{"id":"https://openalex.org/W2136285728","doi":"https://doi.org/10.1093/carcin/bgr087","title":"Genome-wide association studies may be misinterpreted: genes versus heritability","display_name":"Genome-wide association studies may be misinterpreted: genes versus heritability","publication_year":2011,"publication_date":"2011-05-11","ids":{"openalex":"https://openalex.org/W2136285728","doi":"https://doi.org/10.1093/carcin/bgr087","mag":"2136285728","pmid":"https://pubmed.ncbi.nlm.nih.gov/21565827"},"language":"en","primary_location":{"id":"doi:10.1093/carcin/bgr087","doi":"https://doi.org/10.1093/carcin/bgr087","is_oa":false,"landing_page_url":"https://doi.org/10.1093/carcin/bgr087","pdf_url":null,"source":{"id":"https://openalex.org/S184620562","display_name":"Carcinogenesis","issn_l":"0143-3334","issn":["0143-3334","1460-2180"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Carcinogenesis","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"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/A5085715708","display_name":"Paolo Vineis","orcid":"https://orcid.org/0000-0001-8935-4566","observed_orcids":["https://orcid.org/0000-0001-8935-4566"]},"institutions":[{"id":"https://openalex.org/I4210123319","display_name":"Italian institute for Genomic Medicine","ror":"https://ror.org/036054d36","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I4210123319"]},{"id":"https://openalex.org/I4392738229","display_name":"MRC Centre for Environment and Health","ror":"https://ror.org/01vw4c203","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210087105","https://openalex.org/I4392738229","https://openalex.org/I47508984","https://openalex.org/I90344618"]},{"id":"https://openalex.org/I47508984","display_name":"Imperial College London","ror":"https://ror.org/041kmwe10","country_code":"GB","type":"education","lineage":["https://openalex.org/I47508984"]}],"countries":["GB","IT"],"is_corresponding":true,"raw_author_name":"P. Vineis","raw_affiliation_strings":["Molecular and Genetic Epidemiology Unit-HuGeF, MRC/HPA Centre for Environment and Health, School of Public Health, Imperial College, Norfolk Place, W2 1PG London, UK. p.vineis@imperial.ac.uk","Molecular and Genetic Epidemiology Unit, HuGeF Foundation, Via Nizza 52,\u201410126 Torino, Italy","Molecular and Genetic Epidemiology Unit-HuGeF, MRC/HPA Centre for Environment and Health, School of Public Health, Imperial College, Norfolk Place, W2 1PG London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular and Genetic Epidemiology Unit-HuGeF, MRC/HPA Centre for Environment and Health, School of Public Health, Imperial College, Norfolk Place, W2 1PG London, UK. p.vineis@imperial.ac.uk","institution_ids":["https://openalex.org/I4392738229","https://openalex.org/I47508984"]},{"raw_affiliation_string":"Molecular and Genetic Epidemiology Unit, HuGeF Foundation, Via Nizza 52,\u201410126 Torino, Italy","institution_ids":["https://openalex.org/I4210123319"]},{"raw_affiliation_string":"Molecular and Genetic Epidemiology Unit-HuGeF, MRC/HPA Centre for Environment and Health, School of Public Health, Imperial College, Norfolk Place, W2 1PG London, UK","institution_ids":["https://openalex.org/I4392738229","https://openalex.org/I47508984"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5061652194","display_name":"Neil E. Pearce","orcid":"https://orcid.org/0000-0002-9938-7852","observed_orcids":["https://orcid.org/0000-0002-9938-7852"]},"institutions":[{"id":"https://openalex.org/I4210089966","display_name":"London School of Hygiene & Tropical Medicine","ror":"https://ror.org/00a0jsq62","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4210089966"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"N. E.Pearce","raw_affiliation_strings":["Department of Medical Statistics, Faculty of Epidemiology and Public Health, London School of Hygiene and Tropical Medicine, WC1E 7HT London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Statistics, Faculty of Epidemiology and Public Health, London School of Hygiene and Tropical Medicine, WC1E 7HT London, UK","institution_ids":["https://openalex.org/I4210089966"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5085715708"],"corresponding_institution_ids":["https://openalex.org/I4210123319","https://openalex.org/I4392738229","https://openalex.org/I47508984"],"apc_list":{"value":4835,"currency":"USD","value_usd":4835},"apc_paid":null,"fwci":2.3556,"has_fulltext":false,"cited_by_count":30,"citation_normalized_percentile":{"value":0.88768441,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"32","issue":"9","first_page":"1295","last_page":"1298"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9980000257492065,"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":0.9980000257492065,"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/T11468","display_name":"Genetic Mapping and Diversity in Plants and Animals","score":0.0003000000142492354,"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/T10594","display_name":"Genetic and phenotypic traits in livestock","score":0.0003000000142492354,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"genome-wide association study","score":0.9580000042915344},{"id":"https://openalex.org/keywords/heritability","display_name":"heritability","score":0.972000002861023},{"id":"https://openalex.org/keywords/genetic-determination","display_name":"genetic determination","score":0.7509999871253967},{"id":"https://openalex.org/keywords/common-diseases","display_name":"common diseases","score":0.7009999752044678},{"id":"https://openalex.org/keywords/genetic-variants","display_name":"genetic variants","score":0.5889999866485596},{"id":"https://openalex.org/keywords/twin-studies","display_name":"twin studies","score":0.7310000061988831},{"id":"https://openalex.org/keywords/family-studies","display_name":"family studies","score":0.597000002861023},{"id":"https://openalex.org/keywords/environmental-factors","display_name":"environmental factors","score":0.6480000019073486}],"concepts":[{"id":"https://openalex.org/C161890455","wikidata":"https://www.wikidata.org/wiki/Q1503548","display_name":"Heritability","level":2,"score":0.9600846767425537},{"id":"https://openalex.org/C144621757","wikidata":"https://www.wikidata.org/wiki/Q3083720","display_name":"Missing heritability problem","level":5,"score":0.8409963250160217},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.7698752880096436},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.6768792271614075},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6147938370704651},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5987938642501831},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5007455348968506},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.49565351009368896},{"id":"https://openalex.org/C166151441","wikidata":"https://www.wikidata.org/wiki/Q4923601","display_name":"Causation","level":2,"score":0.45228147506713867},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.45209038257598877},{"id":"https://openalex.org/C2781140086","wikidata":"https://www.wikidata.org/wiki/Q557945","display_name":"Confusion","level":2,"score":0.44271039962768555},{"id":"https://openalex.org/C169594400","wikidata":"https://www.wikidata.org/wiki/Q244775","display_name":"Twin study","level":3,"score":0.4195912778377533},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.37895455956459045},{"id":"https://openalex.org/C149923435","wikidata":"https://www.wikidata.org/wiki/Q37732","display_name":"Demography","level":1,"score":0.30375802516937256},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2006320059299469},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.19835442304611206},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17214056849479675},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.1538527011871338},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.1442624032497406},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.08928772807121277},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0},{"id":"https://openalex.org/C11171543","wikidata":"https://www.wikidata.org/wiki/Q41630","display_name":"Psychoanalysis","level":1,"score":0.0},{"id":"https://openalex.org/C17744445","wikidata":"https://www.wikidata.org/wiki/Q36442","display_name":"Political science","level":0,"score":0.0},{"id":"https://openalex.org/C199539241","wikidata":"https://www.wikidata.org/wiki/Q7748","display_name":"Law","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013167","descriptor_name":"Spondylitis, Ankylosing","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1093/carcin/bgr087","doi":"https://doi.org/10.1093/carcin/bgr087","is_oa":false,"landing_page_url":"https://doi.org/10.1093/carcin/bgr087","pdf_url":null,"source":{"id":"https://openalex.org/S184620562","display_name":"Carcinogenesis","issn_l":"0143-3334","issn":["0143-3334","1460-2180"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Carcinogenesis","raw_type":"journal-article"},{"id":"pmid:21565827","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21565827","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Carcinogenesis","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.890.648","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.890.648","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://carcin.oxfordjournals.org/content/32/9/1295.full.pdf","raw_type":"text"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.892.7800","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.892.7800","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://carcin.oxfordjournals.org/content/early/2011/06/30/carcin.bgr087.full.pdf","raw_type":"text"},{"id":"pmh:oai:researchonline.lshtm.ac.uk:105","doi":null,"is_oa":false,"landing_page_url":"https://researchonline.lshtm.ac.uk/id/eprint/105/","pdf_url":null,"source":{"id":"https://openalex.org/S4306402527","display_name":"LSHTM Research Online (London School of Hygiene and Tropical Medicine)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210089966","host_organization_name":"London School of Hygiene & Tropical Medicine","host_organization_lineage":["https://openalex.org/I4210089966"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8048999905586243,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":14,"referenced_works":["https://openalex.org/W1681932403","https://openalex.org/W1907953089","https://openalex.org/W1969503742","https://openalex.org/W1973606790","https://openalex.org/W1980991473","https://openalex.org/W2043352692","https://openalex.org/W2095692548","https://openalex.org/W2098200673","https://openalex.org/W2141173590","https://openalex.org/W2156368482","https://openalex.org/W2160574390","https://openalex.org/W2302182528","https://openalex.org/W2497010589","https://openalex.org/W4298290178"],"related_works":["https://openalex.org/W7100546107","https://openalex.org/W2924960962","https://openalex.org/W1012984144","https://openalex.org/W2319973112","https://openalex.org/W2146415150","https://openalex.org/W2068950975","https://openalex.org/W2115509954","https://openalex.org/W159064268","https://openalex.org/W2945388751","https://openalex.org/W1963911076"],"abstract_inverted_index":{"Much":[0],"of":[1,18,39,57,65,84,93,118,140,160,163,183],"the":[2,12,40,55,58,75,82,97,108,161,181],"literature":[3],"on":[4,11,54,115],"genome-wide":[5],"association":[6],"studies":[7,50,154],"(GWAS)":[8],"is":[9,21,27,43,52,70,113,143,148],"based":[10,53,114],"premise":[13,109],"that":[14,24,166,185],"an":[15],"important":[16],"proportion":[17,26,162,182],"common":[19,89],"diseases":[20],"heritable":[22],"and":[23,51,91,124,126,131,146],"this":[25,111],"likely":[28],"to":[29,32,101,103,169,179,188],"be":[30,177],"due":[31,187],"genetic":[33,132,150,170],"variants":[34],"detectable":[35],"with":[36,137],"extensive":[37],"scans":[38],"DNA.":[41],"Heritability":[42],"estimated":[44],"from":[45],"family":[46],"studies,":[47],"including":[48],"twin":[49],"comparison":[56],"variation":[59,77,123,142],"in":[60,78,174],"disease":[61,79,164],"among":[62],"different":[63],"members":[64],"particular":[66],"families.":[67],"Since":[68],"there":[69],"a":[71,138],"wide":[72],"gap":[73],"between":[74,122,129],"population":[76],"explained":[80],"by":[81],"results":[83],"GWAS":[85],"(usually":[86],"<10%":[87],"for":[88,110],"diseases)":[90],"estimates":[92,159,173],"heritability":[94,130,147,153],"(often":[95],">50%),":[96],"question":[98,112],"arises":[99],"as":[100],"how":[102],"explain":[104],"these":[105],"differences.":[106],"However,":[107],"two":[116],"sources":[117],"misunderstanding:":[119],"(i)":[120],"confusion":[121,128],"causation":[125,145],"(ii)":[127],"determination.":[133,151],"As":[134],"we":[135],"show":[136],"number":[139],"examples,":[141],"not":[144,149,156],"Therefore,":[152],"do":[155],"provide":[157],"valid":[158],"cases":[165,184],"are":[167,186],"attributable":[168],"factors.":[171,190],"Such":[172],"turn":[175],"cannot":[176],"used":[178],"estimate":[180],"environmental":[189]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":5},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":8}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
