RGD Reference Report - Assoication of XRCC1 gene polymorphisms with risk of non-small cell lung cancer. - Rat Genome Database

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Assoication of XRCC1 gene polymorphisms with risk of non-small cell lung cancer.

Authors: Kang, S  Ma, Y  Liu, C  Cao, C  Hanbateer, C  Qi, J  Li, J  Wu, X 
Citation: Kang S, etal., Int J Clin Exp Pathol. 2015 Apr 1;8(4):4171-6. eCollection 2015.
RGD ID: 11538163
Pubmed: PMID:26097609   (View Abstract at PubMed)
PMCID: PMC4466996   (View Article at PubMed Central)

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. 210 NSCLC patients and 210 health control subjects were randomly selected from Huaihe Hospital between January 2012 and June 2014. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was taken to assess the genotyping of XRCC1 Arg194Trp, Arg280His and Arg399Gln. By multivariate logistic regression analysis, we found individuals carrying with Trp/Trp and Arg/Trp + Trp/Trp genotypes were associated with a significantly increased risk of NSCLC compared with Arg/Arg genotype, and the OR (95% CI) were 3.15 (1.32-8.09) and 1.52 (1.02-2.28), respectively. The potential association of Arg/Trp+ Trp/Trp genotype of XRCC1 Arg194Trp with the risk of NSCLC is more evidence in smokers, and the OR (95% CI) was 1.78 (1.01-3.24). In conclusion, we found that XRCC1 Arg194Trp polymorphism may be associated with NSCLC risk, especially in smokers.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
lung non-small cell carcinoma susceptibilityIAGP 11538163DNA:missense mutation:cds: p.R194W (human)RGD 
lung non-small cell carcinoma susceptibilityISOXRCC1 (Homo sapiens)11538163; 11538163DNA:missense mutation:cds: p.R194W (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Non-small cell lung carcinoma susceptibilityIAGP 11538163DNA:missense mutation:cds: p.R194W (human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Xrcc1  (X-ray repair cross complementing 1)

Genes (Mus musculus)
Xrcc1  (X-ray repair complementing defective repair in Chinese hamster cells 1)

Genes (Homo sapiens)
XRCC1  (X-ray repair cross complementing 1)


Additional Information