Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.
Nature communications 2015 ; 6: 8658.
Huffman JE, Ntalla I, McArdle WL, Zhao JH, Joshi PK, Teumer A, Albrecht E, Rawal R, Marten J, Enroth S, Polasek O, Lyytikäinen LP, Hysi PG, Mahajan A, Beilby J, Campbell H, Gieger C, Grallert H, Hammond CJ, Harris SE, Hartikainen AL, Heliövaara M, Ingelsson E, Johansson Å, Kolcic I, Lind L, Melén E, Musk AW, Navarro P, Padmanabhan S, Raitakari OT, Ried JS, Ripatti S, Scott RA, Starr JM, Völzke H, Wright AF, Zemunik T, Spector TD, Lehtimäki T, Vitart V, Kähönen M, Gyllensten U, Rudan I, Deary IJ, Heinrich J, Wilson JF, Wareham NJ, James AL, Morris AP, Järvelin MR, Hayward C, and Strachan DP
DOI : 10.1038/ncomms9658
PubMed ID : 26635082
PMCID : PMC4686825
Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P<5 × 10(-8)) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.