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Objective To investigate the relationship between the genotypes of XRCC1 gene C26304T , G27466A, G28152A and the efficacy and prognosis of hepatocellular carcinoma in Nantong area. Methods The Genomic DNA was extracted from 252 newly diagnosed liver cancer patients admitted to the Department of Interventional Radiology, Affiliated Hospital of Nantong University from January 1, 2018 to December 31, 2018, and relevant clinical data and abdominal enhanced CT/MRI data were collected. Genotyping was performed using Panel high-throughput data analysis. All patients received TACE treatment, and abdominal enhanced CT/MRI was reexamined 4-6 weeks after treatment, and the efficacy was evaluated according to the efficacy of RECIST solid tumor. Survival of participants was followed up by telephone after 15 months. The frequency distribution differences of different genotypes in the efficacy and prognosis of different TACE treatments were compared, and the strength of association between related genotypes and the efficacy and prognosis of HCC TACE was indicated by odds ratio (OR) and its 95% confidence interval (CI). Results 1. The efficacy of TACE was better in AG patients with XRCC1 G28152A heterozygous mutation (OR=0.294, 95%CI:0.053-0.987), while there was no significant difference between patients with homozygous AA and patients with wild-type GG (OR=1.334, 95%CI:0.123-8.545). There was no significant difference in the efficacy of TACE between C26304T and G27466A genotypes. 2. Compared with the patients with wild-type GG, patients with G28152A heterozygous mutation AG were more likely to survive for 15 months and had a better prognosis after TACE (OR=0.262, 95%CI:0.051-0.988), but there was no significant difference in survival time between patients with homozygous mutation AA and patients with wild-type GG (OR=2.180, 95％CI:0.312-12.743）.There was no significant difference in survival time between the genotypes of C26304T and G27466A. Conclusion The patients with liver cancer in Nantong who carried heterozygous mutation AG at G27466A site of XRCC1 gene had better curative effect and prognosis of TACE. SNPs at C26304T and G28152A sites had no significant correlation with curative effect and prognosis of TACE.
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OBJECTIVE:To investigate the correlation of XRCC1 rs25487 polymorphism with the occurrence of lung cancer. METHODS:A total of 208 patients with primary lung cancer of Han nationality in Northern Jiangsu selected from the Affiliated Hospital of Xuzhou Medical University during Sept. 2015-Jul. 2016 were included in lung cancer group. A total of 214 healthy volunteers of the hospital underwent physical examination were included in control group. PCR-RFLP was used to detect the genotypes at XRCC1 rs25487 locus,and Logistic regression model was used to evaluate the correlation of genotypes with the occurrence of lung cancer. RESULTS:There was no statistical significance in the distribution of age and gender between 2 groups (P＞0.05). The proportion of smoker in lung cancer group was significantly higher than control group,with statistical significance(P＜0.05). AA,AG and GG genotypes were detected at rs25487 locus of XRCC1 gene. The frequency of AA,AG and GG genotype were 43.5%,41.1%and 15.4% in control group and 28.8%,48.6% and 22.6% in lung cancer group,respectively. The frequencies of genotypes in 2 groups were in line with Hardy-Weinberg equilibrium(P＞0.05),but there was statistical significance in genotype distribution between 2 groups(P＜0.05). Compared with AA genotype,the risk of lung cancer in individuals carrying AG genotype increased by 2.265 fold [OR＝2.265,95%CI(1.299,3.950),P＝0.040;after corrected with gender,age and smoking history OR＝2.309,95%CI(1.274, 4.185),P＝0.006],with statistical significance. The risk of lung cancer in individuals carrying GG genotype increased by 1.310 fold [OR＝1.310,95%CI(0.771,2.228),P＝0.318;after corrected OR＝1.429,95%CI(0.811,2.518),P＝0.217],without statistical significance. CONCLUSIONS:rs25487 locus mutant heterozy-gosity of XRCC1 gene is risk factor of lung cancer in Han nationality from Northern Jiangsu,and smoking can increase the risk of lung cancer.
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Objective To explore the association between X-ray repair cross complementing group 1 (XRCC1)gene rs25487 locus polymorphisms and nonobstructive azoospermia in Hui minority ethic population of Shaanxi Province.Methods We used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)method for genotyping at XRCC1 gene rs25487 locus in 79 patients with nonobstructive azoospermia and 82 healthy male controls in Hui minority ethic population of Shaanxi Province.Then we analyzed the association be-tween XRCC1 gene rs25487 locus and nonobstructive azoospermia.Results Compared with GG genotype,GA, AA and GA + AA genotypes demonstrated a significantly increased risk for nonobstructive azoospermia (OR =2.286,95% CI 1.1 5 1-4.539;OR =2.202,95% CI 0.753-6.439;OR =2.271,95% CI 1.1 71-4.403),respec-tively.Meanwhile,the A allele frequency was significantly higher in azoospermic patients than in controls (OR =1.582,95% CI 1.005-2.492,P =0.047).Conclusion G→A in XRCC1 gene rs25487 locus is correlated with nonobstructive azoospermia in Hui minority ethic population of Shaanxi province.
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Objective To explore the relationship between FOLFOX Chemotherapy and GSTP1,XRCC1 gene polymorphism in patients with colorectal cancer.Methods 60 cases of colorectal cancer treated in Tumor hospital of Hunan Province from January to December 2014 were selected as the research object.Treat patients with modified FOLFOX regimen,determined the GSTP1 ,XRCC1 gene sequence polymorphism,and explored the relationship between the efficacy and the GSTP1 ,XRCC1 gene sequence polymorphism.Results The number of patients with complete remission and partial remission and the num-ber of patients with stable and progress were not related to the gender,age,tumor location,pathological differentiation,TNM staging of patients (χ2=0.222~1.8,P>0.05).Of all cases,the frequencies of GSTP1A/A,A/G and G/G genotype were 68.3%,23.3% and 8.3%,respectively.GSTP1 gene wild-type (A/A)patients were treated with less efficiency than the GSTP1 gene mutation type (A/G+G/G)patients (χ2=4.493,P=0.034).Of all cases,the frequencies of XRCC1 G/G,G/A and A/A genotype were 58.3%,36.7% and 5%,respectively.XRCC1 gene wild type (G/G)patients with effective rate was higher than that of mutant type (G/A+A/A)patients (χ2=4.691,P=0.030).Conclusion The study showed that GSTP1(A/A),XRCC1 (G/G)gene polymorphism may be associated with clinical response to FOLFOX chemotherapy in advanced colorectal cancer.
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Esophageal cancer (EC) is a common malignancy worldwide. The X-ray repair cross-complementing 1 gene (XRCC1) is one of the most important candidate genes for influencing susceptibility to EC. This study aimed to investigate the effect of XRCC1 genetic variants on susceptibility to EC. A total of 383 EC patients (males: 239, females: 144, mean age: 56.62) and 387 cancer-free controls (males: 251, females: 136, mean age: 58.23) were enrolled in this study. The c.910A>G genetic variant of the XRCC1 gene was determined by polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing methods. The allele and genotype frequencies indicated statistical differences between EC patients and cancer-free controls. The c.910A>G genetic variant was statistically associated with increased susceptibility to EC [GG vs AA: odds ratio (OR)=1.79, 95% confidence interval (CI)=1.12-2.86, P=0.014; GG vs AG/AA: OR=1.76, 95%CI=1.13-2.75, P=0.013; G vs A: OR=1.25, 95%CI=1.01-1.55, P=0.041]. The allele G and genotype GG could contribute to the increased susceptibility to EC. Our findings suggest that the c.910A>G genetic variant is associated with susceptibility to EC in the Chinese Han population, and might be used as a molecular marker for detecting susceptibility to EC.
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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.
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The X-ray repair cross-complementing Group1 (XRCC1) gene has been defined as essential in the base excision repair (BER) and single-strand break repair processes. This gene is highly polymorphic, and the most extensively studied genetic changes are in exon 6 (Arg194Trp) and in exon 10 (Arg399Gln). These changes, in conserved protein sites, may alter the base excision repair capacity, increasing the susceptibility to adverse health conditions, including cancer. In the present study, we estimated the frequencies of the XRCC1 gene polymorphisms Arg194Trp and Arg399Gln in healthy individuals and also in women at risk of breast cancer due to family history from Rio de Janeiro. The common genotypes in both positions (194 and 399) were the most frequent in this Brazilian sample. Although the 194Trp variant was overrepresented in women reporting familial cases of breast cancer, no statistically significant differences concerning genotype distribution or intragenic interactions were found between this group and the controls. Thus, in the population analyzed by us, variants Arg194Trp and Arg399Gln did not appear to have any impact on breast cancer susceptibility.
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Cancer is one of the gene diseases. The genome stability is closely associated with the occurrence of cancers. XRCC1 gene is one of the DNA repair genes. It participates in the repair process when the genome is injured. So it is considered important in maintaining the stability of the genome and in the prevention of tumor occurrence. This article introduced the characteristic of XRCC1 gene, the relationship between single nucleotide polymorphism of the gene and susceptibility to tumor, and the common methods used in the XRCC1 research.
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Purpose:The current study analyzed the polymorp hisms of DNA repair gene XRCC1 and relationship between genetic variations and s usceptibility to lung cancer Methods:A case-control study of 111 patients with lung cancer a nd 210 normal residents as controls was conducted to detect XRCC1 polymorphisms at Arg399Gln loci . Genotypes were analyzed by PCR-based restriction fragment le ngth polymorphism(RLFP) techniques. Results:XRCC1 codon 399 heterozygous genotype Arg/Gln might hav e weaker protection effect on squamous cell carcinoma and reduce the risk of lun g cancer on smokers. Homozygous genotype Gln/Gln of XRCC1 codon 399 might increa se the risk of lung cancer and have synergistic effect with smoking. Conclusions:The results demonstrated that genetic polymorphism of XRCC1 DNA repair gene might contribute to the susceptibility to lung cancer a nd have synergistic effect with smoking.