Article
Multiple myeloma risk variant at 7p15.3 creates an IRF4-binding site and interferes with CDCA7L expression.
Nature communications - 24 Nov 2016
Li Ni, Johnson David C, Weinhold Niels, Studd James B, Orlando Giulia, Mirabella Fabio, Mitchell Jonathan S, Meissner Tobias, Kaiser Martin, Goldschmidt Hartmut, Hemminki Kari, Morgan Gareth J, Houlston Richard S
Abstract excerpt
Genome-wide association studies have identified several risk loci for multiple myeloma (MM); however, the mechanisms by which they influence MM are unknown. Here by using genetic association data and functional characterization, we demonstrate that rs4487645 G>T, the most highly associated variant (P = 5.30 × 10-25), resides in an enhancer element 47 kb upstream of the transcription start site of...
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