E-cadherin (CDH1) is a tumor suppressor involved in epithelial cell-cell interactions. Single nucleotide polymorphisms (SNP) in the CDH1 gene, -160C/A and -347G/GA in the 5'-promoter region and +54C/T in the 3'-untranslated region (UTR) have been shown to be associated with tumor development and progression via modifying transcriptional activity, mRNA stability or protein expression. To investigate the influence of CDH1 SNP on susceptibility to esophageal squamous cell carcinomas (ESCC) and gastric cardia adenocarcinomas (GCA), a case-control study was conducted among 333 ESCC patients, 239 GCA patients and 343 controls from a northern Chinese population. CDH1 polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis. The results showed that; (i) genotypes with the +54C allele (C/C or C/T) significantly increased the risk of developing both ESCC and GCA compared to the +54T/T genotype (age and gender adjusted odds ratio [OR] = 1.45 and 2.28, 95% confidence interval [CI] = 1.06-1.99 and 1.58-3.30, respectively), and this association was significant only among non-smokers (OR = 1.68 and 2.64, 95% CI = 1.01-2.80 and 1.43-4.87 for ESCC and GCA, respectively), and individuals without a family history of upper gastrointestinal cancer (OR = 2.63 and 2.97, 95% CI = 1.36-5.10 and 95% CI = 1.32-6.68 for ESCC and GCA, respectively); (ii) compared with the -347G/G genotype, the -347GA and GA/GA genotypes significantly increased the risk of developing GCA (OR = 1.45, 95 % CI = 1.03-2.04); (iii) there was a significant association of CDH1-160C/-347G/+54C and -160C/-347GA/+54C haplotypes with the development of GCA, compared with the -160C/-347G/+54T haplotype (OR = 1.80 and 2.21, 95% CI = 1.33-2.44 and 1.43-3.42, respectively); and (iv) the influence of CDH1 SNP on the depth of tumor invasion and lymphatic metastasis in ESCC and GCA patients was not observed in this study. The present study indicates that CDH1 polymorphisms might modify susceptibility to ESCC and/or GCA.
P73, a p53 homolog, has some p53-like activities and plays an important role in modulating cell cycle, apoptosis and DNA repair. The two linked polymorphisms in the non-coding region of exon2 of p73 gene, named G4C14-A4T14, may alter translation efficiency of the gene. The transcription of p73 gene is initiated by three promoters, termed P1-P3. There is a single nucleotide substitution (-386G/A) in the P3 promoter region with unknown function. To test the hypothesis that the genetic variations in the exon2 and P3 promoter play a role in the etiology of esophageal squamous cell carcinoma (ESCC), we conducted a population-based case-control study in 348 ESCC patients and 583 healthy controls from a high incidence region of Hebei province, China. The p73 polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP). The results showed that the family history of upper gastrointestinal cancer (UGIC) significantly increased the risk of developing ESCC (the age, sex and smoking status adjusted OR = 2.02, 95% CI = 1.54-2.67). The overall distribution of the p73 genotype, allelotype and haplotype in cancer patients and controls were not significantly different (all P-values are above 0.05). Stratification analysis by smoking status and family history of UGIC also did not show the significant influence of the polymorphisms on the risk of ESCC development. The results suggested that the p73 exon2 G4C14-A4T14 and P3 promoter -386G/A polymorphisms might not be used as potential markers to predicate the risk of ESCC development in northern China.
ABSTRACT. An A/G polymorphism (rs3746444) has been identified in the miR-499 gene that can change the conformation of the secondary gene structure and thereby directly affect binding to target mRNAs and the microRNA (miRNA) maturation process, thus altering protein expression and potentially contributing to cancer susceptibility. Numerous studies investigating the association between the rs3746444 polymorphism and cancers have been published; however, results are inconsistent and inconclusive. To clarify the relationship between the miR-499 rs3746444 polymorphism and cancer, we conducted a comprehensive meta-analysis on 14 case-control studies comprising 7189 cases and 8577 controls. Odds ratios (OR) and 95% confidence intervals (CI) were calculated by using dominant, recessive, and co-dominant genetic models. A publication bias test and subgroup analysis were also performed. Results showed that the G allele was associated with a significantly increased cancer risk compared to the A allele (OR = 1.09; 95%CI = 1.00-1.18). Similarly, moderately elevated risks were also observed in overall analyses in the dominant model (OR = 1.13; 95%CI = 1.01-1.26). Moreover, significantly increased risks were observed in Asian populations (G allele vs A allele: OR = 1.18; 95%CI = 1.01-1.37; GG vs AA: OR = 1.36; 95%CI = 1.07-1.73; dominant model: OR = 1.19; 95%CI = 1.00-1.41; recessive model: OR = 1.31; 95%CI = 1.03-1.66), but not in European populations. These findings indicate that the miR-499 rs3746444 polymorphism is associated with an increased cancer risk.
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