title: XRCC1 Arg399Gln gene polymorphism and hepatocellular carcinoma risk in the Italian population.
abstract: 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.
authors.affiliation: Laboratory of Clinical Molecular Biology, Department of Biochemistry & Clinical Biochemistry, Catholic University of the Sacred Heart, Rome - Italy.
authors.forename: Concetta
authors.initials: C
authors.lastname: Santonocito
authors.affiliation: Laboratory of Clinical Molecular Biology, Department of Biochemistry & Clinical Biochemistry, Catholic University of the Sacred Heart, Rome - Italy.
authors.forename: Margherita
authors.initials: M
authors.lastname: Scapaticci
authors.affiliation: Laboratory of Clinical Molecular Biology, Department of Biochemistry & Clinical Biochemistry, Catholic University of the Sacred Heart, Rome - Italy.
authors.forename: Bojan
authors.initials: B
authors.lastname: Nedovic
authors.affiliation: Department of Internal Medicine, A. Gemelli Teaching Hospital, Catholic University of the Sacred Heart, Rome - Italy.
authors.forename: Eleonora B
authors.initials: EB
authors.lastname: Annicchiarico
authors.affiliation: Laboratory of Clinical Molecular Biology, Department of Biochemistry & Clinical Biochemistry, Catholic University of the Sacred Heart, Rome - Italy.
authors.forename: Donatella
authors.initials: D
authors.lastname: Guarino
authors.affiliation: Hygiene Section, Institute of Public Health, Catholic University of the Sacred Heart, Rome - Italy.
authors.forename: Emanuele
authors.initials: E
authors.lastname: Leoncini
authors.affiliation: Hygiene Section, Institute of Public Health, Catholic University of the Sacred Heart, Rome - Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Boccia
authors.affiliation: Department of Internal Medicine, A. Gemelli Teaching Hospital, Catholic University of the Sacred Heart, Rome - Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Gasbarrini
authors.affiliation: Laboratory of Clinical Molecular Biology, Department of Biochemistry & Clinical Biochemistry, Catholic University of the Sacred Heart, Rome - Italy.
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D006528:Carcinoma, Hepatocellular / Q000235:genetics* / Q000473:pathology; D004260:DNA Repair / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007558:Italy; D053208:Kaplan-Meier Estimate; D008113:Liver Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D000076105:X-ray Repair Cross Complementing Protein 1 / Q000235:genetics*
chemical_list: D000076105:X-ray Repair Cross Complementing Protein 1; C000619371:XRCC1 protein, human