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GWAS Study

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

Went M, Sud A, Försti A et al.

30213928 PubMed ID
GWAS Study Type
257530 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

WM
Went M
SA
Sud A
FA
Försti A
HB
Halvarsson BM
WN
Weinhold N
KS
Kimber S
VD
van Duin M
TG
Thorleifsson G
HA
Holroyd A
JD
Johnson DC
LN
Li N
OG
Orlando G
LP
Law PJ
AM
Ali M
CB
Chen B
MJ
Mitchell JS
GD
Gudbjartsson DF
KR
Kuiper R
SO
Stephens OW
BU
Bertsch U
BP
Broderick P
CC
Campo C
BO
Bandapalli OR
EH
Einsele H
GW
Gregory WA
GU
Gullberg U
HJ
Hillengass J
HP
Hoffmann P
JG
Jackson GH
JK
Jöckel KH
JE
Johnsson E
KS
Kristinsson SY
MU
Mellqvist UH
NH
Nahi H
ED
Easton D
PP
Pharoah P
DA
Dunning A
PJ
Peto J
CF
Canzian F
SA
Swerdlow A
ER
Eeles RA
KZ
Kote-Jarai Z
MK
Muir K
PN
Pashayan N
NJ
Nickel J
NM
Nöthen MM
RT
Rafnar T
RF
Ross FM
DS
da Silva Filho MI
TH
Thomsen H
TI
Turesson I
VA
Vangsted A
AN
Andersen NF
WA
Waage A
WB
Walker BA
WA
Wihlborg AK
BA
Broyl A
DF
Davies FE
TU
Thorsteinsdottir U
LC
Langer C
HM
Hansson M
GH
Goldschmidt H
KM
Kaiser M
SP
Sonneveld P
SK
Stefansson K
MG
Morgan GJ
HK
Hemminki K
NB
Nilsson B
HR
Houlston RS
Chapter II

Abstract

Summary of the research findings

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.

8,197 European ancestry cases, 241,468 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

257530
Total Participants
GWAS
Study Type
Yes
Replicated
1,777 European ancestry cases, 6,088 European ancestry controls
Replication Participants
European
Ancestry
Germany, U.S., Netherlands, Iceland, Norway, Sweden, U.K., Denmark
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

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