ArticleAmerican journal of human genetics2025
Haplotype analysis reveals pleiotropic disease associations in the HLA region.
Article in American journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed.
- Immune markers mediate genetic relationships between immune diseases and psychiatric disorders.PLoS genetics · 2026Article
- Shared trans-ancestry architecture of HLA-mediated disease risk in theResearch square · 2026Article
- Shared trans-ancestry architecture of HLA-mediated disease risk in themedRxiv : the preprint server for health sciences · 2026Article
- Identification of a type 1 diabetes-associated T cell receptor repertoire signature from the human peripheral blood.Science advances · 2026Article
- Rheumatoid arthritis and gout: a rare combination or overlooked coexistence?Arthritis research & therapy · 2026Article
- Global patterns of natural selection inferred using ancient DNA.bioRxiv : the preprint server for biology · 2026Article
- Article
- Unraveling immunity: insights from biobank-scale data.Trends in genetics : TIG · 2025Article
- Complexity welcome: Pangenome graphs for comprehensive population genomics.Quantitative plant biology · 2025Review
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Abstract
The human leukocyte antigen (HLA) region plays an important role in human health through its involvement in immune cell recognition and maturation. While genetic variation in the HLA region is associated with many diseases, the pleiotropic patterns of these associations have not been systematically investigated. Here, we developed a haplotype approach to investigate disease associations phenome wide for 412,181 Finnish individuals and 2,459 diseases. Across the 1,035 diseases with a genome-wide association study association, we found a 17-fold average per-SNP enrichment of hits in the HLA region. Altogether, we identified 7,649 HLA associations across 647 diseases, including 1,750 associations uncovered by haplotype analysis. We found that some haplotypes show both risk-increasing and protective associations across different diseases, while others consistently increase risk across diseases, indicating a complex pleiotropic landscape involving a range of diseases. This study highlights the extensive impact of HLA variation on disease risk and underscores the importance of classical and non-classical genes as well as non-coding variation.
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