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

Nature Communications(2015)

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摘要
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 (FEV 1 ), forced vital capacity (FVC) and FEV 1 /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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Biological sciences, Genetics
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