Year: 2022
Type: conference-paper
Abstract: Although many diseases primarily affect the lungs, most of these diseases also involve other organ systems. Moreover, current diagnostic categories for complex lung diseases include heterogeneous syndromes rather than distinct pathobiological processes. Large-scale genome-wide association studies (GWAS) in many thousands of COPD cases and control subjects have identified more than 80 genomic regions that contain COPD susceptibility genes. Combining statistical fine mapping and open chromatin assays has enabled the identification of some of the functional variants within these GWAS loci. Although genetic association studies have provided important insights into many complex diseases, single genetic variants are unlikely to explain complex diseases, because perturbations of biological networks, not isolated genes, confer disease risk. Using protein-protein interaction network analysis, we have identified a biological connection between two COPD GWAS genes, FAM13A and TGFB2. Different Omics data types provide complementary information about complex diseases. When analyzed within a network context, multiple Omics data has the potential to provide new insights into the pathogenesis and heterogeneity of complex lung diseases.
Author: Edwin K. Silverman
Institution: Brigham and Women's Hospital
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
OpenAlex ID: W4293493897