Functional characterization of 5p15.33 risk locus in uveal melanoma reveals rs452384 as a functional variant and NKX2.4 as an allele-specific interactor

Derrien et  al. identified rs452384 as a functional variant implicated in uveal melanoma risk at the multi-cancer 5p15.33 risk locus, mediating allele-specific expression and differentially binding NKX2.4 and GATA4 transcription factors. These findings unravel some of the complex regulatory mechanisms in uvea l melanoma susceptibility.

Source: The American Journal of Human Genetics - December 1, 2022 Category: Genetics & Stem Cells Authors: Anne-C éline Derrien, Alexandre Houy, Olivier Ganier, Florent Dingli, Massih Ningarhari, Lenha Mobuchon, María Isabel Espejo Díaz, Damarys Loew, Nathalie Cassoux, Olivier Cussenot, Géraldine Cancel-Tassin, Raphael Margueron, Josselin Noirel, Jessica Z Tags: Article Source Type: research