核黄素转运蛋白C20orf54基因rs3746804位点单核苷酸多态性与食管鳞癌遗传易感性的关系

  目的 探讨核黄素转运蛋白C20orf54基因外显子3中rs3746804位点单核苷酸多态性（SNP）与食管鳞癌（ESCC）遗传易感性的关系。方法 磁珠法提取全血基因组DNA，以直接测序方法对434例包括长治、林州两地ESCC患者与554例包括长治、林州健康人群及由林州移居长治的健康移民5组人群的C20orf54基因外显子3的SNP1139C>T进行基因分型。结果 长治ESCC组与长治健康组、健康移民组在基因型CT(37.5%比51.0%、37.5%比52.0%)、CC(44.2%比34.8%、44.2%比33.0%)的分布频率上差异明显（P值均<0.05），与林州ESCC组在基因型TT(18.3%比4.1%)、CC(44.2%比54.6%)的分布频率上有明显差异（P值均<0.05）；林州ESCC组与健康移民组在基因型TT(4.1%比15.0%)、CT(41.2%比52.0%)、CC (54.6%比33.0%)的分布频率上差异明显（P值均<0.05），与长治健康组在基因型TT(4.1%比14.1%)、CC(54.6%比34.8%)的分布频率上差异明显（P值均<0.01）。肿瘤组（长治ESCC组+林州ESCC组）与健康组（长治健康组+林州健康组+健康移民组）在基因型CT(39.2%比48.7%)和CC (48.8%比38.2%)的分布频率上差异明显（P值均<0.01）。相对于CC基因型，CT和CT+TT基因型可以降低食管癌发生的危险性（OR=0.630，95%CI 0.481~0.826；OR=0.654，95%CI 0.507~0.844）。结论 C20orf54基因外显子3中rs3746804 位点的SNP与食管鳞癌的遗传易感性明显相关。

The relationship between C20orf54 gene rs3746804 position single nucleotide polymorphism and susceptibility to esophageal squamous cell carcinoma

Objective To explore the association of C20orf54 gene rs3746804 position single nucleotide polymorphism and susceptibility to esophageal squamous cell carcinoma (ESCC).MethodsPurification of genomic DNA from whole blood was used the Maxwell^16 System. rs3746804 in C20orf54 was detected by direct sequencing in 434 ESCC patients from Changzhi (Shanxi province) and Linzhou (Henan province) and 554 healthy controls from Changzhi, Linzhou and including immigrators from Linzhou to Changzhi.Results For rs3746804, the genotypic frequencies of CT(37.5% vs 51.0%，37.5% vs 52.0%), CC(44.2% vs 34.8%，44.2% vs 33.0%) in Changzhi ESCC patients showed significant differences with healthy Changzhi controls and the healthy immigrator controls (all P<0.05), and the frequencies of TT(18.3% vs 4.1%) and CC(44.2% vs 54.6%) in Changzhi ESCC patients showed significant differences with Linzhou ESCC patients (all P<0.05). The genotypic frequencies of TT (4.1% vs 15.0%), CT (41.2% vs 52.0%) and CC(54.6% vs 33.0%) showed significant differences between Linzhou ESCC patients and the healthy immigrator controls (all P<0.05), and the frequencies of TT(4.1% vs 14.1%) and CC(54.6% vs 34.8%) showed significant differences between Linzhou ESCC patients and Changzhi healthy controls (all P<0.01). Meanwhile, there were significant differences between ESCC patients (including Changzhi and Linzhou ESCC patients) and healthy controls (including the healthy Changzhi, Linzhou and immigrator controls) in genotypic frequencies of CT(39.2% vs 48.7%) and CC(48.8% vs 38.2%)(all P<0.01). CT and CT +TT genotype could decrease the risk of ESCC compared with the CC genotype (OR=0.630，95%CI 0.481-0.826；OR=0.654，95%CI 0.507-0.844).Conclusion There is a closed relationship between SNP rs3746804 in C20orf54 and susceptibility to ESCC.