Genome-wide association analysis identifies six new loci associated with forced vital capacity.

Daan W LothMaría Soler ArtigasSina A GharibLouise V WainNora FranceschiniBeate KochTess D PottingerAlbert Vernon SmithQing DuanChris OldmeadowMi Kyeong LeeDavid P StrachanAlan L JamesJennifer E HuffmanVeronique VitartAdaikalavan RamasamyNicholas J WarehamJaakko KaprioXin-Qun WangHolly TrochetMika KähönenClaudia FlexederEva AlbrechtLorna M LopezKim de JongBharat ThyagarajanAlexessander Couto AlvesStefan EnrothErnst OmenaasPeter K JoshiTove FallAna ViñuelaLenore J LaunerLaura R LoehrMyriam FornageGuo LiJemma B WilkWenbo TangAni ManichaikulLies LahousseTamara B HarrisKari E NorthAlicja R RudnickaJennie HuiXiangjun GuThomas LumleyAlan F WrightNicholas D HastieSusan CampbellRajesh KumarIsabelle PinRobert A ScottKirsi H PietiläinenIda SurakkaYongmei LiuElizabeth G HollidayHolger SchulzJoachim HeinrichGail DaviesJudith M VonkMary WojczynskiAnneli PoutaÅsa JohanssonSarah H WildErik IngelssonFernando RivadeneiraHenry VölzkePirro G HysiGudny EiriksdottirAlanna C MorrisonJerome I RotterWei GaoDirkje S PostmaWendy B WhiteStephen S RichAlbert HofmanThor AspelundDavid CouperLewis J SmithBruce M PsatyKurt LohmanEsteban G BurchardAndré G UitterlindenMelissa GarciaBonnie R JoubertWendy L McArdleA Bill MuskNadia HanselSusan R HeckbertLina ZgagaJoyce B J van MeursPau NavarroIgor RudanYeon-Mok OhSusan RedlineDeborah L JarvisJing Hua ZhaoTaina RantanenGeorge T O'ConnorSamuli RipattiRodney J ScottStefan KarraschHarald GrallertNathan C GaddisJohn M StarrCisca WijmengaRyan L MinsterDavid J LedererJuha PekkanenUlf GyllenstenHarry CampbellAndrew P MorrisSven GläserChristopher J HammondKristin M BurkartJohn BeilbyStephen B KritchevskyVilmundur GudnasonDana B HancockO Dale WilliamsOzren PolasekTatijana ZemunikIvana KolcicMarcy F PetriniMatthias WjstWoo Jin KimDavid J PorteousGeneration ScotlandBlair H SmithAnne ViljanenMarkku HeliövaaraJohn R AttiaIan SayersRegina HampelChristian GiegerIan J DearyH Marike BoezenAnne NewmanMarjo-Riitta JarvelinJames F WilsonLars LindBruno H StrickerAlexander TeumerTimothy D SpectorErik MelénMarjolein J PetersLeslie A LangeR Graham BarrKen R BrackeFien M VerhammeJoohon SungPieter S HiemstraPatricia A CassanoAkshay SoodCaroline HaywardJosée DupuisIan P HallGuy G BrusselleMartin D TobinStephanie J London

Published in: Nature genetics (2014)

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 × 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.

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