10.1086/429864
Graffelman, J. & Moreno, V. The mid p-value in exact tests for Hardy–Weinberg equilibrium. Stat. Appl. Genet. Mol. Biol. 12, 433–448 (2013).
pubmed: 23934608 doi: 10.1515/sagmb-2012-0039
Rafnar, T. et al. Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits. Nat. Commun. 9, 3636 (2018).
pubmed: 30194396 pmcid: 6128903 doi: 10.1038/s41467-018-05428-6
Genomes Project, C. et al. A global reference for human genetic variation. Nature 526, 68–74 (2015).
doi: 10.1038/nature15393
Hormozdiari, F. et al. Colocalization of GWAS and eQTL signals detects target genes. Am. J. Hum. Genet. 99, 1245–1260 (2016).
pubmed: 27866706 pmcid: 5142122 doi: 10.1016/j.ajhg.2016.10.003
Wallace, C. Eliciting priors and relaxing the single causal variant assumption in colocalisation analyses. PLoS Genet. 16, e1008720 (2020).
pubmed: 32310995 pmcid: 7192519 doi: 10.1371/journal.pgen.1008720
Livak, K. J. & Schmittgen, T. D. Analysis of relative gene expression data using real-time quantitative PCR and the 2
pubmed: 11846609 doi: 10.1006/meth.2001.1262

Auteurs

Jinyoung Byun (J)

Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.
Section of Epidemiology and Population Sciences, Department of Medicine, Baylor College of Medicine, Houston, TX, USA.
ORCID: 0000-0001-8579-1435

Younghun Han (Y)

Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.
Section of Epidemiology and Population Sciences, Department of Medicine, Baylor College of Medicine, Houston, TX, USA.
ORCID: 0000-0001-5048-8479

Yafang Li (Y)

Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.
Section of Epidemiology and Population Sciences, Department of Medicine, Baylor College of Medicine, Houston, TX, USA.
Dan L Duncan Comprehensive Cancer Center, Baylor College of Medicine, Houston, TX, USA.

Jun Xia (J)

Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
ORCID: 0000-0001-7331-0673

Erping Long (E)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

Jiyeon Choi (J)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
ORCID: 0000-0002-0955-2384

Xiangjun Xiao (X)

Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.

Meng Zhu (M)

Department of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, P. R. China.

Wen Zhou (W)

Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.
ORCID: 0000-0001-6872-2761

Ryan Sun (R)

Department of Biostatistics, University of Texas, M.D. Anderson Cancer Center, Houston, TX, USA.

Yohan Bossé (Y)

Institut universitaire de cardiologie et de pneumologie de Québec - Université Laval, Department of Molecular Medicine, Laval University, Quebec City, Quebec, Canada.

Zhuoyi Song (Z)

Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Ann Schwartz (A)

Department of Oncology, Wayne State University School of Medicine, Detroit, MI, USA.
Karmanos Cancer Institute, Detroit, MI, USA.

Christine Lusk (C)

Department of Oncology, Wayne State University School of Medicine, Detroit, MI, USA.
Karmanos Cancer Institute, Detroit, MI, USA.

Thorunn Rafnar (T)

deCODE genetics/Amgen Sturlugata 8, Reykjavik, Iceland.
ORCID: 0000-0003-0491-7046

Kari Stefansson (K)

deCODE genetics/Amgen Sturlugata 8, Reykjavik, Iceland.

Tongwu Zhang (T)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
ORCID: 0000-0003-2124-2706

Wei Zhao (W)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
ORCID: 0000-0001-5103-3871

Rowland W Pettit (RW)

Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.

Yanhong Liu (Y)

Section of Epidemiology and Population Sciences, Department of Medicine, Baylor College of Medicine, Houston, TX, USA.
Dan L Duncan Comprehensive Cancer Center, Baylor College of Medicine, Houston, TX, USA.

Xihao Li (X)

Department of Biostatistics, Harvard TH Chan School of Public Health, Boston, MA, USA.
ORCID: 0000-0001-8151-0106

Hufeng Zhou (H)

Department of Biostatistics, Harvard TH Chan School of Public Health, Boston, MA, USA.

Kyle M Walsh (KM)

Duke Cancer Institute, Duke University Medical Center, Durham, NC, USA.
ORCID: 0000-0002-5879-9981

Ivan Gorlov (I)

Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.
Section of Epidemiology and Population Sciences, Department of Medicine, Baylor College of Medicine, Houston, TX, USA.
Dan L Duncan Comprehensive Cancer Center, Baylor College of Medicine, Houston, TX, USA.

Olga Gorlova (O)

Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.
Section of Epidemiology and Population Sciences, Department of Medicine, Baylor College of Medicine, Houston, TX, USA.
Dan L Duncan Comprehensive Cancer Center, Baylor College of Medicine, Houston, TX, USA.

Dakai Zhu (D)

Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.
Section of Epidemiology and Population Sciences, Department of Medicine, Baylor College of Medicine, Houston, TX, USA.

Susan M Rosenberg (SM)

Dan L Duncan Comprehensive Cancer Center, Baylor College of Medicine, Houston, TX, USA.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
ORCID: 0000-0003-1444-473X

Susan Pinney (S)

University of Cincinnati College of Medicine, Cincinnati, OH, USA.
ORCID: 0000-0003-3491-1980

Joan E Bailey-Wilson (JE)

National Human Genome Research Institute, NIH, Baltimore, MD, USA.
ORCID: 0000-0002-9153-2920

Diptasri Mandal (D)

Louisiana State University Health Sciences Center, New Orleans, LA, USA.

Mariza de Andrade (M)

Mayo Clinic, College of Medicine, Rochester, MN, USA.

Colette Gaba (C)

The University of Toledo College of Medicine and Life Sciences, University of Toledo, Toledo, OH, USA.

James C Willey (JC)

The University of Toledo College of Medicine and Life Sciences, University of Toledo, Toledo, OH, USA.

Ming You (M)

Center for Cancer Prevention, Houston Methodist Research Institute, Houston, TX, USA.

Marshall Anderson (M)

University of Cincinnati College of Medicine, Cincinnati, OH, USA.

John K Wiencke (JK)

Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA, USA.

Demetrius Albanes (D)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

Stephan Lam (S)

Department of Integrative Oncology, BC Cancer, Vancouver, British Columbia, Canada.

Adonina Tardon (A)

Public Health Department, University of Oviedo, ISPA and CIBERESP, Asturias, Spain.
ORCID: 0000-0001-5150-1209

Chu Chen (C)

Program in Epidemiology, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.

Gary Goodman (G)

Swedish Cancer Institute, Seattle, WA, USA.

Stig Bojeson (S)

Department of Clinical Biochemistry, Herlev Gentofte Hospital, Copenhagen University Hospital, Copenhagen, Denmark.
Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
ORCID: 0000-0002-4061-4133

Hermann Brenner (H)

Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany.
German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
ORCID: 0000-0002-6129-1572

Maria Teresa Landi (MT)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
ORCID: 0000-0003-4507-329X

Stephen J Chanock (SJ)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
ORCID: 0000-0002-2324-3393

Mattias Johansson (M)

Section of Genetics, International Agency for Research on Cancer, World Health Organization, Lyon, France.
ORCID: 0000-0002-3116-5081

Thomas Muley (T)

Division of Cancer Epigenomics, DKFZ - German Cancer Research Center, Heidelberg, Germany.
Translational Lung Research Center Heidelberg (TLRC-H), German Center for Lung Research (DZL), Heidelberg, Germany.
ORCID: 0000-0002-8141-0604

Angela Risch (A)

Division of Cancer Epigenomics, DKFZ - German Cancer Research Center, Heidelberg, Germany.
Translational Lung Research Center Heidelberg (TLRC-H), German Center for Lung Research (DZL), Heidelberg, Germany.
Department of Biosciences and Medical Biology, Allergy-Cancer-BioNano Research Centre, University of Salzburg, Salzburg, Austria.
Cancer Cluster Salzburg, Salzburg, Austria.

H-Erich Wichmann (HE)

Institute of Epidemiology, Helmholtz Center, Munich, Germany.

Heike Bickeböller (H)

Department of Genetic Epidemiology, University Medical Center, Georg-August-University Göttingen, Göttingen, Germany.
ORCID: 0000-0002-3361-5488

David C Christiani (DC)

Department of Epidemiology, Harvard T.H.Chan School of Public Health, Boston, MA, USA.
ORCID: 0000-0002-0301-0242

Gad Rennert (G)

Clalit National Cancer Control Center at Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel.
ORCID: 0000-0002-8512-068X

Susanne Arnold (S)

University of Kentucky, Markey Cancer Center, Lexington, KY, USA.
ORCID: 0000-0001-6542-9551

John K Field (JK)

Roy Castle Lung Cancer Research Programme, Department of Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, UK.

Sanjay Shete (S)

Department of Biostatistics, University of Texas, M.D. Anderson Cancer Center, Houston, TX, USA.
Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
ORCID: 0000-0001-7622-376X

Loic Le Marchand (L)

Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI, USA.

Olle Melander (O)

Faculty of Medicine, Lund University, Lund, Sweden.

Hans Brunnstrom (H)

Faculty of Medicine, Lund University, Lund, Sweden.
ORCID: 0000-0001-7402-138X

Geoffrey Liu (G)

University Health Network- The Princess Margaret Cancer Centre, Toronto, Ontario, Canada.

Angeline S Andrew (AS)

Departments of Epidemiology and Community and Family Medicine, Dartmouth College, Hanover, NH, USA.

Lambertus A Kiemeney (LA)

Radboud University Medical Center, Nijmegen, The Netherlands.
ORCID: 0000-0002-2368-1326

Hongbing Shen (H)

Department of Epidemiology and Biostatistics, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, School of Public Health, Nanjing Medical University, Nanjing, P. R. China.
ORCID: 0000-0002-2581-5906

Shanbeh Zienolddiny (S)

National Institute of Occupational Health, Oslo, Norway.

Kjell Grankvist (K)

Department of Medical Biosciences, Umeå University, Umeå, Sweden.
ORCID: 0000-0003-4289-2097

Mikael Johansson (M)

Department of Radiation Sciences, Oncology, Umeå University, Umeå, Sweden.
ORCID: 0000-0003-4182-8923

Neil Caporaso (N)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

Angela Cox (A)

Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
ORCID: 0000-0002-5138-1099

Yun-Chul Hong (YC)

Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.

Jian-Min Yuan (JM)

UPMC Hillman Cancer Center and Department of Epidemiology, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
ORCID: 0000-0002-4620-3108

Philip Lazarus (P)

Department of Pharmaceutical Sciences, College of Pharmacy, Washington State University, Spokane, WA, USA.

Matthew B Schabath (MB)

Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.
ORCID: 0000-0003-3241-3216

Melinda C Aldrich (MC)

Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
ORCID: 0000-0003-3833-8448

Alpa Patel (A)

American Cancer Society, Atlanta, GA, USA.

Qing Lan (Q)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

Nathaniel Rothman (N)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

Fiona Taylor (F)

Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.

Linda Kachuri (L)

Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA, USA.

John S Witte (JS)

Department of Epidemiology and Population Health, Stanford University, Stanford, CA, USA.

Lori C Sakoda (LC)

Division of Research, Kaiser Permanente Northern California, Oakland, CA, USA.
ORCID: 0000-0002-0900-5735

Margaret Spitz (M)

Section of Epidemiology and Population Sciences, Department of Medicine, Baylor College of Medicine, Houston, TX, USA.

Paul Brennan (P)

Section of Genetics, International Agency for Research on Cancer, World Health Organization, Lyon, France.
ORCID: 0000-0002-0518-8714

Xihong Lin (X)

Department of Biostatistics, Harvard TH Chan School of Public Health, Boston, MA, USA.
ORCID: 0000-0001-7067-7752

James McKay (J)

Section of Genetics, International Agency for Research on Cancer, World Health Organization, Lyon, France.
ORCID: 0000-0002-1787-3874

Rayjean J Hung (RJ)

Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, Ontario, Canada.
Division of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.

Christopher I Amos (CI)

Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA. Chris.Amos@bcm.edu.
Section of Epidemiology and Population Sciences, Department of Medicine, Baylor College of Medicine, Houston, TX, USA. Chris.Amos@bcm.edu.
Dan L Duncan Comprehensive Cancer Center, Baylor College of Medicine, Houston, TX, USA. Chris.Amos@bcm.edu.
ORCID: 0000-0002-8540-7023

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de liaison à l'ADN › Cross-ancestry genome-wide meta-analysis of...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Cross-ancestry genome-wide meta-analysis of...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Cross-ancestry genome-wide meta-analysis of...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Cross-ancestry genome-wide meta-analysis of...
questionsmedicales.fr › Maladies de l'appareil respiratoire › Tumeurs de l'appareil respiratoire › Tumeurs du poumon › Cross-ancestry genome-wide meta-analysis of...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Cross-ancestry genome-wide meta-analysis of...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Locus génétiques › Locus de caractère quantitatif › Cross-ancestry genome-wide meta-analysis of...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Cross-ancestry genome-wide meta-analysis of...