6533b828fe1ef96bd128878f
RESEARCH PRODUCT
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 JongTaina Rantanensubject
idiopathic pulmonary-fibrosislung-function gene-expressionrespiratory systemrespiratory tract diseasesdescription
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. peerReviewed
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2014-01-01 |