Ontology highlight
ABSTRACT:
SUBMITTER: Li N
PROVIDER: S-EPMC5608969 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Li Ni N Johnson David C DC Weinhold Niels N Kimber Scott S Dobbins Sara E SE Mitchell Jonathan S JS Kinnersley Ben B Sud Amit A Law Philip J PJ Orlando Giulia G Scales Matthew M Wardell Christopher P CP Försti Asta A Hoang Phuc H PH Went Molly M Holroyd Amy A Hariri Fadi F Pastinen Tomi T Meissner Tobias T Goldschmidt Hartmut H Hemminki Kari K Morgan Gareth J GJ Kaiser Martin M Houlston Richard S RS
Cell reports 20170901 11
Multiple myeloma (MM) is a malignancy of plasma cells. Genome-wide association studies have shown that variation at 5q15 influences MM risk. Here, we have sought to decipher the causal variant at 5q15 and the mechanism by which it influences tumorigenesis. We show that rs6877329 G > C resides in a predicted enhancer element that physically interacts with the transcription start site of ELL2. The rs6877329-C risk allele is associated with reduced enhancer activity and lowered ELL2 expression. Sin ...[more]