| Autor: |
Miriam Stricker, Weijiao Zhang, Wei-Yi Cheng, Steven Gazal, Calliope Dendrou, Satu Nahkuri, Pier Francesco Palamara |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Cell Genomics, Vol 4, Iss 1, Pp 100469- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2666-979X |
| DOI: |
10.1016/j.xgen.2023.100469 |
| Popis: |
Summary: Epigenetics underpins the regulation of genes known to play a key role in the adaptive and innate immune system (AIIS). We developed a method, EpiNN, that leverages epigenetic data to detect AIIS-relevant genomic regions and used it to detect 2,765 putative AIIS loci. Experimental validation of one of these loci, DNMT1, provided evidence for a novel AIIS-specific transcription start site. We built a genome-wide AIIS annotation and used linkage disequilibrium (LD) score regression to test whether it predicts regional heritability using association statistics for 176 traits. We detected significant heritability effects (average |τ∗|=1.65) for 20 out of 26 immune-relevant traits. In a meta-analysis, immune-relevant traits and diseases were 4.45× more enriched for heritability than other traits. The EpiNN annotation was also depleted of trans-ancestry genetic correlation, indicating ancestry-specific effects. These results underscore the effectiveness of leveraging supervised learning algorithms and epigenetic data to detect loci implicated in specific classes of traits and diseases. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
