Identification of Functional Variants in the FAM13A Chronic Obstructive Pulmonary Disease Genome-Wide Association Study Locus by Massively Parallel Reporter Assays.

Peter J CastaldiFeng GuoDandi QiaoFei DuZun Zar Chi NaingYan LiBetty PhamTarjei S MikkelsenMichael H ChoEdwin K SilvermanXiaobo Zhou

Published in: American journal of respiratory and critical care medicine (2019)

The human GWAS association near FAM13A may contain independent association signals. MPRAs identified multiple functional variants in this region, including rs2013701, a putative COPD-causing variant with allele-specific regulatory activity.

Keyphrases

genome wide association study
chronic obstructive pulmonary disease
copy number
lung function
endothelial cells
transcription factor
crispr cas
high throughput
gene expression
cystic fibrosis
pluripotent stem cells
dna methylation
air pollution