6533b871fe1ef96bd12d1a85
RESEARCH PRODUCT
Genome-wide association analysis identifies six new loci associated with forced vital capacity
Wenbo TangStephen B. KritchevskyIan P. HallAlexessander Couto AlvesHenry VölzkeKim De JongSina A. GharibLouise V. WainAdaikalavan RamasamyJohn M. StarrTatijana ZemunikAndré G. UitterlindenIsabelle PinA. Bill MuskLina ZgagaLina ZgagaErnst OmenaasMi Kyeong LeeNadia N. HanselLewis J. SmithDana B. HancockAnne ViljanenAnneli PoutaErik MelénNora FranceschiniSusan CampbellAlicja R. RudnickaMelissa E. GarciaJemma B. WilkIgor RudanJohn BeilbyFernando RivadeneiraGudny EiriksdottirLenore J. LaunerKristin M. BurkartOzren PolasekPieter S. HiemstraRegina HampelJerome I. RotterMarkku HeliövaaraHarald GrallertTim D. SpectorAndrew P. MorrisJennifer E. HuffmanPau NavarroJing Hua ZhaoRobert A. ScottBruno H. StrickerChristopher OldmeadowYeon-mok OhChristian GiegerTove FallCaroline HaywardRodney J. ScottMika KähönenVilmundur GudnasonGuy BrusselleStefan KarraschAnne B. NewmanAlan JamesIda SurakkaIda SurakkaPeter K. JoshiR. Graham BarrFien VerhammeAlexander TeumerUlf GyllenstenJoohon SungMarjolein J. PetersRyan L. MinsterKirsi H. PietiläinenIan J. DearyLorna M. LopezMatthias WjstMyriam FornageSusan RedlineWei GaoTaina RantanenDavid J. LedererGail DaviesMary K. WojczynskiKari E. NorthBeate KochGuo LiGeorge T. O'connorGeorge T. O'connorBlair H. SmithHarry CampbellWendy B. WhiteJuha PekkanenEva AlbrechtSven GläserJoyce B. J. Van MeursStephen S. RichWendy L. McardleDeborah JarvisAni ManichaikulPirro G. HysiChristopher J HammondErik IngelssonErik IngelssonAlbert V. SmithJohn AttiaO. Dale WilliamsTamara B. HarrisSusan R. HeckbertJosée DupuisJosée DupuisBruce M. PsatyÅSa JohanssonXin-qun WangSamuli RipattiWoo Jin KimPatricia A. CassanoH. Marike BoezenDavid J. PorteousEsteban G. BurchardKurt LohmanIvana KolcicLies LahousseJames F. WilsonDirkje S. PostmaHolly TrochetNicholas J. WarehamAna ViñuelaMaría Soler ArtigasLars LindJennie HuiBharat ThyagarajanJudith M. VonkMarcy F. PetriniBonnie R. JoubertMarjo-riitta JärvelinXiangjun GuClaudia FlexederGeneration ScotlandSarah H. WildNicholas D. HastieThomas LumleyVeronique VitartLaura R. LoehrJoachim HeinrichYongmei LiuAkshay SoodTess D. PottingerAlan F. WrightAlbert HofmanRajesh KumarCisca WijmengaElizabeth G. HollidayIan SayersDavid P. StrachanMartin D. TobinStefan EnrothThor AspelundLeslie A. LangeQing DuanDaan W. LothKen R. BrackeNathan C. GaddisDavid CouperStephanie J. LondonAlanna C. MorrisonHolger SchulzJaakko KaprioJaakko Kapriosubject
SpirometryLung DiseasesVital capacityQuantitative Trait LociVital CapacityGenome-wide association studyBiologyPolymorphism Single NucleotideArticleDISEASEPulmonary function testingCohort StudiesFEV1/FVC ratioIdiopathic pulmonary fibrosisSDG 3 - Good Health and Well-beingMeta-Analysis as TopicForced Expiratory VolumeDatabases GeneticGeneticsmedicineHumansRestrictive lung diseaseLung volumesGenetic Predisposition to Diseaselung; spriometry; SNP; geneGENE-EXPRESSIONGeneticsmedicine.diagnostic_testGenome HumanHERITABILITYHEALTHY TWINMORTALITYta3141respiratory systemmedicine.diseasePrognosis3. Good healthRespiratory Function Testsrespiratory tract diseasesFAMILYLUNG-FUNCTIONGenetic LociSpirometryImmunologyCELLSIDIOPATHIC PULMONARY-FIBROSISTRAITSFollow-Up StudiesGenome-Wide Association Studydescription
Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P <5 x 10(-8)) with FVC in or near EFEMP1, BMP6, MIR129-2-HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispanic individuals. We detected transcripts for all six newly implicated genes in human lung tissue. The new loci may inform mechanisms involved in lung development and the pathogenesis of restrictive lung disease.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2014-07-01 | Nature Genetics |