Journal Article

Identification of a novel polymorphism Arg290Gln of esophageal cancer related gene 1 (<i>ECRG1</i>) 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

in Carcinogenesis

Volume 27, issue 4, pages 798-802
Published in print April 2006 | ISSN: 0143-3334
Published online November 2005 | e-ISSN: 1460-2180 | DOI: http://dx.doi.org/10.1093/carcin/bgi258
Identification of a novel polymorphism Arg290Gln of esophageal cancer related gene 1 (ECRG1) and its related risk to esophageal squamous cell carcinoma

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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.

Keywords: CI, confidence interval; ECRG1, esophageal cancer related gene 1; ESCC, esophageal squamous cell carcinoma; Miz-1, Myc-interacting Zn2+ finger protein-1; RFLP, restriction fragment length; OR, odds ratio; SSCP, single-strand conformational polymorphism; SNP, single nucleotide polymorphism

Journal Article.  4247 words.  Illustrated.

Subjects: Clinical Cytogenetics and Molecular Genetics

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