{"id":"https://openalex.org/W1494863303","doi":"https://doi.org/10.1158/1538-7445.am2014-4251","title":"Abstract 4251: Identification of expression quantitative trait loci at lung cancer and COPD risk genes in normal bronchial epithelial cells","display_name":"Abstract 4251: Identification of expression quantitative trait loci at lung cancer and COPD risk genes in normal bronchial epithelial cells","publication_year":2014,"publication_date":"2014-10-01","ids":{"openalex":"https://openalex.org/W1494863303","doi":"https://doi.org/10.1158/1538-7445.am2014-4251","mag":"1494863303"},"language":"en","primary_location":{"id":"doi:10.1158/1538-7445.am2014-4251","doi":"https://doi.org/10.1158/1538-7445.am2014-4251","is_oa":false,"landing_page_url":"https://doi.org/10.1158/1538-7445.am2014-4251","pdf_url":null,"source":{"id":"https://openalex.org/S168522863","display_name":"Cancer Research","issn_l":"0008-5472","issn":["0008-5472","1538-7445"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320273","host_organization_name":"American Association for Cancer Research","host_organization_lineage":["https://openalex.org/P4310320273"],"host_organization_lineage_names":["American Association for Cancer Research"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancer Research","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5013002142","display_name":"Erin L. Crawford","orcid":"https://orcid.org/0000-0002-4447-5863","observed_orcids":["https://orcid.org/0000-0002-4447-5863"]},"institutions":[{"id":"https://openalex.org/I90871651","display_name":"University of Toledo","ror":"https://ror.org/01pbdzh19","country_code":"US","type":"education","lineage":["https://openalex.org/I90871651"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Erin L. Crawford","raw_affiliation_strings":["1University of Toledo, Toledo, OH;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1University of Toledo, Toledo, OH;","institution_ids":["https://openalex.org/I90871651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110850649","display_name":"Ji\u2010Youn Yeo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I90871651","display_name":"University of Toledo","ror":"https://ror.org/01pbdzh19","country_code":"US","type":"education","lineage":["https://openalex.org/I90871651"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jiyoun Yeo","raw_affiliation_strings":["1University of Toledo, Toledo, OH;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1University of Toledo, Toledo, OH;","institution_ids":["https://openalex.org/I90871651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100746444","display_name":"Xiaolu Zhang","orcid":"https://orcid.org/0009-0005-8724-8133","observed_orcids":["https://orcid.org/0009-0005-8724-8133"]},"institutions":[{"id":"https://openalex.org/I90871651","display_name":"University of Toledo","ror":"https://ror.org/01pbdzh19","country_code":"US","type":"education","lineage":["https://openalex.org/I90871651"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Xiaolu Zhang","raw_affiliation_strings":["1University of Toledo, Toledo, OH;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1University of Toledo, Toledo, OH;","institution_ids":["https://openalex.org/I90871651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014881226","display_name":"Karanbir S. Padda","orcid":"https://orcid.org/0009-0008-7881-4182","observed_orcids":["https://orcid.org/0009-0008-7881-4182"]},"institutions":[{"id":"https://openalex.org/I118020396","display_name":"Swarthmore College","ror":"https://ror.org/012dg8a96","country_code":"US","type":"education","lineage":["https://openalex.org/I118020396"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Karan Padda","raw_affiliation_strings":["2Swarthmore College, Swarthmore, PA;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"2Swarthmore College, Swarthmore, PA;","institution_ids":["https://openalex.org/I118020396"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086053353","display_name":"Taylor Arend","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I20577493","display_name":"Denison University","ror":"https://ror.org/05pqx1c24","country_code":"US","type":"education","lineage":["https://openalex.org/I20577493"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Taylor Arend","raw_affiliation_strings":["3Denison University, Granville, OH;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"3Denison University, Granville, OH;","institution_ids":["https://openalex.org/I20577493"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014689360","display_name":"Thomas M. Blomquist","orcid":"https://orcid.org/0009-0003-4253-0691","observed_orcids":["https://orcid.org/0009-0003-4253-0691"]},"institutions":[{"id":"https://openalex.org/I90871651","display_name":"University of Toledo","ror":"https://ror.org/01pbdzh19","country_code":"US","type":"education","lineage":["https://openalex.org/I90871651"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Thomas M. Blomquist","raw_affiliation_strings":["1University of Toledo, Toledo, OH;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1University of Toledo, Toledo, OH;","institution_ids":["https://openalex.org/I90871651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087470378","display_name":"Albert M. Levin","orcid":"https://orcid.org/0000-0002-6993-1669","observed_orcids":["https://orcid.org/0000-0002-6993-1669"]},"institutions":[{"id":"https://openalex.org/I154057602","display_name":"Henry Ford Health","ror":"https://ror.org/02kwnkm68","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I154057602"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Albert M. Levin","raw_affiliation_strings":["4Henry Ford Health Systems, Detroit, MI"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"4Henry Ford Health Systems, Detroit, MI","institution_ids":["https://openalex.org/I154057602"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091841617","display_name":"Mei L\u00fc","orcid":"https://orcid.org/0000-0002-3313-6428","observed_orcids":["https://orcid.org/0000-0002-3313-6428"]},"institutions":[{"id":"https://openalex.org/I154057602","display_name":"Henry Ford Health","ror":"https://ror.org/02kwnkm68","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I154057602"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mei Lu","raw_affiliation_strings":["4Henry Ford Health Systems, Detroit, MI"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"4Henry Ford Health Systems, Detroit, MI","institution_ids":["https://openalex.org/I154057602"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5103524503","display_name":"James C. Willey","orcid":"https://orcid.org/0000-0002-1192-6824","observed_orcids":["https://orcid.org/0000-0002-1192-6824"]},"institutions":[{"id":"https://openalex.org/I90871651","display_name":"University of Toledo","ror":"https://ror.org/01pbdzh19","country_code":"US","type":"education","lineage":["https://openalex.org/I90871651"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"James C. Willey","raw_affiliation_strings":["1University of Toledo, Toledo, OH;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1University of Toledo, Toledo, OH;","institution_ids":["https://openalex.org/I90871651"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"74","issue":"19_Supplement","first_page":"4251","last_page":"4251"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9258000254631042,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9258000254631042,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10143","display_name":"Chronic Obstructive Pulmonary Disease (COPD) Research","score":0.043800000101327896,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12334","display_name":"Lung Cancer Research Studies","score":0.00570000009611249,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/expression-quantitative-trait-loci","display_name":"expression quantitative trait loci","score":0.8970000147819519},{"id":"https://openalex.org/keywords/cis-regulatory-variation","display_name":"cis-regulatory variation","score":0.7360000014305115},{"id":"https://openalex.org/keywords/lung-cancer-susceptibility","display_name":"lung cancer susceptibility","score":0.8019999861717224},{"id":"https://openalex.org/keywords/chronic-obstructive-pulmonary-disease","display_name":"chronic obstructive pulmonary disease","score":0.968999981880188},{"id":"https://openalex.org/keywords/allele-specific-expression","display_name":"allele-specific expression","score":0.9900000095367432},{"id":"https://openalex.org/keywords/gene-expression-regulation","display_name":"gene expression regulation","score":0.4749999940395355},{"id":"https://openalex.org/keywords/cigarette-smoking","display_name":"cigarette smoking","score":0.4390000104904175},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.753000020980835},{"id":"https://openalex.org/keywords/muc5b","display_name":"MUC5B","score":0.6129999756813049},{"id":"https://openalex.org/keywords/keap1","display_name":"Keap1","score":0.7730000019073486},{"id":"https://openalex.org/keywords/p73","display_name":"p73","score":0.9200000166893005},{"id":"https://openalex.org/keywords/cyclin-d2","display_name":"cyclin D2","score":0.7720000147819519},{"id":"https://openalex.org/keywords/ercc4","display_name":"ERCC4","score":0.8730000257492065},{"id":"https://openalex.org/keywords/ercc5","display_name":"ERCC5","score":0.9660000205039978},{"id":"https://openalex.org/keywords/cats","display_name":"cats","score":0.671999990940094},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.4429999887943268}],"concepts":[{"id":"https://openalex.org/C2776780178","wikidata":"https://www.wikidata.org/wiki/Q199804","display_name":"COPD","level":2,"score":0.7999917268753052},{"id":"https://openalex.org/C2776256026","wikidata":"https://www.wikidata.org/wiki/Q47912","display_name":"Lung cancer","level":2,"score":0.7841274738311768},{"id":"https://openalex.org/C168393362","wikidata":"https://www.wikidata.org/wiki/Q5421706","display_name":"Expression quantitative trait loci","level":5,"score":0.6761171817779541},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.6656243205070496},{"id":"https://openalex.org/C2779372377","wikidata":"https://www.wikidata.org/wiki/Q17147792","display_name":"Lung cancer susceptibility","level":5,"score":0.5728030204772949},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.538321316242218},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.5075865983963013},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.46817511320114136},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4599960744380951},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4520553946495056},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.4215148687362671},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.40651243925094604},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.36306294798851013},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.339314341545105},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.33857011795043945},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.1756960153579712}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1158/1538-7445.am2014-4251","doi":"https://doi.org/10.1158/1538-7445.am2014-4251","is_oa":false,"landing_page_url":"https://doi.org/10.1158/1538-7445.am2014-4251","pdf_url":null,"source":{"id":"https://openalex.org/S168522863","display_name":"Cancer Research","issn_l":"0008-5472","issn":["0008-5472","1538-7445"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320273","host_organization_name":"American Association for Cancer Research","host_organization_lineage":["https://openalex.org/P4310320273"],"host_organization_lineage_names":["American Association for Cancer Research"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancer Research","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2564030503","https://openalex.org/W2913016487","https://openalex.org/W2104704131","https://openalex.org/W2586801969","https://openalex.org/W1504583995","https://openalex.org/W4410271350","https://openalex.org/W4294940921","https://openalex.org/W7141078119","https://openalex.org/W2055564105","https://openalex.org/W2780068223"],"abstract_inverted_index":{"Abstract":[0],"Background:":[1],"Lung":[2],"cancer":[3,91,132,158,167,247,264,396,429,471],"and":[4,10,16,23,33,92,142,179,222,266,270,274,322,353,397,430,433,472],"chronic":[5],"obstructive":[6],"pulmonary":[7],"disease":[8],"(COPD)":[9],"are":[11,63],"leading":[12],"causes":[13],"of":[14,26,39,71,89,102,116,182,238,377,437,464,484,489],"morbidity":[15],"mortality":[17],"both":[18],"in":[19,113,128,137,187,256,281,303,385,411,414,476],"the":[20,30,87,114,243,289,329,340,356,485,490],"United":[21],"States":[22],"worldwide.":[24],"Inhalation":[25],"cigarette":[27,48],"smoke":[28,49],"is":[29,77],"primary":[31],"known":[32],"preventable":[34],"cause":[35],"but":[36],"only":[37],"10-15%":[38],"heavy":[40],"smokers":[41],"develop":[42],"these":[43,325],"diseases.":[44],"This":[45,374],"suggests":[46,347,366],"that":[47,85,118],"exposure":[50],"interacts":[51],"with":[52,130,156,388,402],"inherited":[53],"susceptibility":[54,61,83],"factors":[55,84],"to":[56,80,124,215,310,394,422],"determine":[57],"risk.":[58,94,399,438],"While":[59],"some":[60,328],"genes":[62,117,186,235,240,387,401,475],"known,":[64],"they":[65],"account":[66],"for":[67,73,110,165,327,354,382,392,427,493],"less":[68],"than":[69],"5%":[70],"risk":[72,164,185,248,432,474],"either":[74],"disease.":[75],"There":[76],"urgent":[78],"need":[79],"identify":[81],"heritable":[82],"explain":[86],"majority":[88],"lung":[90,131,157,166,246,395,428,470],"COPD":[93,160,398,431,473],"In":[95,170],"this":[96,171],"study":[97,376],"we":[98,119,144,174],"focused":[99],"on":[100],"discovery":[101],"cis-regulatory":[103,276,351,383],"expression":[104,115,177,181,220,224,465],"quantitative":[105,466],"trait":[106,467],"loci":[107,468],"(eQTL)":[108],"responsible":[109],"inter-individual":[111,301],"variation":[112,302],"and/or":[120],"others":[121,355],"have":[122],"reported":[123,245,404],"display":[125],"altered":[126],"regulation":[127],"subjects":[129,155,262,341,379,420],"or":[133,159,161,168],"COPD.":[134,169],"Through":[135],"funding":[136],"part":[138],"from":[139,152,190,260,288,418],"RC2":[140],"CA148572":[141],"HL108016":[143],"collected":[145],"normal":[146,477],"bronchial":[147,478],"epithelial":[148,479],"cell":[149],"(NBEC)":[150],"samples":[151,189,417],"over":[153,357],"500":[154,419],"demographically":[162],"at":[163,225,335,469],"pilot":[172],"study,":[173],"assessed":[175],"allele-specific":[176],"(ASE)":[178,221],"total":[180,223,258],"multiple":[183],"putative":[184,275],"NBEC":[188,257,416],"85":[191,261,378],"subjects.":[192,291],"Methods:":[193],"A":[194],"targeted":[195],"competitive":[196],"multiplex":[197],"next":[198],"generation":[199],"sequencing":[200],"(NGS)":[201],"method":[202],"(STAndardized":[203],"RNA":[204,259],"SEQuencing":[205],"[STARSEQ];":[206],"Blomquist":[207],"et":[208,251],"al,":[209,252],"PLOS":[210],"one":[211],"2013)":[212],"was":[213,293,313,332,360],"used":[214],"quantify":[216],"a)":[217],"allele":[218,331,359],"specific":[219],"140":[226],"single":[227,277],"nucleotide":[228,278],"polymorphism":[229],"(SNP)":[230],"sites":[231],"among":[232,339,408],"41":[233],"target":[234],"(including":[236],"eleven":[237],"14":[239],"comprised":[241],"by":[242,295],"previously":[244],"test":[249],"(Blomquist":[250],"Can.":[253],"Res.":[254],"2009)":[255],"(26":[263],"cases":[265],"59":[267],"non-cancer":[268],"controls),":[269],"b)":[271],"allelic":[272,307],"representation":[273],"polymorphisms":[279],"(rSNPs)":[280],"matched":[282,311],"peripheral":[283],"blood":[284],"leukocyte":[285],"genomic":[286],"(g)DNA":[287],"same":[290,330],"Heterozygosity":[292],"determined":[294],"gDNA":[296,312],"analysis.":[297],"Results:":[298],"Significant":[299],"(p<0.05)":[300],"ASE":[304,403],"measured":[305],"as":[306],"imbalance":[308],"relative":[309],"observed":[314],"for:":[315],"CAT,":[316],"CCND2,":[317],"ERCC4,":[318],"ERCC5,":[319],"KEAP1,":[320],"MUC5B":[321],"TP73.":[323],"Among":[324],"genes,":[326],"typically":[333],"expressed":[334,358],"a":[336,348,367],"higher":[337],"level":[338],"studied":[342],"(e.g.":[343,362],"ERCC5":[344],"rs17655)":[345],"which":[346,365],"closely":[349],"proximal":[350],"SNP":[352],"random":[361],"CAT":[363],"rs1049982)":[364],"more":[368],"distal":[369],"cis":[370],"regulatory":[371],"SNP.":[372],"Conclusions:":[373],"small":[375],"provides":[380],"evidence":[381],"eQTL":[384],"selected":[386],"high":[389],"prior":[390],"likelihood":[391],"contributing":[393],"The":[400],"here":[405],"will":[406],"be":[407],"those":[409],"included":[410],"additional":[412],"studies":[413],"archived":[415],"aiming":[421],"further":[423],"optimize":[424],"current":[425],"tests":[426],"better":[434],"understand":[435],"mechanisms":[436],"Citation":[439],"Format:":[440],"Erin":[441],"L.":[442],"Crawford,":[443],"Jiyoun":[444],"Yeo,":[445],"Xiaolu":[446],"Zhang,":[447],"Karan":[448],"Padda,":[449],"Taylor":[450],"Arend,":[451],"Thomas":[452],"M.":[453,456],"Blomquist,":[454],"Albert":[455],"Levin,":[457],"Mei":[458],"Lu,":[459],"James":[460],"C.":[461],"Willey.":[462],"Identification":[463],"cells.":[480],"[abstract].":[481],"In:":[482],"Proceedings":[483],"105th":[486],"Annual":[487],"Meeting":[488],"American":[491],"Association":[492],"Cancer":[494,505],"Research;":[495],"2014":[496],"Apr":[497],"5-9;":[498],"San":[499],"Diego,":[500],"CA.":[501],"Philadelphia":[502],"(PA):":[503],"AACR;":[504],"Res":[506],"2014;74(19":[507],"Suppl):Abstract":[508],"nr":[509],"4251.":[510],"doi:10.1158/1538-7445.AM2014-4251":[511]},"counts_by_year":[],"updated_date":"2026-09-29T14:09:16.559479","created_date":"2016-06-24T00:00:00"}
