Genome-wide association study of copy number variation with lung function identifies a novel signal of association near BANP for forced vital capacity.
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ABSTRACT:
SUBMITTER: Shrine N
PROVIDER: S-EPMC4981989 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
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Genome-wide association study of copy number variation with lung function identifies a novel signal of association near BANP for forced vital capacity.
Shrine Nick N Tobin Martin D MD Schurmann Claudia C Soler Artigas María M Hui Jennie J Lehtimäki Terho T Raitakari Olli T OT Pennell Craig E CE Ang Qi Wei QW Strachan David P DP Homuth Georg G Gläser Sven S Felix Stephan B SB Evans David M DM Henderson John J Granell Raquel R Palmer Lyle J LJ Huffman Jennifer J Hayward Caroline C Scotland Generation G Malarstig Anders A Musk Bill B James Alan L AL Wain Louise V LV
BMC genetics 20160811 1
<h4>Background</h4>Genome-wide association studies of Single Nucleotide Polymorphisms (SNPs) have identified 55 SNPs associated with lung function. However, little is known about the effect of copy number variants (CNVs) on lung function, although CNVs represent a significant proportion of human genetic polymorphism. To assess the effect of CNVs on lung function quantitative traits, we measured copy number at 2788 previously characterised, common copy number variable regions in 6 independent coh ...[more]
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