Polymorphisms in genes of APE1, PARP1, and XRCC1: risk and prognosis of colorectal cancer in a Northeast Chinese population
Polymorphisms in genes of APE1, PARP1, and XRCC1: risk and prognosis of colorectal cancer in a Northeast Chinese population
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DOI：
10.1007/s12032-013-0505-z
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发表时间：
2013-06-01
期刊：
影响因子：
3.4
通讯作者：
Zhao, Yashuang
中科院分区：
文献类型：
--
作者：
Li, Ye;Li, Shuying;Zhao, Yashuang
碱基切除修复（BER）途径在维持基因组完整性中起着重要作用。BER基因多态性调节DNA修复能力，可能影响癌症的易感性和预后。本研究采用病例对照研究和随访的方法，探讨BER基因多态性与结直肠癌（CRC）发病风险及预后的关系。该研究包括451名CRC患者和631名对照。采用PCR-RFLP方法检测了无嘌呤/无嘧啶核酸内切酶-1（APE 1）、ADP核糖基转移酶（ADPRT，也称为PARP 1）和X射线修复交叉互补组1（XRCC 1）基因的4个单核苷酸多态性（SNP）。采用非条件Logistic回归和考克斯比例风险模型计算比值比（OR）、风险比（HR）及其95%可信区间（CI）。PARP 1762隐性模式（OR = 1.57，95%CI 1.12-2.20）和XRCC 1194显性模式（OR = 1.45，95%CI 1.12-1.88）与结直肠癌风险增加相关。随着假定风险基因型数量的增加，检测到CRC风险的显著增加趋势（P趋势= 0.00）。然而，这四个SNPs与CRC的预后之间没有发现关联。结论：APE 1（Asp 148 Glu）、PARP 1（Ala 762 Val）和XRCC 1（Arg 399 Gln，Arg 194 Trp）与结直肠癌易感性相关，但与结直肠癌预后无关。
Base excision repair (BER) pathway plays critical role in maintaining genome integrity. Polymorphisms in BER genes which modulate the DNA repair capacity may affect the susceptibility and prognosis of cancer. We conducted a case-control study and followed up the cases to explore the associations between BER genes polymorphisms and the risk and prognosis of colorectal cancer (CRC). This study included 451 CRC patients and 631 controls. Four single-nucleotide polymorphisms (SNPs) in genes of apurinic/apyrimidinic endonuclease-1 (APE1), ADP-ribosyltransferase (ADPRT, also known as PARP1), and X-ray repair cross-complementing groups 1 (XRCC1) were tested by PCR-RFLP. Odds ratio (OR), hazard ratio (HR), and their 95 % confidence intervals (CIs) were calculated by unconditional logistic regression and Cox proportional hazard model. PARP1 762 recessive model (OR = 1.57, 95 % CI 1.12-2.20) and XRCC1 194 dominant model (OR = 1.45, 95 % CI 1.12-1.88) were associated with increased CRC risk. A significant increasing trend for the risk of CRC was detected with the increasing number of putative risk genotypes (P-trend = 0.00). However, no association was found between these four SNPs and the prognosis of CRC. In conclusion, APE1 (Asp148Glu), PARP1 (Ala762Val), and XRCC1 (Arg399Gln, Arg194Trp) were associated with the susceptibility to CRC, but were not associated with the prognosis of CRC.