XRCC1 rs25487 locus genetic polymorphisms and susceptibility to nonobstructive azoospermia in Hui minority ethnic population of Shaanxi province / 西安交通大学学报(医学版)

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.

Studying on BER pathways ofXRCC1 site SNP and laryngeal cancer susceptibility of different nations in Xinjiang / 中国癌症杂志

Background and purpose:Major repair genes that affect the tumor genetic susceptibility exists in repair pathways base excision repair (BER) approach, X-ray repair cross complementing group 1(XRCC1) gene, respectively is the core of BER pathway. At home and abroad in recent years, has carried out many studies of genetic polymorphism and laryngeal cancer susceptibility. Researching on the base excision repair (BER) pathway of DNA repair geneXRCC1 bases mononuclear nucleotide polymorphism and the relationship between different ethnic groups laryngeal cancer susceptibility in xinjiang.Methods:A case-control study was performed on 58 patient with laryngeal squamous cell carcinoma and 120 random healthy control group. Multiplex SNaPshot technic was used to detect DNA base excision repair geneXRCC1 Gln632Gln (rs3547), Arg399Gln (rs25487), Arg280His (rs25489), Arg194Trp (rs1799782) loci single nucleotide polymorphism distribution in the case group and normal control group.Results:Three sites of the rest of the cases ofXRCC1 Gln632Gln (rs3547) C/T (hybrid) and T/T (mutant) genotype, Arg399Gln (rs25487) C/T (hybrid) and T/T (mutant) genotype, Arg194Trp (rs1799782) G/A (hybrid) and A/A (mutant) genotype is notably higher than that of control group (P<0.01). Gln632Gln (rs3547) C/T (hybrid) and T/T (mutant) genotype, Arg399Gln (rs25487) C/T (hybrid) and T/T (mutant) genotype, Arg194Trp (rs1799782) G/A (hybrid) and A/A (mutant) genotype ratio is signiifcantly higher than control group (P<0.05) in cases of Han,Uygur and Kazakh nations, carrying (rs3547) C/T and T/T genotype, (rs25487) C/T and T/T genotype, (rs1799782) G/A and A/A genotype individual risk of laryngeal squamous cell carcinoma are added to the 0.96, 1.74 and 1.39 times; 1.47, 1.32 and 0.77 times; 1.49, 1.51 and 1.56 times thanXRCC1 (rs3547) C/C genotype, (rs25487) C/C genotype, (rs1799782) G/G genotype.Conclusion:In the 3 nations,XRCC1 Gln632Gln, Arg399Gln, Arg280His and Arg194Trp loci polymorphism may be associated with laryngeal cancer genetic and there are differences,XRCC1 Gln632Gln, Arg399Gln, Arg194Trp locus mutation will lead to an elevated risk of throat cancer.XRCC1 Arg280His locus mutation has no statistically signiifcant difference with the onset of throat cancer, may have nothing to do with the onset of laryngeal cancer on the site of mutation.

Association between Arg399Gln polymorphysim of XRCC1 gene and sensitivity to platinum-based chemotherapy in advanced gastric cancer: A meta-analysis / 肿瘤

Objective: To quantitatively evaluate the association between Arg399Gln polymorphysim of X-ray repair cross-complementing group 1 (XRCC1) gene and sensitivity to platinum-based chemotherapy in advanced gastric cancer. Methods: The relevant published studies were retrieved from PubMed, EMBASE, Cochrane Library, China National Knowledge Infrastructure, Chinese Biomedical Literature Data, Chinese Science and Technology Periodicals Data and WanFang databases with computer. Clinical response [complete response (CR) + partial response (PR)] was employed to estimate chemosensitivity. Odds ratio (OR) and its 95% confidence interval (CI) were calculated. The statistical analysis was conducted by the RevMan 5.2 and STATA 12.0 softwares. Results: A total of 1 068 cases from 8 trials were included in the analysis. The results of Meta-analysis showed no statistical significance between XRCC1 Arg399Gln polymorphism and clinical response among all genotypes (GA vs GG: OR = 0.71, 95% CI: 0.50-1.01; AA vs GG: OR = 0.76. 95% CI: 0.43-1.36; GA+GG vs AA: OR = 1.08, 95% CI: 0.63-1.86; GA+AA vs GG: OR = 0.67, 95% CI: 0.43-1.05) as well as in subgroup of Asian people (GA+GG vs AA: OR = 0.64, 95% CI: 0.35-1.16). After the sensiticity analysis based on different detection methods, the result revealed that there was a significant difference between genotype GA+AA vs GG (OR = 0.58, 95% CI: 0.40-0.86), especially in subgroup of Asian people (GA+AA vs GG: OR = 0.53, 95% CI: 0.37-0.75). Conclusion: In this Meta-analysis, polymorphism of XRCC1 Arg399Gln may be associated with low sensitivity to platinum-based chemotherapy in gastric cancer. Copyright© 2014 by TUMOR.

Deoxyribonucleic acid repair gene X-ray repair cross-complementing group 1 polymorphisms and non-carcinogenic disease risk in different populations: A meta-analysis.

PURPOSE: This study aims to assess a meta‑analysis of the association of X‑ray repair cross‑complementing group 1 (XRCC1) polymorphisms with the risk of various non‑carcinogenic diseases in different population. MATERIALS AND METHODS: This meta‑analysis was performed by critically reviewing reveals 38 studies involving 10043 cases and 11037 controls. Among all the eligible studies, 14 focused on Arg194Trp polymorphism, 33 described the Arg399Gln and three articles investigated on Arg280His. Populations were divided into three different ethnic subgroups include Caucasians, Asians and other (Turkish and Iranian). RESULTS: Pooled results showed no correlation between Arg194Trp and non‑carcinogenic disease. There was only weak relation in the recessive (odds ratio [OR] =1.11, 95% confidence interval [CI]: 0.86‑1.44) model in Asian population and dominant (OR = 1.04, 95% CI: 0.66‑1.63) model of other populations. In Arg399Gln polymorphism, there was no relation with diseases of interest generally. In the pooled analysis, there were weak relation in the dominant (OR = 1.08, 95% CI: 0.86‑1.35) model of Asian population and quite well‑correlation with recessive (OR = 1.49, 95% CI: 1.19‑1.88), dominant (OR = 1.23, 95% CI: 0.94‑1.62), and additive (OR = 1.23, 95% CI: 0.94‑1.62) models of other subgroup. For Arg280His, there was a weak relation only in the dominant model (OR = 1.06, 95% CI: 0.74‑1.51). CONCLUSION: The present meta‑analysis correspondingly shows that Arg399Gln variant to be associated with increased non‑carcinogenic diseases risk through dominant and recessive modes among Iranian and Turkish population. It also suggests a trend of dominant and recessive effect of Arg280His variant in all population and its possible protective effect on non‑carcinogenic diseases.

Interaction between polymorphisms in NQO1C609T and XRCC1G28152Aand their correlation with smoking on gastric cancer / 中华流行病学杂志

Objective To investigate the relationship between polymorphism of NAD (P)H quinone oxidoreductase 1 (NQO1)and X-ray repair cross-complementing group 1 (XRCC1) and their correlation with smoking on the susceptibility to gastric cancer. Methods A 1:1 case-control study of 334 patients with primary gastric cancer, with non-cancer or alimentary inpatients as control group (matched for ages ± 5 years, sex and reqion) in Anhui province was conducted to analyze theNQO1C609T and XRCC1G28152A. Gene types by PCR-based restriction fragment length polymorphism techniques. Interaction index (γ) was calculated to determine the type of gene- environment interaction. Results The average age of 334 cases of gastric cancer patients was 57 years, with 65.3% of them were male. Smoking rate in the case group (55.09%) was significantly higher than in the control group (36.53%). The consequence showing that it carried the heterozygous variant (CT)or homozygous variant (TT) of NQO1 could enhance the risk of gastric cancer(OR= 1.507,3.050),but not the XRCC1G28152A gene polymorphism or the susceptibility to gastric cancer. At the same time,individuals that carrying XRCC1AG and NQO1TT could increase 2.789 times the incidence of gastric cancer than those who carrying the XRCC1AG or NQO1CC. The gastric cancer risk of XRCC1GG individuals that carrying NQO1TT was 4.448 times higher than those who carrying XRCC1GG or NQO1 CC. The positive interactions of NQO1 homozygous variant (TT) , XRCC1 homozygous variant (GG) and smoking were revealed in the occurrence rates of gastric cancer (OR=3.094,γ =2.070). Conclusion Our research findings showed that the significant interactions between genetic polymorphisms of NQO1, XRCC1 and smoking added the risk of gastric cancer, while genetic and environmental hazardous factors co-effecting the development of gastric cancer.