XRCC1, X-ray repair cross complementing 1, 7515

N. diseases: 410; N. variants: 39
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2307184
rs2307184
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs3213250
rs3213250
Entrez Id: 7515;390940
Gene Symbol: XRCC1;PINLYP
XRCC1;PINLYP
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs754041352
rs754041352
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT
dbSNP: rs761564262
rs761564262
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C4539948
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26
0.700 GeneticVariation UNIPROT XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. 28002403 2017
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Our results suggest that menopausal age together with Arg194Trp and Arg399Gln XRCC1 gene polymorphisms might be involved in individual susceptibility to breast cancer. 17935911 2007
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.100 GeneticVariation BEFREE This meta-analysis aimed to summarize published data about the association between two SNPs of XRCC1 (Arg194Trp and Arg399Gln) and treatment outcomes of patients with advanced gastric cancer. 24465544 2014
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The purpose of this case-control study was to evaluate the association of XRCC1 Arg194Trp and Arg399Gln polymorphisms with susceptibility to breast cancer (BC) in a Mexican population. 25690738 2015
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0006826
Disease:
Malignant Neoplasms
0.100 GeneticVariation BEFREE Here, we have further studied the interactions between these two proteins, including two variants of XRCC1 (R194W and R280H) arising from single-nucleotide polymorphisms (SNPs) that have been associated with elevated cancer risk in some reports. 30446622 2019
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE In conclusion, APE1 (Asp148Glu), PARP1 (Ala762Val), and XRCC1 (Arg399Gln, Arg194Trp) were associated with the susceptibility to CRC, but were not associated with the prognosis of CRC. 23430444 2013
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0684249
Disease:
Carcinoma of lung
0.100 GeneticVariation BEFREE Conversely, individuals with the variant Arg194Trp allele who were alcohol drinkers seemed to be at lower risk for lung cancer compared with those with the homozygous wild-type genotype. 11219768 2001
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE Statistically significant association with breast cancer risk was observed for rs1130409 homozygous mutant GG [odds ratio (OR) 3.35, 95% confidence interval (CI) 1.36-8.26), heterozygous GT (OR 2.42, 95% CI 1.56-3.76), and combined mutant (GT + GG) (OR 2.52, 95% CI 1.65-3.86] genotypes and rs25487 homozygous mutant AA (OR 2.91, 95% CI 1.66-5.10) and combined mutant (AA + AG) (OR 1.41, 95% CI 0.903-2.19) genotypes, whereas protective association was exhibited by rs1799782 homozygous mutant CC (OR 0.413, 95% CI 0.082-2.08), heterozygous TC (OR 0.351, 95% CI 0.189-0.650), and combined mutant (TC + CC) (OR 0.357, 95% CI 0.199-0.641) genotypes. 18669164 2008
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0684249
Disease:
Carcinoma of lung
0.100 GeneticVariation BEFREE When stratified by source of control, we found a protective effect of codon 194 Arg/Trp genotype (OR: 0.87; 95 % CI 0.77-0.98) and risk effect of codon 399 combined Arg/Gln + Gln/Gln variant genotype (OR: 1.09; 95 % CI 1.01-1.18) for lung cancer on the basis of hospital control. 22729882 2012
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE The purpose of this case-control study was to evaluate the association of XRCC1 Arg194Trp and Arg399Gln polymorphisms with susceptibility to breast cancer (BC) in a Mexican population. 25690738 2015
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0699791
Disease:
Stomach Carcinoma
0.100 GeneticVariation BEFREE Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R399Q and OGG1-S326C), nucleotide excision repair (XPC-PAT, XPA-23G>A, ERCC1-19007T>C and XPD-L751Q), recombination (XRCC3-T241M) and alkylation damage reversal (MGMT-L84F) were tested for their potential role in the development of GC by using logistic regression models. 20817763 2010
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE In addition, the Arg194Trp</span> vari</span>ant reduced the risk of lung cancer associated with increased serum carotenoids compared to those with the homozygous wild-type allele. 12680158 2003
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE We performed a meta-analysis to investigate the role of XRCC1 polymorphisms Arg194Trp, Arg280His and Arg399Gln in breast cancer. 19446452 2009
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE To unravel its genetic underpinnings, we sought to investigate the association of three well-characterized nonsynonymous polymorphisms in XRCC1 (Arg194Trp and Arg399Gln) and XRCC3 (Thr241Met) genes with lung cancer risk in northeastern Chinese. 23409158 2013
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE Our results suggest that menopausal age together with Arg194Trp and Arg399Gln XRCC1 gene polymorphisms might be involved in individual susceptibility to breast cancer. 17935911 2007
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
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
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0684249
Disease:
Carcinoma of lung
0.100 GeneticVariation BEFREE Additionally, four polymorphisms of XRCC1 (rs25487, rs25489, rs1799782, and rs3213245), which were investigated with regard to their association with lung cancer risk in previous studies, were also genotyped. 25592768 2015
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0684249
Disease:
Carcinoma of lung
0.100 GeneticVariation BEFREE The associations between the OGG1 Cys/Cys genotype and adenocarcinoma risk and between XRCC1 Arg194Trp</span> polymorphism and lung cancer risk among heavy smokers remained robust given prior probabilities of 25% (FPRP = 0.238) and 10% (FPRP = 0.276), respectively. 15840879 2005
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.100 GeneticVariation BEFREE Our findings demonstrated that the genetic variant Arg280His in XRCC1 may contribute to cancer progression and that XRCC1 Arg194Trp variants may act as a favorable prognostic indicator of resected GC, particularly among the diffuse-type GC. 23425027 2013
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0017638
Disease:
Glioma
0.100 GeneticVariation BEFREE The results suggested that the XRCC1 Arg194Trp polymorphism is a genetic risk factor for glioma, especially in Asian population. 25227852 2014
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. 20183911 2010
dbSNP: rs1799782
rs1799782
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE To evaluate the role of this polymorphism as a risk factor for breast cancer in Kurdish patients and to investigate the possible association between Arg194Trp x-ray repair cross-complementing group 1 (XRCC1) gene polymorphisms with clinical and histopathological outcomes of patients with breast cancer. 27279507 2016