Article
The multiple myeloma risk allele at 5q15 lowers ELL2 expression and increases ribosomal gene expression.
Nature communications - 25 Apr 2018
Ali Mina, Ajore Ram, Wihlborg Anna-Karin, Niroula Abhishek, Swaminathan Bhairavi, Johnsson Ellinor, Stephens Owen W, Morgan Gareth, Meissner Tobias, Turesson Ingemar, Goldschmidt Hartmut, Mellqvist Ulf-Henrik, Gullberg Urban, Hansson Markus, Hemminki Kari, Nahi Hareth, Waage Anders, Weinhold Niels, Nilsson Björn
Abstract excerpt
Recently, we identified ELL2 as a susceptibility gene for multiple myeloma (MM). To understand its mechanism of action, we performed expression quantitative trait locus analysis in CD138+ plasma cells from 1630 MM patients from four populations. We show that the MM risk allele lowers ELL2 expression in these cells (Pcombined = 2.5 × 10-27; βcombined = -0.24 SD), but not in peripheral blood or other tissues....
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