Author

Chung-Chih Liao

View on Semantic Scholar

2 papers indexed here

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Open access Aug 2026

Integrative Multivariate Genomics Identifies Shared Epithelial–Immune and Cytokine-Regulatory Mechanisms Across Major Chronic Lung Diseases

Chronic lung diseases, including asthma, chronic obstructive pulmonary disease, bronchiectasis, and idiopathic pulmonary fibrosis, are clinically distinct but share epithelial injury, host-defense, inflammatory, and remodeling processes. We integrated European-ancestry genome-wide association study (GWAS) summary statistics for these four diseases using genomic structural equation modeling to construct a multivariate chronic lung disease (mvCLD) factor. Variant-level association testing was combined with genomic control assessment, locus annotation, GWAS-by-subtraction, fine-mapping, transcriptomic prioritization, pathway enrichment, single-cell spatial mapping, and heritability partitioning. For discovery, across 6,255,777 autosomal variants, mvCLD identified 2067 genome-wide significant variants, 30 loci, and 53 lead variants. Five lead variants were genome-wide significant for mvCLD but not for any component disease and showed high-confidence fine-mapping support. For gene prioritization, transcriptomic and gene-level analyses prioritized 21 candidate genes, including ORMDL3, GSDMB, IL18RAP, IL18R1, IL1R1, SMAD3, and CLEC16A. In exploratory functional analyses, enrichment analyses converged on interleukin, cytokine-receptor, JAK-STAT, interleukin-4/interleukin-13, thymic stromal lymphopoietin, asthma, and lung fibrosis pathways. Exploratory single-cell spatial mapping, based on a mouse embryonic atlas, showed the strongest overall enrichment in the lung annotation, although cross-dataset cell-type and tissue analyses did not reach significance after false discovery rate correction; heritability partitioning implicated conserved and active regulatory elements. These findings support a shared epithelial–immune and cytokine-regulatory genetic architecture across major chronic lung diseases and nominate biologically coherent candidate genes and pathways for future functional and translational studies.

Chung-Chih Liao, Ke-Ru Liao, Jung-Miao Li · International Journal of Mol... · 0 citations

Jul 2026

Genome-wide cross-trait analysis reveals immunogenetic pleiotropy between autoimmune diseases and myocardial infarction and prioritizes therapeutic targets.

BACKGROUND AND AIMS Autoimmune diseases (ADs) are associated with increased myocardial infarction (MI) risk, suggesting shared genetic susceptibility. We systematically investigated the shared genetic architecture, pleiotropic loci, and candidate therapeutic targets linking ADs and MI. METHODS We analyzed genome-wide association study summary statistics for 10 ADs and MI, primarily from European-ancestry populations. Linkage disequilibrium score regression, high-definition likelihood, stratified linkage disequilibrium score regression, pleiotropy analysis, Bayesian colocalization, and immune-trait colocalization were performed. Candidate genes were prioritized using summary-data-based Mendelian randomization and followed up using quantitative polymerase chain reaction in hypoxia-treated HL-1 cardiomyocytes and by descriptive expression profiling in single-cell RNA sequencing datasets from human atherosclerotic plaques and cardiac resident immune cells. RESULTS MI showed significant positive genetic correlations with Crohn's disease, rheumatoid arthritis (RA), and primary biliary cholangitis (PBC) after false discovery rate correction. We identified 49 pleiotropic loci, including 7 with colocalization evidence compatible with a shared causal variant. Integrative analyses prioritized 12 candidate genes, with SH2B3, TMEM116, and ACAD10 highlighted across multiple disease pairs. Immune-trait colocalization highlighted activated monocyte- and T-cell-related features in RA-MI and PBC-MI. In HL-1 cardiomyocytes, hypoxia increased Acad10, Sh2b3, and Tmem116 expression over time. In single-cell datasets, SH2B3 showed prominent expression in plaque macrophages, endothelial cells, and cardiac resident macrophages. CONCLUSIONS Specific ADs and MI share an immunogenetic architecture involving immune and vascular pathways. These findings prioritize pleiotropic loci, candidate genes, and immune-cell contexts that warrant further mechanistic investigation.

Chung-Chih Liao, W. Hu, Shun-Fa Yang et al. · Atherosclerosis · 0 citations