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Genome-wide association study identifies multiple susceptibility loci for multiple myeloma

Lookup NU author(s): Professor Graham Jackson



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Multiple myeloma (MM) is a plasma cell malignancy with a significant heritable basis. Genome-wide association studies have transformed our understanding of MM predisposition, but individual studies have had limited power to discover risk loci. Here we perform a meta-analysis of these GWAS, add a new GWAS and perform replication analyses resulting in 9,866 cases and 239,188 controls. We confirm all nine known risk loci and discover eight new loci at 6p22.3 (rs34229995, P = 1.31 x 10(-8)), 6q21 (rs9372120, P = 9.09 x 10(-15)), 7q36.1 (rs7781265, P = 9.71 x 10(-9)), 8q24.21 (rs1948915, P = 4.20 x 10(-11)), 9p21.3 (rs2811710, P = 1.72 x 10(-13)), 10p12.1 (rs2790457, P = 1.77 x 10(-8)), 16q23.1 (rs7193541, P = 5.00 x 10(-12)) and 20q13.13 (rs6066835, P = 1.36 x 10(-13)), which localize in or near to JARID2, ATG5, SMARCD3, CCAT1, CDKN2A, WAC, RFWD3 and PREX1. These findings provide additional support for a polygenic model of MM and insight into the biological basis of tumour development.

Publication metadata

Author(s): Mitchell JS, Li N, Weinhold N, Forsti A, Ali M, van Duin M, Thorleifsson G, Johnson DC, Chen BW, Halvarsson BM, Gudbjartsson DF, Kuiper R, Stephens OW, Bertsch U, Broderick P, Campo C, Einsele H, Gregory WA, Gullberg U, Henrion M, Hillengass J, Hoffmann P, Jackson GH, Johnsson E, Joud M, Kristinsson SY, Lenhoff S, Lenive O, Mellqvist UH, Migliorini G, Nahi H, Nelander S, Nickel J, Nothen MM, Rafnar T, Ross FM, da Silva MI, Swaminathan B, Thomsen H, Turesson I, Vangsted A, Vogel U, Waage A, Walker BA, Wihlborg AK, Broyl A, Davies FE, Thorsteinsdottir U, Langer C, Hansson M, Kaiser M, Sonneveld P, Stefansson K, Morgan GJ, Goldschmidt H, Hemminki K, Nilsson B, Houlston RS

Publication type: Article

Publication status: Published

Journal: Nature Communications

Year: 2016

Volume: 7

Print publication date: 01/07/2016

Online publication date: 01/07/2016

Acceptance date: 24/05/2016

Date deposited: 20/09/2016

ISSN (print): 2041-1723

Publisher: Nature Publishing Group


DOI: 10.1038/ncomms12050


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Funder referenceFunder name
Dietmar-Hopp-Stiftung, Germany
Multiple Myeloma Research Foundation
Myeloma UK
Royal Swedish Academy of Science
Swedish Society of Medicine
German Center for Neurodegenerative Disorders (DZNE), Bonn
Medical Faculty at Lund University
Rosetrees Trust
Siv-Inger and Per-Erik Andersson Foundation
110German Cancer Aid
2010.0112Marianne and Marcus Wallenberg Foundation
2012-1753Swedish Research Council
131German Cancer Aid
2012.0193Knut and Alice Wallenberg Foundation
C1298/A8362Cancer Research UK - Bobby Moore Fund
CLIOMMICS 01ZX1309German Ministry of Education and Science
DFG CRU 216German Research Council (DFG)
ER 155/6-1German Research Council (DFG)
KF10-0009Swedish Foundation for Strategic Research
P01CA055819National Institutes of Health
SI 236/8-1German Research Council (DFG)
SI236/9-1German Research Council (DFG)