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.

Santonocito, C., Scapaticci, M., Nedovic, B., Annicchiarico, E. B., Guarino, D., Leoncini, E., Boccia, S., Gasbarrini, A., Capoluongo, E. D., XRCC1 Arg399Gln gene polymorphism and hepatocellular carcinoma risk in the Italian population, <<THE INTERNATIONAL JOURNAL OF BIOLOGICAL MARKERS>>, 2017; (jan): 0-0. [doi:10.5301/jbm.5000241] [http://hdl.handle.net/10807/92880]

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

Santonocito, Concetta;Boccia, Stefania;Gasbarrini, Antonio
Penultimo
;
Capoluongo, Ettore Domenico
Ultimo
2017

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.
Inglese
Santonocito, C., Scapaticci, M., Nedovic, B., Annicchiarico, E. B., Guarino, D., Leoncini, E., Boccia, S., Gasbarrini, A., Capoluongo, E. D., XRCC1 Arg399Gln gene polymorphism and hepatocellular carcinoma risk in the Italian population, <<THE INTERNATIONAL JOURNAL OF BIOLOGICAL MARKERS>>, 2017; (jan): 0-0. [doi:10.5301/jbm.5000241] [http://hdl.handle.net/10807/92880]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/92880
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