Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54.
We performed a genome-wide association study of esophageal squamous cell carcinoma (ESCC) by genotyping 1,077 individuals with ESCC and 1,733 control subjects of Chinese Han descent. We selected 18 promising SNPs for replication in an additional 7,673 cases of ESCC and 11,013 control subjects of Chinese Han descent and 303 cases of ESCC and 537 control subjects of Chinese Uygur-Kazakh descent. We identified two previously unknown susceptibility loci for ESCC: PLCE1 at 10q23 (P(Han combined for ESCC) = 7.46 x 10(-56), odds ratio (OR) = 1.43; P(Uygur-Kazakh for ESCC) = 5.70 x 10(-4), OR = 1.53) and C20orf54 at 20p13 (P(Han combined for ESCC) = 1.21 x 10(-11), OR = 0.86; P(Uygur-Kazakh for ESCC) = 7.88 x 10(-3), OR = 0.66). We also confirmed association in 2,766 cases of gastric cardia adenocarcinoma cases and the same 11,013 control subjects (PLCE1, P(Han for GCA) = 1.74 x 10(-39), OR = 1.55 and C20orf54, P(Han for GCA) = 3.02 x 10(-3), OR = 0.91). PLCE1 and C20orf54 have important biological implications for both ESCC and GCA. PLCE1 might regulate cell growth, differentiation, apoptosis and angiogenesis. C20orf54 is responsible for transporting riboflavin, and deficiency of riboflavin has been documented as a risk factor for ESCC and GCA.
Wang
Li-Dong
LD
Cancer Research Center, Xinxiang Medical University, Xinxiang, Henan, China. ldwang@xxmu.edu.cn
Zhou
Fu-You
FY
Li
Xue-Min
XM
Sun
Liang-Dan
LD
Song
Xin
X
Jin
Yan
Y
Li
Jiang-Man
JM
Kong
Guo-Qiang
GQ
Qi
Hong
H
Cui
Juan
J
Zhang
Lian-Qun
LQ
Yang
Jie-Zhi
JZ
Li
Ji-Lin
JL
Li
Xing-Chuan
XC
Ren
Jing-Li
JL
Liu
Zhi-Cai
ZC
Gao
Wen-Jun
WJ
Yuan
Ling
L
Wei
Wu
W
Zhang
Yan-Rui
YR
Wang
Wei-Peng
WP
Sheyhidin
Ilyar
I
Li
Feng
F
Chen
Bao-Ping
BP
Ren
Shu-Wei
SW
Liu
Bin
B
Li
Dan
D
Ku
Jian-Wei
JW
Fan
Zong-Min
ZM
Zhou
Sheng-Li
SL
Guo
Zhi-Gang
ZG
Zhao
Xue-Ke
XK
Liu
Na
N
Ai
Yong-Hong
YH
Shen
Fang-Fang
FF
Cui
Wen-Yan
WY
Song
Shuang
S
Guo
Tao
T
Huang
Jing
J
Yuan
Chao
C
Huang
Jia
J
Wu
Yue
Y
Yue
Wen-Bin
WB
Feng
Chang-Wei
CW
Li
Hong-Lei
HL
Wang
Yan
Y
Tian
Jin-Ya
JY
Lu
Yue
Y
Yuan
Yi
Y
Zhu
Wen-Liang
WL
Liu
Min
M
Fu
Wen-Jing
WJ
Yang
Xia
X
Wang
Han-Jing
HJ
Han
Suo-Li
SL
Chen
Jie
J
Han
Min
M
Wang
Hai-Yan
HY
Zhang
Peng
P
Li
Xiu-Min
XM
Dong
Jin-Cheng
JC
Xing
Guo-Lan
GL
Wang
Ran
R
Guo
Ming
M
Chang
Zhi-Wei
ZW
Liu
Hai-Lin
HL
Guo
Li
L
Yuan
Zhi-Qing
ZQ
Liu
Hai
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Lu
Qin
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Yang
Liu-Qin
LQ
Zhu
Fu-Guo
FG
Yang
Xiu-Feng
XF
Feng
Xiao-Shan
XS
Wang
Zhou
Z
Li
Yin
Y
Gao
She-Gan
SG
Qige
Qirenwang
Q
Bai
Long-Tang
LT
Yang
Wen-Jun
WJ
Lei
Guang-Yan
GY
Shen
Zhong-Ying
ZY
Chen
Long-Qi
LQ
Li
En-Min
EM
Xu
Li-Yan
LY
Wu
Zhi-Yong
ZY
Cao
Wei-Ke
WK
Wang
Jian-Po
JP
Bao
Zhi-Qin
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Chen
Ji-Li
JL
Ding
Guang-Cheng
GC
Zhuang
Xiang
X
Zhou
Ying-Fa
YF
Zheng
Hou-Feng
HF
Zhang
Zheng
Z
Zuo
Xian-Bo
XB
Dong
Zi-Ming
ZM
Fan
Dong-Mei
DM
He
Xin
X
Wang
Jin
J
Zhou
Qi
Q
Zhang
Qin-Xian
QX
Jiao
Xin-Ying
XY
Lian
Shi-Yong
SY
Ji
Ai-Fang
AF
Lu
Xiao-Mei
XM
Wang
Jin-Sheng
JS
Chang
Fu-Bao
FB
Lu
Chang-Dong
CD
Chen
Zhi-Guo
ZG
Miao
Jian-Jun
JJ
Fan
Zeng-Lin
ZL
Lin
Ruo-Bai
RB
Liu
Tai-Jiang
TJ
Wei
Jin-Chang
JC
Kong
Qing-Peng
QP
Lan
Yu
Y
Fan
Yu-Jing
YJ
Gao
Fu-Sheng
FS
Wang
Tian-Yun
TY
Xie
Dong
D
Chen
Shu-Qing
SQ
Yang
Wan-Cai
WC
Hong
Jun-Yan
JY
Wang
Liang
L
Qiu
Song-Liang
SL
Cai
Zhi-Ming
ZM
Zhang
Xue-Jun
XJ
D000368:Aged; D044466:Asian People / Q000235:genetics*; D002294:Carcinoma, Squamous Cell / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D002879:Chromosomes, Human, Pair 10; D002890:Chromosomes, Human, Pair 20; D004938:Esophageal Neoplasms / Q000208:ethnology / Q000235:genetics*; D005260:Female; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D008875:Middle Aged; D054801:Phosphoinositide Phospholipase C / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000502:physiology
D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C548553:SLC52A3 protein, human; D054801:Phosphoinositide Phospholipase C; C423320:phospholipase C epsilon