RGD Reference Report - XRCC1 Arg399Gln gene polymorphism and hepatocellular carcinoma risk in the Italian population. - Rat Genome Database

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XRCC1 Arg399Gln gene polymorphism and hepatocellular carcinoma risk in the Italian population.

Authors: Santonocito, Concetta  Scapaticci, Margherita  Nedovic, Bojan  Annicchiarico, Eleonora B  Guarino, Donatella  Leoncini, Emanuele  Boccia, Stefania  Gasbarrini, Antonio  Capoluongo, Ettore 
Citation: Santonocito C, etal., Int J Biol Markers. 2017 May 4;32(2):e190-e194. doi: 10.5301/jbm.5000241.
RGD ID: 14696702
Pubmed: PMID:28058700   (View Abstract at PubMed)
DOI: DOI:10.5301/jbm.5000241   (Journal Full-text)


BACKGROUND: The human X-ray repair cross-complementing protein 1 (XRCC1) gene encodes for one of the major repair factors involved in base excision repair (BER), which is reported to be associated with the risk of several cancers. A few studies have explored the association between risk of hepatocellular carcinoma (HCC) and single-nucleotide polymorphisms (SNPs) in different DNA repair genes, with contradictory results. The purpose of this study was to evaluate the association between XRCC1 Arg399Gln polymorphism and susceptibility to HCC.
METHODS: A total of 89 HCC patients and 99 randomly selected healthy controls were enrolled. Genotyping of XRCC1 rs25487 was performed by high-resolution melting analysis and Sanger sequencing.
RESULTS: On univariate analysis, a statistically significant association was found between risk of HCC and XRCC1 399Arg/Gln genotype (odd ratio [OR] = 1.88; 95% CI, 1.04-3.43), which was confirmed after adjusting by sex (OR = 1.94; 95% CI, 1.04-3.63). Although not significant, Kaplan-Meier analysis showed a decreased median survival in Arg/Gln genotype carriers in comparison with Arg/Arg carriers.
CONCLUSIONS: To our knowledge, this is the first study reporting an association between BER SNP and HCC risk in a population of central-southern Italy.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
hepatocellular carcinoma susceptibilityIAGP 14696702DNA:missense mutation:cds:p.R399Q (rs25487) (human)RGD 
hepatocellular carcinoma susceptibilityISOXRCC1 (Homo sapiens)14696702; 14696702DNA:missense mutation:cds:p.R399Q (rs25487) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Hepatocellular carcinoma susceptibilityIAGP 14696702DNA:missense mutation:cds:p.R399Q (rs25487)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