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

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


Title: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma
Author: Gudbjartsson, Daniel   orcid.org/0000-0002-5222-9857
Thorsteinsdottir, Unnur   orcid.org/0000-0002-7049-2827
Date: 2018-09-13
Language: English
Scope: 3707
University/Institute: Háskóli Íslands
University of Iceland
School: Verkfræði- og náttúruvísindasvið (HÍ)
School of Engineering and Natural Sciences (UI)
Heilbrigðisvísindasvið (HÍ)
School of Health Sciences (UI)
Department: Læknadeild (HÍ)
Faculty of Medicine (UI)
Series: Nature Communications;9(1)
ISSN: 2041-1723
DOI: 10.1038/s41467-018-04989-w
Subject: Cancer genetics; Cancer genomics; Genome-wide association studies; Myeloma; Krabbamein; Erfðafræði; Genamengi; Erfðarannsóknir; Mergæxli
URI: https://hdl.handle.net/20.500.11815/1604

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Citation:

Went, M., Sud, A., Försti, A. et al. Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma. Nat Commun 9, 3707 (2018). https://doi.org/10.1038/s41467-018-04989-w

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. Dysregulation of autophagy/apoptosis and cell cycle signalling feature as recurrently perturbed pathways. Our findings provide further insight into the biological basis of MM.

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