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GWAS Study

The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia.

Hsiung CA, Lan Q, Hong YC et al.

20700438 PubMed ID
GWAS Study Type
5868 Participants
86 Views
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

HC
Hsiung CA
LQ
Lan Q
HY
Hong YC
CC
Chen CJ
HH
Hosgood HD
CI
Chang IS
CN
Chatterjee N
BP
Brennan P
WC
Wu C
ZW
Zheng W
CG
Chang GC
WT
Wu T
PJ
Park JY
HC
Hsiao CF
KY
Kim YH
SH
Shen H
SA
Seow A
YM
Yeager M
TY
Tsai YH
KY
Kim YT
CW
Chow WH
GH
Guo H
WW
Wang WC
SS
Sung SW
HZ
Hu Z
CK
Chen KY
KJ
Kim JH
CY
Chen Y
HL
Huang L
LK
Lee KM
LY
Lo YL
GY
Gao YT
KJ
Kim JH
LL
Liu L
HM
Huang MS
JT
Jung TH
JG
Jin G
CN
Caporaso N
YD
Yu D
KC
Kim CH
SW
Su WC
SX
Shu XO
XP
Xu P
KI
Kim IS
CY
Chen YM
MH
Ma H
SM
Shen M
CS
Cha SI
TW
Tan W
CC
Chang CH
SJ
Sung JS
ZM
Zhang M
YT
Yang TY
PK
Park KH
YJ
Yuenger J
WC
Wang CL
RJ
Ryu JS
XY
Xiang Y
DQ
Deng Q
HA
Hutchinson A
KJ
Kim JS
CQ
Cai Q
LM
Landi MT
YC
Yu CJ
PJ
Park JY
TM
Tucker M
HJ
Hung JY
LC
Lin CC
PR
Perng RP
BP
Boffetta P
CC
Chen CY
CK
Chen KC
YS
Yang SY
HC
Hu CY
CC
Chang CK
FJ
Fraumeni JF
CS
Chanock S
YP
Yang PC
RN
Rothman N
LD
Lin D
Chapter II

Abstract

Summary of the research findings

Genome-wide association studies of lung cancer reported in populations of European background have identified three regions on chromosomes 5p15.33, 6p21.33, and 15q25 that have achieved genome-wide significance with p-values of 10(-7) or lower. These studies have been performed primarily in cigarette smokers, raising the possibility that the observed associations could be related to tobacco use, lung carcinogenesis, or both. Since most women in Asia do not smoke, we conducted a genome-wide association study of lung adenocarcinoma in never-smoking females (584 cases, 585 controls) among Han Chinese in Taiwan and found that the most significant association was for rs2736100 on chromosome 5p15.33 (p = 1.30 x 10(-11)). This finding was independently replicated in seven studies from East Asia totaling 1,164 lung adenocarcinomas and 1,736 controls (p = 5.38 x 10(-11)). A pooled analysis achieved genome-wide significance for rs2736100. This SNP marker localizes to the CLPTM1L-TERT locus on chromosome 5p15.33 (p = 2.60 x 10(-20), allelic risk = 1.54, 95% Confidence Interval (CI) 1.41-1.68). Risks for heterozygote and homozygote carriers of the minor allele were 1.62 (95% CI; 1.40-1.87), and 2.35 (95% CI: 1.95-2.83), respectively. In summary, our results show that genetic variation in the CLPTM1L-TERT locus of chromosome 5p15.33 is directly associated with the risk of lung cancer, most notably adenocarcinoma.

584 East Asian ancestry cases, 585 East Asian ancestry controls

Chapter III

Study Statistics

Key metrics and study information

5868
Total Participants
GWAS
Study Type
Yes
Replicated
2,184 East Asian ancestry cases, 2,515 East Asian ancestry controls
Replication Participants
East Asian
Ancestry
Republic of Korea, China
Recruitment Country
Chapter IV

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