Phuwanat SakornsakolpatDmitry ProkopenkoMaxime LamontagneNicola F. ReeveAnna L. GuyattVictoria E. JacksonNick ShrineDandi QiaoTraci M. BartzDeog Kyeom KimMi Kyeong LeeJeanne C. LatourelleXingnan LiJarrett D. MorrowMa’en ObeidatAnnah B. WyssPer BakkeR. Graham BarrTerri H. BeatySteven A. BelinskyGuy G. BrusselleJames D. CrapoKim de JongDawn L. DeMeoTasha E. FingerlinSina A. GharibAmund GulsvikIan P. HallJohn E. HokansonWoo Jin KimDavid A. LomasStephanie J. LondonDeborah A. MeyersGeorge T. O’ConnorStephen I. RennardDavid A. SchwartzPawel SliwinskiDavid SparrowDavid P. StrachanRuth Tal-SingerYohannes TesfaigziJørgen VestboJudith M. VonkJae Joon YimXiaobo ZhouYohan BosséAni ManichaikulLies LahousseEdwin K. SilvermanH. Marike BoezenLouise V. WainMartin D. TobinBrian D. HobbsMichael H. ChoChiara BatiniJing Hua ZhaoMatthias WielscherStefan WeissKatherine A. KentistouJames P. CookJennie HuiStefan KarraschMedea ImbodenSarah E. HarrisJonathan MartenStefan EnrothShona M. KerrIda SurakkaVeronique VitartTerho LehtimäkiRalf EwertChristian GiegerGeorg HomuthPeter K. JoshiClaudia LangenbergLars LindJian’an LuanAnubha MahajanAlison MurrayDavid J. PorteousRajesh RawalBlair H. SmithPaul R.H.J. TimmersOlli T. RaitakariMika KähönenOzren PolasekUlf GyllenstenIgor RudanIan J. DearyNicole M. Probst-HenschHolger SchulzAlan L. JamesJames F. WilsonBeate StubbeEleftheria ZegginiMarjo Riitta JarvelinNick WarehamCaroline HaywardAndrew P. MorrisAlvar AgustiNational Institute for Health and WelfareNational Jewish HealthWellcome Trust Centre for Human GeneticsGlaxoSmithKline, USAInstitut universitaire de cardiologie et de pneumologie de Québec - Université LavalNational Institute of Tuberculosis and Lung Diseases, WarszawaUniversity Hospital of GhentUniversiteit GentUniversity of LeicesterUniversité LavalErasmus MCUniversity of Western AustraliaUniversity of CambridgeMassachusetts General HospitalUniversitetet i BergenSt George's University of LondonLudwig-Maximilians-Universität MünchenNational Institute of Environmental Health SciencesUniversity of Colorado at Denver Anschutz Medical CampusUniversity of EdinburghSir Charles Gairdner HospitalTurun Yliopistollinen KeskussairaalaSchool of Clinical MedicineHelmholtz Center Munich German Research Center for Environmental HealthUniversity of Dundee College of Medicine, Dentistry and NursingUniversitat BaselSwiss Tropical and Public Health Institute (Swiss TPH)Framingham Heart StudyUCLUniversity of VirginiaUniversity of LiverpoolBrunel University LondonBrigham and Women's HospitalOulu University HospitalUniversity of Nebraska Medical CenterUniversity of Washington, SeattleImperial College LondonUniversity of NottinghamOulun YliopistoEdinburgh Medical School, Medical Research Council Human Genetics UnitVagelos College of Physicians and SurgeonsFaculty of Medicine, Siriraj Hospital, Mahidol UniversityTampereen YliopistoUniversity of Aberdeen School of MedicineLovelace Respiratory Research InstituteThe University of British ColumbiaUniversity of ArizonaUniversity of Colorado Health Sciences CenterUniversity of Western Australia Faculty of Medicine and DentistryGlenfield HospitalUniversity Hospital of TampereSveučilište u SplituTurun yliopistoBoston University School of MedicineJohns Hopkins Bloomberg School of Public HealthUniversity of Groningen, University Medical Center GroningenWellcome Sanger InstituteAstraZenecaUppsala UniversitetUniversity of ManchesterHelsingin YliopistoUniversitat de BarcelonaKangwon National UniversitySeoul National University College of MedicineWestfälische Wilhelms-Universität MünsterMember of the German Center for Lung Research (DZL)University Medicine GreifswaldNational Institute for Health Research Nottingham Biomedical Research Centre2020-01-272020-01-272019-03-01Nature Genetics. Vol.51, No.3 (2019), 494-50515461718106140362-s2.0-85062145797https://repository.li.mahidol.ac.th/handle/20.500.14594/50249© 2019, The Author(s), under exclusive licence to Springer Nature America, Inc. Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality worldwide. Genetic risk loci provide new insights into disease pathogenesis. We performed a genome-wide association study in 35,735 cases and 222,076 controls from the UK Biobank and additional studies from the International COPD Genetics Consortium. We identified 82 loci associated with P < 5 × 10−8; 47 of these were previously described in association with either COPD or population-based measures of lung function. Of the remaining 35 new loci, 13 were associated with lung function in 79,055 individuals from the SpiroMeta consortium. Using gene expression and regulation data, we identified functional enrichment of COPD risk loci in lung tissue, smooth muscle, and several lung cell types. We found 14 COPD loci shared with either asthma or pulmonary fibrosis. COPD genetic risk loci clustered into groups based on associations with quantitative imaging features and comorbidities. Our analyses provide further support for the genetic susceptibility and heterogeneity of COPD.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyArticleSCOPUS10.1038/s41588-018-0342-2