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



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.


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.


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.


To our knowledge, this is the first study reporting an association between BER SNP and HCC risk in a population of central-southern Italy.

Int J Biol Markers 2017; 32(2): e190 - e194




Concetta Santonocito, Margherita Scapaticci, Bojan Nedovic, Eleonora B. Annicchiarico, Donatella Guarino, Emanuele Leoncini, Stefania Boccia, Antonio Gasbarrini, Ettore Capoluongo

Article History


Financial support: Funding for this study was received from the Erasmus Mundus Western Balkans Fellowship (to B.N.).
Conflict of interest: The authors declare they have no conflict of interest.

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  • Laboratory of Clinical Molecular Biology, Department of Biochemistry & Clinical Biochemistry, Catholic University of the Sacred Heart, Rome - Italy
  • Department of Internal Medicine, A. Gemelli Teaching Hospital, Catholic University of the Sacred Heart, Rome - Italy
  • Hygiene Section, Institute of Public Health, Catholic University of the Sacred Heart, Rome - Italy

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