XRCC1基因Arg194Trp和Arg399Gln多态性与肝外胆管癌风险：一项基于中国医院的病例对照研究。
XRCC1 Arg194Trp and Arg399Gln polymorphisms and risk of extrahepatic cholangiocarcinoma: a hospital-based case-control study in China.
作者信息
Gong Yuanfeng, Qi Ming, Chen Jun, Fang Runya, Mai Cong, Chen Tiejun, Tang Hui, Tang Yunqiang
机构信息
Department of Hepatobiliary Surgery, Affiliated Cancer Hospital of Guangzhou Medical University 78 Hengzhigang Road, Guangzhou 510095, China.
Department of Breast and Thyroid Surgery, Shandong Provincial Hospital Affiliated to Shandong University 324 Jingwu-Weiqi Road, Jinan 250021, China.
出版信息
Int J Clin Exp Med. 2015 Oct 15;8(10):19339-45. eCollection 2015.
BACKGROUND
Extrahepatic cholangiocarcinoma (ECCA) is a rare but devastating malignancy. Up to 90% of patients presenting with ECCA have no identifiable risk factors. The base excision repair (BER) pathway has a principal role in the repair of mutations caused by oxidized or reduced bases. The XRCC1 is one of the key proteins in the BER pathway. In this study, we investigated the influence of XRCC1 Arg194Trp and Arg399Gln polymorphisms on ECCA incidence.
METHODS
The study included 189 ECCA patients and 216 controls. Genotypes were detected by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method.
RESULTS
For codon 194, the genotype frequencies of C/C, T/C and T/T were 51.3, 43.4 and 5.3%, respectively, in the ECCA cases compared with 54.2, 38.9 and 6.9%, respectively, in the controls. No statistically significant differences were observed in the genotype frequencies of codon 194 between the two groups compared to the control (TC, OR: 0.85, 95% CI: 0.57-1.28, TT, OR: 1.24, 95% CI: 0.54-2.89, TC+TT, OR: 0.89, 95% CI: 0.60-1.32). For codon 399, the genotype frequencies of G/G, G/A and A/A were 54.0, 37.0 and 9.0%, respectively, in the ECCA cases compared with 56.1, 39.8 and 4.1%, respectively, in the controls. No statistically significant differences were observed in the genotype frequencies codon 399 between the two groups compared to the control (GA, OR: 1.04, 95% CI: 0.69-1.56, AA, OR: 0.45, 95% CI: 0.19-1.04, GA+AA, OR: 0.92, 95% CI: 0.62-1.36). Meanwhile, no statistically significant differences were found in the haplotype and risk of developing ECCA compared to the control (CA, OR: 0.83, 95% CI: 0.49-1.39, TG, OR: 0.96, 95% CI: 0.58-1.60, TA, OR: 0.83, 95% CI: 0.38-1.82).
CONCLUSION
The present study suggested that Arg194Trp and Arg399Gln polymorphism in the DNA repair gene XRCC1 was not statistically associated with risk of ECCA. It would be necessary to confirm these findings in a large sample size and multiethnic population study in future.
背景
肝外胆管癌（ECCA）是一种罕见但具有毁灭性的恶性肿瘤。高达90%的ECCA患者没有可识别的危险因素。碱基切除修复（BER）途径在修复由氧化或还原碱基引起的突变中起主要作用。XRCC1是BER途径中的关键蛋白之一。在本研究中，我们调查了XRCC1基因的Arg194Trp和Arg399Gln多态性对ECCA发病率的影响。
方法
该研究纳入了189例ECCA患者和216例对照。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测基因型。
结果
对于密码子194，ECCA病例中C/C、T/C和T/T基因型频率分别为51.3%、43.4%和5.3%，而对照组分别为54.2%、38.9%和6.9%。与对照组相比，两组密码子194的基因型频率无统计学显著差异（TC，比值比：0.85，95%可信区间：0.57-1.28；TT，比值比：1.24，95%可信区间：0.54-2.89；TC+TT，比值比：0.89，95%可信区间：0.60-1.32）。对于密码子399，ECCA病例中G/G、G/A和A/A基因型频率分别为54.0%、37.0%和9.0%，而对照组分别为56.1%、39.8%和4.1%。与对照组相比，两组密码子399的基因型频率无统计学显著差异（GA，比值比：1.04，95%可信区间：0.69-1.56；AA，比值比：0.45，95%可信区间：0.19-1.04；GA+AA，比值比：0.92，95%可信区间：0.62-1.36）。同时，与对照组相比，单倍型及发生ECCA的风险无统计学显著差异（CA，比值比：0.83，95%可信区间：0.49-1.39；TG，比值比：0.96，95%可信区间：0.58-1.60；TA，比值比：0.83，95%可信区间：0.38-1.82）。
结论
本研究表明，DNA修复基因XRCC1中的Arg194Trp和Arg399Gln多态性与ECCA风险无统计学关联。未来有必要在大样本和多民族人群研究中证实这些发现。
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