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瑞典患者DNA修复基因XRCC1和XRCC6中的基因多态性及其与结直肠癌的关联

Gene polymorphism in DNA repair genes XRCC1 and XRCC6 and association with colorectal cancer in Swedish patients.

作者信息

Dimberg Jan, Skarstedt Marita, Slind Olsen Renate, Andersson Roland E, Matussek Andreas

机构信息

Department of Natural Science and Biomedicine, School of Health and Welfare, Jönköping University, Jönköping, Sweden.

Division of Medical Diagnostics, Department of Laboratory Medicine, Region Jönköping County, Jönköping, Sweden.

出版信息

APMIS. 2016 Sep;124(9):736-40. doi: 10.1111/apm.12563. Epub 2016 Jun 22.

DOI:10.1111/apm.12563
PMID:27328741
Abstract

The DNA repair genes XRCC1 and XRCC6 have been proposed to participate in the pathological process of cancer by modulating the DNA repair capacity. This study evaluated the susceptibility of the single-nucleotide polymorphisms (SNPs) XRCC1 (rs25487, G > A) and XRCC6 (rs2267437, C > G) to colorectal cancer (CRC) and their association with clinical parameters in Swedish patients with CRC. Using the TaqMan system, these SNPs were screened in 452 patients and 464 controls. No significant difference in genotype distribution was found between the patients and controls, or any significant association with cancer-specific or disease-free survival in patients. However, we showed that the carriers of allele A in XRCC1 (rs25487, G > A) were connected with a higher risk of disseminated CRC (Odds Ratio = 1.64; 95% Confidence Interval = 1.12-2.41, p = 0.012).

摘要

有人提出DNA修复基因XRCC1和XRCC6通过调节DNA修复能力参与癌症的病理过程。本研究评估了单核苷酸多态性(SNP)XRCC1(rs25487,G>A)和XRCC6(rs2267437,C>G)对结直肠癌(CRC)的易感性及其与瑞典CRC患者临床参数的关联。使用TaqMan系统,在452例患者和464例对照中筛选了这些SNP。患者和对照之间未发现基因型分布有显著差异,也未发现与患者的癌症特异性生存或无病生存有任何显著关联。然而,我们发现XRCC1(rs25487,G>A)中A等位基因的携带者与播散性CRC的较高风险相关(优势比=1.64;95%置信区间=1.12-2.41,p=0.012)。

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