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Association of ERCC1 and ERCC2 polymorphisms with colorectal cancer risk in a Chinese population

机译:ERCC1 和 ERCC2 多态性与中国人群大肠癌风险的关系

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The ERCC1 and ERCC2 genes are important in repairing DNA damage and genomic instability, and are involved in the nucleotide excision repair pathway. We hypothesized that single nucleotide polymorphisms (SNPs) in ERCC1 and ERCC2 are associated with the risk of colorectal cancer in a Chinese population. To test this hypothesis, we genotyped four functional SNPs ( ERCC1 Asn118Asn, C8092A, ERCC2 Asp312Asn, and Lys751Gln) in a case-control study with 213 colorectal cancer cases and 240 cancer-free controls. We found that the ERCC1 C8092A polymorphism AA and CA/AA variant genotypes were associated with a significantly increased risk of colorectal cancer, compared with the CC genotype (OR = 2.50, 95% CI = 1.10–5.70 for AA versus CC, and OR = 1.58, 95% CI = 1.08–2.30 for CA/AA versus CC). Furthermore, the effect appeared to be more prominent among men, smokers, drinkers, and patients with rectal cancer. However, no other SNPs were observed for any significant association with colorectal cancer risk. These results suggest that the ERCC1 C8092A polymorphism may contribute to colorectal cancer susceptibility in the Chinese population. Further large and functional studies are needed to confirm our findings.
机译:ERCC1和ERCC2基因在修复DNA损伤和基因组不稳定中很重要,并参与核苷酸切除修复途径。我们假设ERCC1和ERCC2中的单核苷酸多态性(SNPs)与中国人群大肠癌的风险相关。为了验证这一假设,我们在一项病例对照研究中对213个大肠癌病例和240个无癌对照进行了基因分型,对四个功能性SNP(ERCC1,Asn118Asn,C8092A,ERCC2 Asp312Asn和Lys751Gln)进行了基因分型。我们发现,与CC基因型相比,ERCC1 C8092A多态性AA和CA / AA变异基因型与大肠癌的风险显着增加相关(AA与CC相比,OR = 2.50,95%CI = 1.10-5.70,OR =对于CA / AA与CC,1.58,95%CI = 1.08–2.30)。此外,这种作用在男性,吸烟者,饮酒者和直肠癌患者中似乎更为突出。但是,没有观察到其他SNP与大肠癌风险有任何显着相关性。这些结果表明,ERCC1 C8092A基因多态性可能有助于中国人群大肠癌的易感性。需要进一步的大型和功能研究来证实我们的发现。

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