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Association study of single nucleotide polymorphisms in XRCC1 gene with risk of hepatocellular carcinoma in Chinese Han population.

ABSTRACT: Hepatocellular carcinoma (HCC) is one of the most frequently causing cancer-related deaths worldwide. Previous evidence suggests that the X-ray repair cross-complementing group 1 gene (XRCC1) is an important candidate gene for influencing the risk of HCC. The aim of this study was to assess the association of XRCC1 genetic polymorphisms with the risk of HCC in Chinese Han population. A total of 1314 subjects, including 651 HCC patients and 663 healthy controls, were enrolled in this case-control study. Two genetic variants (c.1254C>T and c.1517G>C) in XRCC1 gene were genotyped by created restriction site-polymerase chain reaction (CRS-PCR) and PCR-restriction fragment length polymorphism (PCR-RFLP) methods. Our data indicated that the allele and genotype frequencies of these two genetic variants were statistical difference in HCC cases and healthy controls. Association analyses suggested that these two genetic variants were statistically associated with the increased risk of HCC in all genetic models (for c.1254C>T, TT versus CC: OR = 2.30, 95% CI 1.61-3.28; CT versus CC: OR = 1.32, 95% CI 1.05-1.67; TT/CT versus CC: OR = 1.50, 95% CI 1.20-1.86; TT versus CT/CC: OR = 2.00, 95% CI 1.43-2.80; T versus C: OR = 1.47, 95% CI 1.25-1.73; for c.1517G>C, CC versus GG: OR = 1.90, 95% CI 1.34-2.69; GC versus GG: OR = 1.56, 95% CI 1.24-1.97; CC/GC versus GG: OR = 1.63, 95% CI 1.31-2.03; CC versus GC/GG: OR = 1.52, 95% CI 1.10-2.11; C versus G: OR = 1.45, 95% CI 1.23-1.70). The allele-T of c.1254C>T and allele-C of c.1517G>C genetic variants may contribute to HCC susceptibility in Chinese Han population.

SUBMITTER: Bi J

PROVIDER: S-EPMC3745909 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Association study of single nucleotide polymorphisms in XRCC1 gene with risk of hepatocellular carcinoma in Chinese Han population.

Bi Jingwang J Zhong Chen C Li Kainan K Chu Huili H Wang Baocheng B

BioMed research international 20130730

Hepatocellular carcinoma (HCC) is one of the most frequently causing cancer-related deaths worldwide. Previous evidence suggests that the X-ray repair cross-complementing group 1 gene (XRCC1) is an important candidate gene for influencing the risk of HCC. The aim of this study was to assess the association of XRCC1 genetic polymorphisms with the risk of HCC in Chinese Han population. A total of 1314 subjects, including 651 HCC patients and 663 healthy controls, were enrolled in this case-control ...[more]

PMID: 23984316

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Project description:BackgroundPolymorphisms of genes encoding components of the vitamin D pathway including vitamin D receptor (VDR) and vitamin D binding protein (DBP) have been widely investigated because of the complex role played by vitamin D in cancer tumorogenesis. In this study, we investigated the association between VDR and DBP gene polymorphisms and HBV-related HCC risk in a Chinese population.MethodsStudy subjects were divided into three groups: 184 HBV patients with HCC, 296 HBV patients without HCC, and 180 healthy controls. The VDR rs2228570, and rs3782905 and the DBP rs7041 polymorphisms were genotyped using PCR-RFLP and the VDR rs11568820 polymorphism was genotyped by PCR-SSP, respectively. DNA sequencing was performed to validate the genotype results.ResultsWe found that there were significant differences in the genotype and allele frequencies of the VDR rs2228570 and DBP rs7041 polymorphisms between HBV patients with HCC and healthy controls. The rs2228570 T allele was associated with a significant increased HBV-related HCC risk as compared with the C allele. The rs2228570 TT and TT/TC genotypes were correlated with a significant increased HBV-related HCC risk when compared with the wild-type CC homozygote. Similarly, the rs7041 G allele was associated with a significant increased HBV-related HCC risk as compared with the T allele. The rs7041 GG and GG/TG genotypes were correlated with a significant increased HBV-related HCC risk when compared with the wild-type TT homozygote. However, we did not observe any significant effect of VDR rs11568820, and rs3782905 polymorphisms on HBV-related HCC risk in this population. In haplotype analysis, we also did not find any significant differences in haplotype frequencies of the VDR gene between HBV patients with HCC and the healthy controls.ConclusionsWe conclude that the VDR rs2228570 and DBP rs7041 polymorphisms may contribute to increased susceptibility to HBV-related HCC in the Chinese population. Due to the marginal significance, further large and well-designed studies in diverse ethnic populations are needed to confirm our results.

Dataset Information

Association study of single nucleotide polymorphisms in XRCC1 gene with risk of hepatocellular carcinoma in Chinese Han population.

Publications

Association study of single nucleotide polymorphisms in XRCC1 gene with risk of hepatocellular carcinoma in Chinese Han population.

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