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XRCC1 Arg399Gln gene polymorphism and hepatocellular carcinoma risk in the Italian population
Concetta Santonocito1, Margherita Scapaticci1, Bojan Nedovic1
1Laboratory of Clinical Molecular Biology, Department of Biochemistry & Clinical Biochemistry, Catholic University of the Sacred Heart, Rome - Italy.
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.
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