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

Soler Artigas, María; Wain, Louise V; Miller, Suzanne; Kheirallah, Abdul Kader; Huffman, Jennifer E; Ntalla, Ioanna; Shrine, Nick; Obeidat, Ma'en et al. · Nat Commun · 2015

other · Level V

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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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