PD-L1 expression and its clinicopathological correlation in advanced esophageal squamous cell carcinoma in a Chinese population

Background The tumor protein 53 (TP53 or p53) plays an important role in tumor suppression by binding to the regulatory region of its target genes. Single nucleotide polymorphisms (SNP) located in the p53 binding regions are likely to affect the expression of p53 target genes and may contribute to susceptibility to common diseases. The role of the genetic variations in esophageal squamous cell carcinoma (ESCC) has been well explored. However, the role of p53 binding region variations in esophageal cancer is poorly understood. Methods We investigated the association of 6 p53 binding region polymorphisms with susceptibility of 400 ESCC cases and 400 cancer-free controls in a Southwest Chinese population using the SNapShot assay. Differences in frequencies of the SPNs genotypes between cases and controls were evaluated using the chi-square test. Results We found that the C allele of rs1009316 in Bax and rs762624 in CDKN1A can decrease the risk of ESCC. In the multiple genetic model, we found that the rs2395655 in CDKN1A is related with the risk of ESCC, and that the G allele increases the susceptibility to ESCC (OR: 1.364; 95% CI: 1.104-1.685). We carried out a stratification analysis between alleles and risk of ESCC according to clinical stage. There was no relationship between these SNPs and clinical stage. Conclusion SNPs in the p53 binding region may modulate the risk of ESCC in the Southwest Chinese population.

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Association of Polymorphisms in X-Ray Repair Cross Complementing 1 Gene and Risk of Esophageal Squamous Cell Carcinoma in a Chinese Population

BioMed Research International ◽

10.1155/2015/509215 ◽

2015 ◽

Vol 2015 ◽

pp. 1-7

Author(s):

Yu-Xia Yun ◽

Li-Ping Dai ◽

Peng Wang ◽

Kai-Juan Wang ◽

Jian-Ying Zhang ◽

...

Keyword(s):

Squamous Cell Carcinoma ◽

Esophageal Squamous Cell Carcinoma ◽

Cell Carcinoma ◽

Squamous Cell ◽

Chinese Population ◽

Haplotype Analysis ◽

Chinese Han Population ◽

Chinese Han ◽

Han Population ◽

X Ray

Objectives. To investigate the association between three single nucleotide polymorphisms (SNPs) in the X-ray repair cross complementing 1 gene (XRCC1) and the risk of esophageal squamous cell carcinoma (ESCC) in Chinese population.Methods. A case-control study including 381 primary ESCC patients recruited from hospital and 432 normal controls matched with patients by age and gender from Chinese Han population was conducted. The genotypes of threeXRCC1polymorphisms at −77T>C (T-77C), codon 194 (Arg194Trp), and codon 399 (Arg399Gln) were studied by means of polymerase chain reaction-restriction fragment length polymorphism techniques (PCR-RFLP). Unconditional logistic regression model and haplotype analysis were used to estimate associations of these three SNPs inXRCC1gene with ESCC risk.Results. Polymorphisms at these three sites inXRCC1gene were not found to be associated with risk for developing ESCC; however the haplotypeCcodon 194Gcodon 399C-77T>Cwas significantly associated with reduced risk of ESCC (OR: 0.62, 95% CI: 0.40–0.96) upon haplotype analysis.Conclusion. These results suggested that the gene-gene interactions might play vital roles in the progression on esophageal cancer in Chinese Han population and it would be necessary to confirm these findings in a large and multiethnic population.

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