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Carcinogenesis Advance Access originally published online on November 2, 2005
Carcinogenesis 2006 27(4):798-802; doi:10.1093/carcin/bgi258
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© The Author 2005. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Identification of a novel polymorphism Arg290Gln of esophageal cancer related gene 1 (ECRG1) and its related risk to esophageal squamous cell carcinoma

Yuanyuan Li, Xuemei Zhang, Ge Huang, Xiaoping Miao, Liping Guo, Dongxin Lin and Shih-Hsin Lu *

Department of Etiology and Carcinogenesis, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China

* To whom correspondence should be addressed. Fax: 86 10 67712368; Email: shlu{at}public.bta.net.cn

We previously cloned and identified the esophageal cancer related gene 1 (ECRG1), a novel candidate tumor suppressor gene, from human esophageal cells. A single nucleotide polymorphism (Arg290Gln) was identified in the coding region of ECRG1 and might play a role in susceptibility to esophageal squamous cell carcinoma (ESCC). To examine this hypothesis, we analyzed 998 ESCC patients and 1252 controls in a hospital-based, case–control study in a Chinese population for this polymorphism. We observed a statistically significantly increased risk of ESCC associated with the ECRG1 290Arg/Gln and 290Gln/Gln genotypes compared with the 290Arg/Arg [odds ratio (OR) = 1.23, 95% confidence interval (CI) =1.03–1.46; P < 0.05]. A greater than multiplicative joint effect between the ECRG1 polymorphism and tobacco smoking exposure was also observed (OR = 1.95, 95% CI = 1.48–2.56; P < 0.001). Furthermore, the elevated risk of ESCC associated with the ECRG1 polymorphism was increased consistently with cumulative smoking dose. ORs (95% CI) for 290Arg/Gln and 290Gln/Gln genotypes among non-smokers and smokers who smoked ≤27 and >27 pack-years were 1.03 (0.78–1.35), 1.91 (1.36–2.67) and 2.08 (1.48–2.92), respectively (P trend test < 0.001). Taken together, our results indicate that the ECRG1 290Gln variant allele might be a genetic susceptibility factor for developing ESCC, especially in the smoking population.


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W. Yueying, W. Jianbo, L. Hailin, T. Huaijing, G. Liping, and L. Shih-Hsin
ECRG1, a novel esophageal gene, cloned and identified from human esophagus and its inhibition effect on tumors
Carcinogenesis, January 1, 2008; 29(1): 157 - 160.
[Abstract] [Full Text] [PDF]



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