RESUMO
Nucleotide excision repair was a complex biochemical process that involved in the repair of many kinds of DNA damage. Previous study suggested that xeroderma pigmentosum group C (XPC) gene played an important role in the process of DNA damage repair. This study aimed to explore the influence of XPC gene polymorphism on the prognosis of patients with colorectal cancer (CRC) who were treated with capecitabine-related adjuvant chemotherapy. METHODS: A total of 158 patients with CRC who received surgical resection and capecitabine-based adjuvant chemotherapy were included in this study consecutively. Baseline clinical characteristics of patients were collected and analyzed. Additionally, peripheral blood specimens of the patients were collected for polymorphism analysis of XPC gene and mRNA expression of XPC, respectively. The association analysis between XPC polymorphism and prognosis and mRNA expression was performed. Cox regression analysis was used for multivariate adjustment. RESULTS: Prognostic data in the 158 patients with CRC who received capecitabine-based adjuvant chemotherapy was collected retrospectively. The median follow-up duration of the patients was 5.0 years (range: 0.25-7.5 years). The median DFS and OS of the 158 patients with CRC was 4.5 years and 5.7 years, respectively. XPC polymorphism analysis suggested that rs2228001 was of clinical significance. The prevalence of rs2228001 polymorphism among CRC patients was: TT genotype 86 cases (54.4%), TG genotype 60 cases (38.0%) and GG genotype 12 cases (7.6%), resulting in a minor allele frequency of 0.27, which was in accordance with Hardy-Weinberg equilibrium (P=0.733). TG and GG genotypes were merged in the subsequent analysis. The prognostic results exhibited that the median DFS of patients with TT genotype and TG / GG genotype was 4.5 and 5.7 years, respectively (c
RESUMO
ObjectiveTo study the relationship between polymorphism of genes XPA, XPC, XPD,XRCC1 and susceptibility to acute lymphoblastic leukemia (ALL) in a Chinese population.Methods Polymorphism were determined by a case-control study through matrix-assisted laser desorption/ionization tandem time-of-flight mass spectrometry method of Mass-ASSAY platform in 114 confirmed ALL cases and 169 age- and sex- matched controls, so as to compare the relationship between differert genotypes and ALL risk.ResultsMultivariate logistic regression analysis revealed that individuals carrying at least one 23G variant allele(AG/GG genotypes) had a significantly increased risk for ALL (adjusted OR 2.02; 95％ CI 1.08-3.78) compared with the wild-type genotype (23 AA), and evidence that positive interactions between the polymorphisms in XPC C499T and XPA A23G might occur.Furthermore, individuals with both putative risk genotypes had a significantly higher risk (adjusted OR 5.60; 95％ CI 1.57-19.90), compared with those with both wild-genotypes. By contrast, no significant association was observed between the XPD T751G, XRCC1 G399A, C194T pelymorphism and ALL risk.ConclusionsXPA A23G and XPC C499T polymorphism may contribute to the risk of developing ALL.There are significant combinations between XPC C499T and XPA A23G.