The objective of this study was to identify whether the miR-502-binding site single nucleotide polymorphism (SNP) in the 3 0 -untranslated region (3 0 -UTR) of set domain-containing protein 8 (SET8) and the tumor protein p53 (TP53) codon 72 polymorphism were associated with the risk for non-small cell lung cancer (NSCLC), either independently or jointly, among Chinese people from southern Han. The genotypes of SET8 and TP53 codon 72 polymorphisms of peripheral blood DNA were detected using polymerase chain reaction-restriction fragment length polymorphism and direct DNA sequencing in a case -control study on 164 NSCLC cases and 199 controls. The SET8 TT (odds ratio, OR 5 2.173, 95% confidence interval, CI 5 1.0454.517) or TP53 GG (OR 5 2.579, 95% CI 5 1.366 -4.870) genotype was associated with an increased risk of NSCLC by comparing with the SET8 CC or TP53 CC genotype, respectively. Similar results were obtained in SET8 recessive model (OR 5 2.074, 95% CI 5 1.019 -4.221, P < 0.05), and the dominant and recessive model of TP53 codon 72 were performed, respectively (OR 5 1.809, 95% CI 5 1.159 -2.825, P < 0.05; OR 5 1.933, 95% CI 5 1.096 -3.409, P < 0.05). In addition, interaction between the SET8 and TP53 polymorphisms increased the risk of NSCLC in a multiply manner, with the OR being 3.032 (95%CI 5 1.580 -5.816) for subjects carrying both SET8 TT and TP53 GG genotypes. Therefore, the miR-502-binding site SNP in the 3 0 -UTR of SET8 and the TP53 codon 72 polymorphism may be markers of genetic susceptibility to NSCLC in Chinese population, and there is a possible gene-gene interaction in the incidence of NSCLC.
Objective: This study was conducted to identify whether polymorphic variants of set domain-containing protein 8 (SET8) and tumor protein p53 (TP53) codon 72, either independently or jointly, might be associated with increased risk for cervical cancer. Methods: We genotyped SET8 and TP53 codon 72 polymorphisms of peripheral blood DNA from 114 cervical cancer patients and 200 controls using the polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) and direct DNA sequencing. Results: The frequency of SET8 CC (odds ratios (OR) = 2.717, 95% CI=1.436-5.141) or TP53 GG (OR=2.168, 95% CI=1.149-4.089) genotype was associated with an increased risk of cervical cancer on comparison with the SET8 TT or TP53 CC genotypes, respectively. In additional, interaction between the SET8 and TP53 polymorphisms increased the risk of cervical cancer in a synergistic manner, with the OR being 9.913 (95% CI=2.028-48.459) for subjects carrying both SET8 CC and TP53 GG genotypes. Conclusion: These data suggest that there are significant associations between the miR-502-binding site SNP in the 3'-UTR of SET8 and the TP53 codon 72 polymorphism with cervical cancer in Chinese, and there is a gene-gene interaction.
Abstract. As a member of the p53 gene family, the p73 gene can affect an individual's susceptibility to cancer through a p53-like manner. DNA sequence variation in the p73 gene has been reported to be associated with cancer risk. The present study aimed to identify whether the p73 gene G4C14-to-A4T14 single nucleotide polymorphism (SNP) is associated with risk of cervical cancer in a Chinese population. The p73 G4C14-to-A4T14 polymorphism was genotyped in 175 cervical cancer and 189 healthy control peripheral blood DNA samples using high resolution melting, polymerase chain reaction with confronting two-pair primers and direct DNA sequencing. The results demonstrated that carriers of the AT/AT genotype were associated with a significantly increased risk of cervical cancer (P=0.042; χ 2 =4.122; odds ratio = 2.241; 95% confidence interval = 1.013-4.956) compared with the GC/GC genotype carriers. In addition, there was a significant association between p73 genotypes and tumor size in patients with cervical cancer (P=0.014; χ 2 =8.607). However, no association was identified between p73 genotypes and tumor stage, histological type or lymph node metastasis in patients with cervical cancer. These results suggest that the p73 G4C14-to-A4T14 SNP may function as a marker of genetic susceptibility to cervical cancer in the Chinese population.
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