Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.

Soler Artigas M, Wain LV, Miller S, Kheirallah AK, Huffman JE, Ntalla I, Shrine N, Obeidat M, Trochet H, McArdle WL, Alves AC, Hui J, Zhao JH, Joshi PK, Teumer A, Albrecht E, Imboden M, Rawal R, Lopez LM, Marten J, Enroth S, Surakka I, Polasek O, Lyytikäinen LP, Granell R, Hysi PG, Flexeder C, Mahajan A, Beilby J, Bossé Y, Brandsma CA, Campbell H, Gieger C, Gläser S, González JR, Grallert H, Hammond CJ, Harris SE, Hartikainen AL, Heliövaara M, Henderson J, Hocking L, Horikoshi M, Hutri-Kähönen N, Ingelsson E, Johansson Å, Kemp JP, Kolcic I, Kumar A, Lind L, Melén E, Musk AW, Navarro P, Nickle DC, Padmanabhan S, Raitakari OT, Ried JS, Ripatti S, Schulz H, Scott RA, Sin DD, Starr JM, UK BiLEVE , Viñuela A, Völzke H, Wild SH, Wright AF, Zemunik T, Jarvis DL, Spector TD, Evans DM, Lehtimäki T, Vitart V, Kähönen M, Gyllensten U, Rudan I, Deary IJ, Karrasch S, Probst-Hensch NM, Heinrich J, Stubbe B, Wilson JF, Wareham NJ, James AL, Morris AP, Jarvelin MR, Hayward C, Sayers I, Strachan DP, Hall IP, Tobin MD

Nat Commun 6 (-) 8658 [2015-12-04; online 2015-12-04]

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.

NGI Uppsala (SNP&SEQ Technology Platform)

National Genomics Infrastructure

PubMed 26635082

DOI 10.1038/ncomms9658

Crossref 10.1038/ncomms9658

pii: ncomms9658
pmc: PMC4686825