Multi-trait Analysis of GWAS Expands Eosinophilic Esophagitis Genetic Susceptibility and Polygenic Risk Scores - PubMed
4 hours ago
- #Eosinophilic Esophagitis
- #Polygenic Risk Score
- #GWAS
- Multi-trait analysis of GWAS (MTAG) was used to expand the discovery of genetic risk loci for eosinophilic esophagitis (EoE).
- The study included 1,757 individuals with EoE and 14,467 population controls, integrating data with other atopic disease GWAS from UK Biobank (>450,000 subjects).
- The EoE-only GWAS identified 11 independent risk variants across 8 loci, including 3 novel loci.
- MTAG identified 33 independent EoE risk variants across 24 loci, including 14 novel loci.
- Functional analyses nominated 90 candidate EoE risk genes, some implicating mechanisms beyond type 2 immunity.
- A polygenic risk score (PRS) derived from MTAG outperformed the EoE-only GWAS PRS (OR 11.57 for top vs bottom decile).
- The study provides a public resource (EGIDExpress) for dataset queries and visualization to advance research in the field.