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Identification of Functional Variants in the FAM13A Chronic Obstructive Pulmonary Disease Genome-Wide Association
Peter J Castaldi1,2, Feng Guo1, Dandi Qiao1
11 Channing Division of Network Medicine and.
American Journal of Respiratory and Critical Care Medicine
|August 7, 2018
Summary
Researchers identified a key genetic variant, rs2013701, near the FAM13A gene that influences chronic obstructive pulmonary disease (COPD) risk. This finding advances understanding of COPD genetic underpinnings.
Area of Science:
- Genetics
- Molecular Biology
- Pulmonary Medicine
Background:
- Genome-wide association studies (GWASs) identify genetic variants linked to diseases, but pinpointing causal variants and their mechanisms remains challenging.
- The FAM13A locus has been associated with chronic obstructive pulmonary disease (COPD) susceptibility, necessitating further investigation into its regulatory elements.
Purpose of the Study:
- To identify and functionally characterize causal genetic variants within the FAM13A locus associated with COPD.
- To elucidate the regulatory mechanisms by which these variants influence disease risk.
Main Methods:
- An integrated approach combining conditional genetic analysis, massively parallel reporter assays (MPRAs), traditional reporter assays, chromatin conformation capture, and CRISPR-based gene editing.
- Characterization of variants in human bronchial epithelial cell lines to assess regulatory activity and gene expression effects.
Main Results:
- Conditional analysis revealed two independent COPD association signals in the FAM13A region.
- MPRAs identified 45 regulatory variants, with six prioritized for further study.
- One variant, rs2013701, demonstrated allele-specific regulatory activity impacting FAM13A expression and cell proliferation, confirmed by CRISPR editing.
Conclusions:
- The FAM13A GWAS association signal may comprise independent components.
- rs2013701 is a functionally validated, COPD-associated variant with allele-specific regulatory effects on FAM13A expression.
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