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A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.

Rothman N, Garcia-Closas M, Chatterjee N et al.

20972438 PubMed ID
GWAS Study Type
65308 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

RN
Rothman N
GM
Garcia-Closas M
CN
Chatterjee N
MN
Malats N
WX
Wu X
FJ
Figueroa JD
RF
Real FX
VD
Van Den Berg D
MG
Matullo G
BD
Baris D
TM
Thun M
KL
Kiemeney LA
VP
Vineis P
DV
De Vivo I
AD
Albanes D
PM
Purdue MP
RT
Rafnar T
HM
Hildebrandt MA
KA
Kiltie AE
CO
Cussenot O
GK
Golka K
KR
Kumar R
TJ
Taylor JA
MJ
Mayordomo JI
JK
Jacobs KB
KM
Kogevinas M
HA
Hutchinson A
WZ
Wang Z
FY
Fu YP
PL
Prokunina-Olsson L
BL
Burdett L
YM
Yeager M
WW
Wheeler W
TA
Tardón A
SC
Serra C
CA
Carrato A
GR
García-Closas R
LJ
Lloreta J
JA
Johnson A
SM
Schwenn M
KM
Karagas MR
SA
Schned A
AG
Andriole G
GR
Grubb R
BA
Black A
JE
Jacobs EJ
DW
Diver WR
GS
Gapstur SM
WS
Weinstein SJ
VJ
Virtamo J
CV
Cortessis VK
GM
Gago-Dominguez M
PM
Pike MC
SM
Stern MC
YJ
Yuan JM
HD
Hunter DJ
MM
McGrath M
DC
Dinney CP
CB
Czerniak B
CM
Chen M
YH
Yang H
VS
Vermeulen SH
AK
Aben KK
WJ
Witjes JA
MR
Makkinje RR
SP
Sulem P
BS
Besenbacher S
SK
Stefansson K
RE
Riboli E
BP
Brennan P
PS
Panico S
NC
Navarro C
AN
Allen NE
BH
Bueno-de-Mesquita HB
TD
Trichopoulos D
CN
Caporaso N
LM
Landi MT
CF
Canzian F
LB
Ljungberg B
TA
Tjonneland A
CF
Clavel-Chapelon F
BD
Bishop DT
TM
Teo MT
KM
Knowles MA
GS
Guarrera S
PS
Polidoro S
RF
Ricceri F
SC
Sacerdote C
AA
Allione A
CG
Cancel-Tassin G
SS
Selinski S
HJ
Hengstler JG
DH
Dietrich H
FT
Fletcher T
RP
Rudnai P
GE
Gurzau E
KK
Koppova K
BS
Bolick SC
GA
Godfrey A
XZ
Xu Z
SJ
Sanz-Velez JI
DG
D García-Prats M
SM
Sanchez M
VG
Valdivia G
PS
Porru S
BS
Benhamou S
HR
Hoover RN
FJ
Fraumeni JF
SD
Silverman DT
CS
Chanock SJ
Chapter II

Abstract

Summary of the research findings

We conducted a multi-stage, genome-wide association study of bladder cancer with a primary scan of 591,637 SNPs in 3,532 affected individuals (cases) and 5,120 controls of European descent from five studies followed by a replication strategy, which included 8,382 cases and 48,275 controls from 16 studies. In a combined analysis, we identified three new regions associated with bladder cancer on chromosomes 22q13.1, 19q12 and 2q37.1: rs1014971, (P = 8 × 10⁻¹²) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 × 10⁻¹¹) on 19q12 maps to CCNE1 and rs11892031 (P = 1 × 10⁻⁷) maps to the UGT1A cluster on 2q37.1. We confirmed four previously identified genome-wide associations on chromosomes 3q28, 4p16.3, 8q24.21 and 8q24.3, validated previous candidate associations for the GSTM1 deletion (P = 4 × 10⁻¹¹) and a tag SNP for NAT2 acetylation status (P = 4 × 10⁻¹¹), and found interactions with smoking in both regions. Our findings on common variants associated with bladder cancer risk should provide new insights into the mechanisms of carcinogenesis.

3,532 European ancestry cases, 5,120 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

65308
Total Participants
GWAS
Study Type
Yes
Replicated
8,381 cases, 48,275 controls
Replication Participants
European
Ancestry
Finland, Sweden, U.S., Iceland, Italy, Netherlands, Romania, Greece, Germany, U.K., Spain, Hungary, Slovakia, France, Norway
Recruitment Country
Chapter IV

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