Genome-wide association study of copy number variation with lung function identifies a novel signal of association near BANP for forced vital capacity.
Shrine N., Tobin MD., Schurmann C., Soler Artigas M., Hui J., Lehtimäki T., Raitakari OT., Pennell CE., Ang QW., Strachan DP., Homuth G., Gläser S., Felix SB., Evans DM., Henderson J., Granell R., Palmer LJ., Huffman J., Hayward C., Scotland G., Malarstig A., Musk B., James AL., UK BiLEVE None., Wain LV.
BACKGROUND: 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 cohorts (n = 24,237) using intensity data from SNP genotyping experiments. We developed a pipeline for genome-wide association analysis and meta-analysis of CNV genotypes measured across multiple studies using SNP genotype array intensity data from different platform technologies. We then undertook cohort-level genome-wide association studies of CNV with lung function in a subset of 4 cohorts (n