This study generated expression quantitative trait loci (eQTLs) from four tonsil-derived immune cell populations — naïve B, germinal center (GC) B, naïve T, and T follicular helper (Tfh) cells — isolated from 103 children aged 1–18 (mean age 6.2 years), then linked these eQTLs to GWAS signals for pediatric and adult asthma and atopy traits via colocalization.
The study identified 13,393 eGenes (1,793 novel) driven by 27,603 eQTLs (5,199 novel vs. DICE/eQTLgen); colocalization with 6 atopy GWAS traits nominated 78 candidate eGenes, including 16 previously proposed pediatric asthma genes (e.g., TRAF3, JAZF1, TNFSF4) and 20 newly nominated candidates (e.g., ZBTB10, EEFSEC, TNFSF11), most undetectable by adult peripheral-blood eQTL resources.
- No adult tonsil samples were included, so it is unclear whether novel findings reflect developmental stage, tissue context, or both. - Sample size (n=103) is modest vs. large blood-based eQTL studies (e.g., eQTLgen n=31,684), limiting power for small-effect or low-frequency variants. - Ancestry data were not self-reported; the cohort is ~56% European-like, limiting generalizability and the ability to capture ancestry-specific signals.
This freely available pediatric tonsillar eQTL resource can help clinicians and researchers link childhood atopy GWAS signals to specific immune cell types and candidate genes — especially GC B and Tfh cells — that are absent from adult blood-based databases. Genes like TRAF3, ZBTB10, and JAZF1 emerge as mechanistically plausible targets in disease-relevant cell types, informing future therapeutic prioritization for pediatric asthma and atopy.
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