Polymorphisms in the DNA repair gene XRCC1 and susceptibility to alcoholic liver cirrhosis in older Southeastern Brazilians

Rossit, Andréa Regina Baptista; Cabral, Isabel Rosa; Hackel, Christine; Silva, Rita de Cássia M.A. da; Froes, Nı́vea D.T.Conforti; Abdel‐Rahman, Sherif Z.

doi:10.1016/s0304-3835(02)00029-0

Cited by 39 publications

(31 citation statements)

References 31 publications

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“…13,38 These intermediates may generate DNA base lesions, which should be removed by the base excision repair pathway. XRCC1 may be involved in the base excision repair of alcohol-induced DNA damage, therefore, those with a reduced repair capacity due to XRCC1 polymorphisms could be more susceptible to the development of colorectal cancer.…”

Section: Discussionmentioning

confidence: 99%

“…Alcohol consumption per se may interfere with the repair of damaged DNA. 13 Therefore, alcohol intake and XRCC1 polymorphisms may inhibit DNA repair in concert and thus promote colorectal cancer development. The frequencies of 194Trp-280His-399Arg, 194Trp-280Arg-399Gln, 194Arg-280His-399Gln, 194Trp-280His-399Gln were zero in both groups.-2 Adjusted ORs were derived after controlling for alcohol intake frequency, smoking, dietary habit and exercise.…”

Section: Discussionmentioning

confidence: 99%

“…11,12 Alcohol consumption has been associated with the production of reactive oxygen species, which are known to cause DNA lesions that can be removed by the DNA base-excision repair pathway. 13 Meta-analyses of alcohol consumption in relation to colorectal cancer have reported a small or moderate additional risk among alcohol drinkers. 14,15 The association between alcohol consumption and colorectal cancer is not conclusive, as some reports have shown an increased risk and others no excess risk.…”

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Polymorphisms of XRCC1 gene, alcohol consumption and colorectal cancer

Hong

Lee

Kim

et al. 2005

Intl Journal of Cancer

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To evaluate contribution of polymorphisms of the XRCC1 gene to the risk of colorectal cancer, we conducted a case-control study of 209 colorectal cancer cases and 209 age-and gender-matched controls in the Korean population. We tested the hypothesis by constructing allele combinations with known SNP. Allelic variants of the XRCC1 gene at codons 194, 280 and 399 were analyzed in lymphocyte DNA by PCR-RFLP. We observed an increased risk of colorectal cancer associated with the 399Gln allele. The odds ratio (OR) was 1.61 (95% confidence interval [CI] 1.09-2.39) for the 399Gln allele. When combined allele-specific OR were calculated after estimating frequencies, 3 common allele combinations were found to be associated with an increased risk of colorectal cancer. The OR for the 194Trp-280Arg-399Arg was 1.48 (95% CI 5 1.06-2.07) using 194Arg-280Arg-399Arg as the reference. The OR for the 194Arg-280His-399Arg and the 194Arg-280Arg-399Gln were 1.78 (95% CI 5 1.09-2.89) and 1.78 (95% CI 5 1.23-2.59), respectively. Analysis after controlling for smoking, exercise and dietary habits indicated that alcohol consumption ( 80 g/week) is a significant risk factor of colorectal cancer (OR 5 2.60, 95% CI 5 1. 46-4.62). An increased risk for colorectal cancer was identified in alcohol drinkers with the risky allele combinations. Our results suggest that polymorphisms in the XRCC1 genes may contribute to colorectal cancer susceptibility, and some evidence was obtained of a genetic modification for the relationship between alcohol intake and colorectal cancer. ' 2005 Wiley-Liss, Inc.Key words: polymorphisms; XRCC1; genotype; allele; colorectal cancer; alcohol Colorectal cancer is one of the most commonly diagnosed cancers in North America and Western Europe, 1 and is the fourth most common cause of cancer in South Korea. 2 Inherited deficiencies in DNA repair have been associated with an individual's susceptibility to cancer. 3 Therefore, polymorphisms of DNA repair genes may increase the risk of colorectal cancer.The human XRCC1 gene, one of the DNA repair genes, was identified because of its ability to restore DNA repair activity in a Chinese hamster ovary mutant cell line EM9. 4 The XRCC1 protein is involved in base-excision repair, and interacts with DNA ligase III, DNA polymerase b, poly(ADP-ribose)polymerase (PARP), polynucleotide kinase and AP endonuclease I. 5-8 The base-excision repair pathway is designed to remove non-bulky base adducts, which are produced by methylation, oxidation or reduction by ionizing radiation or oxidative damage. 9,10 Three coding polymorphisms of the DNA repair gene XRCC1 (Arg194Trp, Arg280His and Arg399Gln) have been identified in man, suggesting altered efficiency due to amino acid substitutions. 11,12 Alcohol consumption has been associated with the production of reactive oxygen species, which are known to cause DNA lesions that can be removed by the DNA base-excision repair pathway. 13 Meta-analyses of alcohol consumption in relation to colorectal cancer have reported a small or moderate addit...

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Polymorphisms of XRCC1 gene, alcohol consumption and colorectal cancer

Hong

Lee

Kim

et al. 2005

Intl Journal of Cancer

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“…Previous studies indicated that the human X-ray repair complementing defective repair in Chinese hamster cells 1 gene (XRCC1) was potentially an important gene influencing the risk of HCC (Rossit et al, 2002;Yu et al, 2003;Chen et al, 2005;Kirk et al, 2005;Borentain et al, 2007;Long et al, 2006Long et al, , 2008Kiran et al, 2009a,b;Liu et al, 2011;Pan et al, 2011;Han et al, 2012;Li et al, 2012). A number of single nucleotide polymorphisms (SNPs) have been identified in XRCC1, such as arg inine(Arg)194tryptophan(Trp), Arg280histidine(His), and Arg399glutamine(Gln) (Rossit et al, 2002;Yu et al, 2003;Long et al, 2008;Kiran et al, 2009a,b;Pan et al, 2011;Han et al, 2012;Li et al, 2012). Furthermore, several studies proved that XRCC1 polymorphisms were associated with HCC (Rossit et al, 2002;Yu et al, 2003;Long et al, 2008;Kiran et al, 2009a,b;Pan et al, 2011;Han et al, 2012;Li et al, 2012).…”

Section: Introductionmentioning

confidence: 99%

“…A number of single nucleotide polymorphisms (SNPs) have been identified in XRCC1, such as arg inine(Arg)194tryptophan(Trp), Arg280histidine(His), and Arg399glutamine(Gln) (Rossit et al, 2002;Yu et al, 2003;Long et al, 2008;Kiran et al, 2009a,b;Pan et al, 2011;Han et al, 2012;Li et al, 2012). Furthermore, several studies proved that XRCC1 polymorphisms were associated with HCC (Rossit et al, 2002;Yu et al, 2003;Long et al, 2008;Kiran et al, 2009a,b;Pan et al, 2011;Han et al, 2012;Li et al, 2012). To date, however, there are no similar reports on the relationship between the c.910A>G and c.1686C>G polymorphisms in XRCC1 and the risk of HCC.…”

Section: Introductionmentioning

confidence: 99%

Association study of c.910A>G and c.1686C>G polymorphisms in XRCC1 gene with risk of hepatocellular carcinoma in the Chinese population

Xia¹,

Ma²,

Li³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. XRCC1 (human X-ray repair complementing defective repair in Chinese hamster cell 1) gene is considered a potentially important gene influencing the risk of hepatocellular carcinoma (HCC). Our analyses detected two allelic variants of XRCC1, c.910A>G and c.1686C>G. We aimed to investigate whether these polymorphisms influence the risk of HCC. The association between the XRCC1 polymorphisms and the risk of HCC was analyzed in 719 patients and 662 controls by polymerase chain reaction-restriction fragment length polymorphism. Our data suggested that the genotypes and alleles of c.910A>G and c.1686C>G polymorphisms were statistically associated with the risk of HCC. For c.910A>G, the GG genotype was associated with increased risk of developing HCC compared with the AA wild XRCC1 associated with liver cancer genotype (OR = 1.95, 95%CI = 1.40-2.70, P < 0.0001). For c.1686C>G, the risk of HCC was significantly higher for the GG genotype compared with the CC wild genotype (OR = 1.89, 95%CI = 1.375-2.599, P < 0.0001). Significant differences in the risk of HCC were also found with other genetic models for these two SNPs. The G allele of both c.910A>G and c.1686C>G may contribute to the risk of HCC (G versus A: OR = 1.40, 95%CI = 1.20-1.64, P < 0.0001 and G versus C: OR = 1.38, 95%CI = 1.19-1.61, P < 0.0001, respectively). Our findings suggest that the c.910A>G and c.1686C>G polymorphisms of XRCC1 are associated with the risk of HCC in the Chinese population.

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