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



Nature communications, 2015; 6 doi:10.1038/ncomms9658

Authors: Soler Artigas María, Wain Louise V, Miller Suzanne, Kheirallah Abdul Kader, Huffman Jennifer E et al.(85)

Affiliation: University of Leicester, United Kingdom; University of Leicester, United Kingdom; University of Nottingham, United Kingdom; University of Nottingham, United Kingdom; University of Edinburgh, United Kingdom (show more (144))

Abstract: 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.














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