Journal article

Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.

Molly Went, Amit Sud, Asta Försti, Britt-Marie Halvarsson, Niels Weinhold, Scott Kimber, Mark van Duin, Gudmar Thorleifsson, Amy Holroyd, David C Johnson, Ni Li, Giulia Orlando, Philip J Law, Mina Ali, Bowang Chen, Jonathan S Mitchell, Daniel F Gudbjartsson, Rowan Kuiper, Owen W Stephens, Uta Bertsch Show all

Nature Communications | Published : 2018

Abstract

Genome-wide association studies (GWAS) have transformed our understanding of susceptibility to multiple myeloma (MM), but much of the heritability remains unexplained. We report a new GWAS, a meta-analysis with previous GWAS and a replication series, totalling 9974 MM cases and 247,556 controls of European ancestry. Collectively, these data provide evidence for six new MM risk loci, bringing the total number to 23. Integration of information from gene expression, epigenetic profiling and in situ Hi-C data for the 23 risk loci implicate disruption of developmental transcriptional regulators as a basis of MM susceptibility, compatible with altered B-cell differentiation as a key mechanism. Dys..

View full abstract