Article
An isoform quantitative trait locus in SBNO2 links genetic susceptibility to Crohn's disease with defective antimicrobial activity.
Nature communications - 28 May 2024
Aschenbrenner Dominik, Nassiri Isar, Venkateswaran Suresh, Pandey Sumeet, Page Matthew, Drowley Lauren, Armstrong Martin, Kugathasan Subra, Fairfax Benjamin, Uhlig Holm H
Abstract excerpt
Despite major advances in linking single genetic variants to single causal genes, the significance of genetic variation on transcript-level regulation of expression, transcript-specific functions, and relevance to human disease has been poorly investigated. Strawberry notch homolog 2 (SBNO2) is a candidate gene in a susceptibility locus with different variants associated with Crohn's disease and bone mineral...
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