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

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

doi:10.5301/jbm.5000241

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

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

Risultato della ricerca: Contributo in rivista › Articolo in rivista

7 Citazioni (Scopus)

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.

Lingua originale	English
pagine (da-a)	0-0
Numero di pagine	1
Rivista	THE INTERNATIONAL JOURNAL OF BIOLOGICAL MARKERS
DOI	https://doi.org/10.5301/jbm.5000241
Stato di pubblicazione	Pubblicato - 2017

Keywords

xrcc1, gene, polymorphism

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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.",

keywords = "xrcc1, gene, polymorphism, xrcc1, gene, polymorphism",

author = "Concetta Santonocito and Margherita Scapaticci and Bojan Nedovic and Annicchiarico, {Eleonora B.} and Donatella Guarino and Emanuele Leoncini and Stefania Boccia and Antonio Gasbarrini and Capoluongo, {Ettore Domenico}",

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doi = "10.5301/jbm.5000241",

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journal = "THE INTERNATIONAL JOURNAL OF BIOLOGICAL MARKERS",

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T1 - XRCC1 Arg399Gln gene polymorphism and hepatocellular carcinoma risk in the Italian population

AU - Santonocito, Concetta

AU - Scapaticci, Margherita

AU - Nedovic, Bojan

AU - Annicchiarico, Eleonora B.

AU - Guarino, Donatella

AU - Leoncini, Emanuele

AU - Boccia, Stefania

AU - Gasbarrini, Antonio

AU - Capoluongo, Ettore Domenico

PY - 2017

Y1 - 2017

N2 - 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.

AB - 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.

KW - xrcc1, gene, polymorphism

UR - http://hdl.handle.net/10807/92880

U2 - 10.5301/jbm.5000241

DO - 10.5301/jbm.5000241

M3 - Article

SN - 0393-6155

SP - 0

EP - 0

JO - THE INTERNATIONAL JOURNAL OF BIOLOGICAL MARKERS

JF - THE INTERNATIONAL JOURNAL OF BIOLOGICAL MARKERS

ER -

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

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