rs25489, XRCC1

N. diseases: 78
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE In this study, we have shown that three nsSNPs, which were predicted to have functional consequences (XRCC1-R399Q, XRCC3-T241M, XRCC1-R280H), were already found to be associated with cancer risk. 15159313 2004
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE These findings indicated that XRCC1 Arg280His polymorphism may play a role in cancer development. 22975644 2012
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE DNA repair genes is a key factor for cancer susceptibility, and we conducted a case-control study to investigate the association of XRCC1 codons 194 (Arg to Trp), 280 (Arg to His) and 399 (Arg to Gln) with risk of NSCLC. 26097609 2015
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE The analyses suggest that XRCC1 Arg194Trp, Arg280His polymorphisms may be biomarkers of cancer susceptibility and a single larger study with thousands of subjects and tissue-specific biochemical and biological characterization is warranted to further evaluate potential gene-to-gene and gene-to-environment interactions on XRCC1 polymorphisms and cancer risk. 16030121 2005
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE Our meta-analysis on 2861 cases (lung cancer patients) and 2783 controls from eight eligible studies in Chinese populations showed that for the XRCC1 Arg194Trp polymorphism, compared with the Arg/Arg homozygous genotype, the variant Arg/Trp and Trp/Trp genotypes combined was not associated with lung cancer risk (OR=1.06, 95% confidence interval [CI]=0.89-1.27) (Z=0.70, P=0.48), nor was Arg280His (OR=0.63, 95% CI=0.28-1.41) (Z=1.12, P=0.26); however, for the XRCC1 Arg399Gln polymorphism, the combination of variant Arg/Gln and Gln/Gln genotypes was borderline significantly associated with lung cancer risk (OR=1.16, 95% CI=1.00-1.36) (Z=1.90, P=0.06), compared with the Arg/Arg homozygous genotype. 19329222 2009
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.100 GeneticVariation BEFREE However, the XRCC1 Arg194Trp and Arg280His variants were each associated with a reduced risk of lung cancer among subjects in the highest quartile of pack-years of smoking compared with common allele homozygotes (ORs of 0.65 [95% CI = 0.46 to 0.93] and 0.56 [95% CI = 0.36 to 0.86], respectively). 15840879 2005
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.100 GeneticVariation BEFREE Both the XRCC1 Arg194Trp and Arg280His as well as the OGG1 Ser326Cys heterozygous genotypes were associated with a significantly reduced risk for lung cancer (OR=0.32, p=0.024; OR=0.25, p=0.028; OR=0.51, p=0.033, respectively). 17531525 2007
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Stratified analyses revealed a significantly decreased risk of lung cancer associated with the AG/AA genotype of Arg280His (AG+AA versus GG, OR=0.38, 95% CI=0.19-0.75, P=0.005) among never smokers, although there was no interaction between Arg280His and smoking. 17316890 2007
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE However, the XRCC1 Arg194Trp and Arg280His variants were each associated with a reduced risk of lung cancer among subjects in the highest quartile of pack-years of smoking compared with common allele homozygotes (ORs of 0.65 [95% CI = 0.46 to 0.93] and 0.56 [95% CI = 0.36 to 0.86], respectively). 15840879 2005
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Hence, we performed a meta-analysis to investigate the association between lung cancer risk and XRCC1 Arg399Gln (14,156 cases and 16,667 controls from 41 studies), Arg194Trp (7,426 cases and 9,603 controls from 23 studies), Arg280His (6,211 cases and 6,763 controls from 16 studies), -77T>C (2,487 cases and 2,576 controls from 5 studies), and XRCC3 T241M (8,560 cases and 11,557 controls from 19 studies) in different inheritance models. 23990873 2013
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE Stratified analyses revealed a significantly decreased risk of lung cancer associated with the AG/AA genotype of Arg280His (AG+AA versus GG, OR=0.38, 95% CI=0.19-0.75, P=0.005) among never smokers, although there was no interaction between Arg280His and smoking. 17316890 2007
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE However, the XRCC1 Arg194Trp and Arg280His variants were each associated with a reduced risk of lung cancer among subjects in the highest quartile of pack-years of smoking compared with common allele homozygotes (ORs of 0.65 [95% CI = 0.46 to 0.93] and 0.56 [95% CI = 0.36 to 0.86], respectively). 15840879 2005
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE More rigorous association studies are needed to verify the involvement of XRCC1 Arg280His polymorphism in HCC susceptibility. 22919255 2012
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE Further, XRCC1 Arg280His variant though dormant individually, may also contribute to the development of cancer in combination with XPD Arg751Gln. 21945240 2012
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE Despite accumulating evidence of an important role that XRCC1 plays in maintaining genomic stability, the relationship between one of its most predominant variants, R280H (rs25489), and cancer prevalence remains ambiguous. 26011397 2015
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.100 GeneticVariation BEFREE Our meta-analysis on 2861 cases (lung cancer patients) and 2783 controls from eight eligible studies in Chinese populations showed that for the XRCC1 Arg194Trp polymorphism, compared with the Arg/Arg homozygous genotype, the variant Arg/Trp and Trp/Trp genotypes combined was not associated with lung cancer risk (OR=1.06, 95% confidence interval [CI]=0.89-1.27) (Z=0.70, P=0.48), nor was Arg280His (OR=0.63, 95% CI=0.28-1.41) (Z=1.12, P=0.26); however, for the XRCC1 Arg399Gln polymorphism, the combination of variant Arg/Gln and Gln/Gln genotypes was borderline significantly associated with lung cancer risk (OR=1.16, 95% CI=1.00-1.36) (Z=1.90, P=0.06), compared with the Arg/Arg homozygous genotype. 19329222 2009
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Among the four polymorphisms that were previously studied, only rs25489 of XRCC1 was significantly associated with lung cancer risk (dominant model, adjusted odds ratio = 0.61, 95% confidence interval = 0.46-0.83, P = 0.002). 25592768 2015
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Despite accumulating evidence of an important role that XRCC1 plays in maintaining genomic stability, the relationship between one of its most predominant variants, R280H (rs25489), and cancer prevalence remains ambiguous. 26011397 2015
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE Polymorphisms of the DNA repair gene X-ray repair cross-complementing protein 1 (XRCC1) Arg194Trp, Arg280His, and Arg399Gln have been shown to alter the DNA repair activity and to be associated with genetic susceptibility to several types of cancer. 23425027 2013
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Our meta-analysis on 2861 cases (lung cancer patients) and 2783 controls from eight eligible studies in Chinese populations showed that for the XRCC1 Arg194Trp polymorphism, compared with the Arg/Arg homozygous genotype, the variant Arg/Trp and Trp/Trp genotypes combined was not associated with lung cancer risk (OR=1.06, 95% confidence interval [CI]=0.89-1.27) (Z=0.70, P=0.48), nor was Arg280His (OR=0.63, 95% CI=0.28-1.41) (Z=1.12, P=0.26); however, for the XRCC1 Arg399Gln polymorphism, the combination of variant Arg/Gln and Gln/Gln genotypes was borderline significantly associated with lung cancer risk (OR=1.16, 95% CI=1.00-1.36) (Z=1.90, P=0.06), compared with the Arg/Arg homozygous genotype. 19329222 2009
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE Among the four polymorphisms that were previously studied, only rs25489 of XRCC1 was significantly associated with lung cancer risk (dominant model, adjusted odds ratio = 0.61, 95% confidence interval = 0.46-0.83, P = 0.002). 25592768 2015
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE No associations were found between the polymorphisms OGG1 Ser326Cys, XRCC1 Arg280His, and XRCCI Arg399Gln and risk of lung cancer. 15587988 2004
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE In addition, the rs25489 and rs1799782 polymorphisms were associated with increased risk of HCC. 31478224 2020
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Further, XRCC1 Arg280His variant though dormant individually, may also contribute to the development of cancer in combination with XPD Arg751Gln. 21945240 2012
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE In overall analyses, the minor alleles of four variants, Arg280His (odds ratio, 95% confidence interval, P: 1.37, 1.13-1.66, 0.001), Thr241Met (1.93, 1.17-3.20, 0.011), Asp312Asn (1.22, 1.08-1.38, 0.001) and Lys751Gln (1.42, 1.02-1.97, 0.038), were associated with the significant risk for hepatocellular carcinoma. 27306318 2016