A study of the polymorphisms of XPC rs2279017 and susceptibility of esophageal cancer
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摘要:
目的 探讨着色性干皮病基因组C(xeroderma pigmentosum group C, XPC)位点多态与长治市食管癌的关系以及主要危险因素的交互作用。 方法 采用成组匹配病例对照研究的方法，对150例食管癌患者和176例对照者进行问卷调查，应用实时荧光定量聚合酶链反应方法(real-time polymerase chain reaction, RT-PCR)对XPC rs2279017进行多态性检测，采用SPSS 20.0软件对研究结果进行统计分析。 结果 正常人群中，XPC基因型频率(GG、GT、TT)分别为48.86%、42.05%、9.09%，食管癌患者中分别为29.33%、46.00%、24.67%，差异有统计学意义(χ2 =20.12, P＜0.001)；携带等位基因T发生食管癌的风险是携带等位基因G的2.11倍(OR=2.11, 95% CI: 1.53~2.92, P < 0.001)；交互作用分析显示XPC突变基因T与饮酒具有协同作用(RERI=1.26, S=1.91, API=0.35)。 结论 XPC rs2279017位点多态性可能与长治市食管癌的发生有关。 -
关键词:
- 食管癌 /
- 着色性干皮病基因组C /
- 基因多态性 /
- 交互作用
Abstract:Objective To investigate the relationship between the polymorphisms of xeroderma pigmentosum group C (XPC) rs2279017 and the susceptibility of esophageal cancer in Changzhi area and its interaction with major risk factors. Methods In this study, 150 cases of esophageal cancer and 176 cases of control were selected to participate in the questionnaire survey, and the group case-control study was conducted. Then, the genotype of XPC rs2279017 was detected by quantitatire real-time PCR. The results were analyzed by SPSS 20.0. Results In the control group, the frequencies of XPC genotype (GG, GT, TT) were 48.86%, 42.05%, 9.09%, respectively. Among the esophageal cancer group, the rates were 29.33%, 46.00% and 24.67%, respectively, and the difference was statistically significant (χ2 =20.12, P < 0.001). The risk of esophageal cancer with allele T was 2.11 times that with allele G (OR=2.11, 95% CI: 1.53-2.92, P < 0.001). In addition, interaction analysis showed that XPC mutant T had a synergistic effect on alcohol consumption (RERI=1.26, S=1.91, API=0.35). Conclusions Polymorphism of XPC rs2279017 may be related to the occurrence of esophageal cancer in Changzhi City. -
Key words:
- Esophageal cancer /
- Xeroderma pigmentosum group C /
- Genetic polymorphisms /
- Interaction
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图 1 XPC基因实时荧光定量PCR分型结果
Figure 1. Real-time fluorescence quantitative PCR results of XPC genotyping
表 1 XPC分布的Hardy-Weinberg平衡检验[n(%)]
Table 1. Hardy-Weinberg Equilibrium Test for the distribution of XPC [n(%)]
XPC基因型 实际频数 理论频数 χ2值 P值 GG 86 70.21 5.46 0.065 GT 74 77.23 TT 16 28.60 
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表 2 XPC等位基因频率分布[n(%)]
Table 2. Frequency distributions of XPC allele gene [n(%)]
等位基因 病例组 对照组 OR(95% CI)值 χ2值 P值 G 157(52.33) 246(69.89) 1.00 21.14 ＜0.001 T 143(47.67) 106(30.11) 2.11(1.53~2.92)
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表 3 XPC基因型频率分布及与食管癌危险性的关系[n(%)]
Table 3. Relationship between the distribution of XPC genotype and esophageal cancer [n(%)]
XPC基因型 病例组 对照组 OR(95% CI)值 χ2值 P值 GG 44(29.33) 86(48.86) 1.00 20.12 ＜0.001 GT 69(46.00) 74(42.05) 1.82(1.12~2.97) TT 37(24.67) 16(9.09) 4.52(2.27~9.01)
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表 4 XPC与饮酒的交互作用分析
Table 4. Interaction between XPC genotype and drinking
XPC 饮酒 病例组 对照组 OR(95% CI)值 χ2值 P值 1 1 40 23 3.64(1.88~7.07) 15.15 ＜0.001 1 0 66 67 2.06(1.20~3.54) 6.96 0.008 0 1 12 19 1.32(0.57~3.05) 0.43 0.512 0 0 32 67 1.00
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