title: Identification of a novel polymorphism Arg290Gln of esophageal cancer related gene 1 (ECRG1) and its related risk to esophageal squamous cell carcinoma.
abstract: 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<or=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.
authors.affiliation: Department of Etiology and Carcinogenesis, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China.
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Li
authors.forename: Xuemei
authors.initials: X
authors.lastname: Zhang
authors.forename: Ge
authors.initials: G
authors.lastname: Huang
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Miao
authors.forename: Liping
authors.initials: L
authors.lastname: Guo
authors.forename: Dongxin
authors.initials: D
authors.lastname: Lin
authors.forename: Shih-Hsin
authors.initials: SH
authors.lastname: Lu
mesh_terms: D000328:Adult; D000368:Aged; D002294:Carcinoma, Squamous Cell / Q000209:etiology / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D004938:Esophageal Neoplasms / Q000209:etiology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011993:Recombinant Fusion Proteins / Q000235:genetics*; D012307:Risk Factors; D057057:Serine Proteases; D012907:Smoking / Q000009:adverse effects*
chemical_list: D008565:Membrane Proteins; D011993:Recombinant Fusion Proteins; C446704:TMPRSS11A protein, human; D057057:Serine Proteases