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.

Polymorphism Arg290Arg in Esophageal-Cancer-Related Gene 1 (ECRG1) is a Prognostic Factor for Survival in Esophageal Cancer

“…In association with smoking, the presence of this genotype Arg290Gln was a significant factor for development of squamous cell carcinoma. 16 No data of impact on survival was provided in this trial. This study is the first to analyze the impact of DNA polymorphism of ECRG1 on prognosis of the patients so no comparable results are available.…”

“…A radical lymphadenectomy was performed in all patients. The median numbers of resected lymph nodes was 31 in the transthoracic group and 25 (15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34) in the transhiatal group. The distribution of the number of resected lymph nodes and operative approach were comparable concerning the different alleles and had no significant influence on survival.…”

“…Screening the coding region of ECRG1 for single nucleotide polymorphisms, a variant allele in exon 8 resulting in expression of glutamine or arginine in codon 290 was identified by PCR-based SSCP and DNA sequencing. 15,16 The aim of this study was to reveal the impact of these DNA polymorphisms in the coding region of ECRG1 for the prognosis after complete surgical resection of esophageal cancer.…”

<b><i>ECRG1</i></b> and Its Relationship with Esophageal Cancer: A Brief Review

“…A study by Li et al [21], carried out to evaluate the role of ECRG1 polymorphism in causing esophageal cancer in China, included 998 ESCC patients and 1252 normal subjects, in a hospital-based case control study. It showed a statistically significantly increased risk of ESCC associated with the ECRG1 290Arg/Gln and 290Gln/Gln genotypes compared with the 290Arg/Arg genotype (odds ratio (OR) 1.23, 95% confidence interval (CI) 1.03-1.46; p < 0.05).…”

Disseminated Eruptive Giant Mollusca Contagiosa in an Adult Psoriasis Patient during Efalizumab Therapy

“…While MC lesions in childhood normally measure 1–4 mm, giant-shaped MC of more than 5 mm in diameter can be found in HIV-positive patients and patients under immunosuppressive therapy [7]. Although case reports provide only little evidence in general, they may prove necessary to raise the awareness of unanticipated adverse events in this new class of psoriasis drugs.…”