ArticlemedRxiv : the preprint server for health sciences2025
Epistatic contributions to human traits via transcription factor mechanisms.
Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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7 authors.
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Abstract
Epistasis causes an individual's genetic background to modulate a DNA variant's effect on trait [1-6]. Epistatic interactions among different loci in human complex traits are expected to be widespread but have not been found [7]. This could be due to small interaction effect sizes, the statistical complexity of estimating interactions that is higher than marginal variant effects, and a substantial multiple testing burden in a genome-wide scan [8-11]. Targeting interacting variants that contribute to the same biological pathway could lighten this burden. Here we combined Targeted Machine Learning [12, 13] with experimentally verified differential binding variants across 9 nuclear hormone receptors (NHR) to identify 535 two-point DNA variant-variant and 185 three-point variant-variant-sex NHR interactions among 768 traits in the UK Biobank (UKB) at a false discovery rate per trait of less than 0.05. Significance testing combined k allele-specific components into a Hotelling's
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