TSEA-DB: a trait-tissue association map for human complex traits and diseases

Area of Science:

• Genetics and Genomics
• Bioinformatics
• Human Trait and Disease Association Studies

Background:

• Identifying causal tissues for human traits and diseases is crucial for genetic variant interpretation, understanding disease etiology, and refining treatment strategies.
• Existing resources often lack comprehensive, easily accessible data linking genome-wide association study (GWAS) results to tissue-specific gene expression.

Purpose of the Study:

• To establish a comprehensive reference database, the Tissue-Specific Enrichment Analysis DataBase (TSEA-DB), for trait-associated tissue specificity.
• To provide a platform for exploring and analyzing associations between human traits/diseases and specific tissues using GWAS data.

Main Methods:

• Collected and quality-controlled GWAS summary statistics from UK Biobank (UKBB), GWAS Catalog, and literature mining, totaling 5019 datasets.
• Performed systematic tissue-specific enrichment analysis using the deTS tool and gene expression profiles from GTEx (47 tissues) and ENCODE (44 tissues) panels.
• Integrated 15,770 trait-associated gene sets into the TSEA-DB.

Main Results:

• The TSEA-DB currently houses 5019 unique GWAS datasets and 15,770 trait-associated gene sets.
• The database provides comprehensive trait-tissue association results, enabling easy access, searching, visualization, and comparison.
• The web-accessible TSEA-DB facilitates exploration of human trait-tissue associations.

Conclusions:

• TSEA-DB serves as a valuable reference resource for researchers investigating the tissue specificity of human traits and diseases.
• The database enhances the interpretation of GWAS findings by linking genetic associations to specific biological tissues.
• TSEA-DB contributes to a deeper understanding of disease mechanisms and potential therapeutic targets.