[C20orf54基因rs3746804位点单核苷酸多态性与食管鳞状细胞癌易感性的关系]

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

作者信息

Ji Ai-fang, Wei Wu, Yang Jian-zhou, Wang Jin-sheng, Zhao Li, Wei Zi-bai, Lian Chang-hong, Ma Liang, Ma Li, Wang Hai-li, Qin Xiao-qi, Wang Li-dong

机构信息

Zhengzhou University, Zhengzhou, China.

出版信息

Zhonghua Nei Ke Za Zhi. 2012 Dec;51(12):982-6.

PMID:23327963

Abstract

OBJECTIVE

To explore the association of C20orf54 gene rs3746804 position single nucleotide polymorphism and susceptibility to esophageal squamous cell carcinoma (ESCC).

METHODS

Purification 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.

摘要

目的

探讨C20orf54基因rs3746804位点单核苷酸多态性与食管鳞状细胞癌（ESCC）易感性的关系。

方法

采用Maxwell(16)系统从全血中纯化基因组DNA。通过直接测序法检测山西省长治市、河南省林州市434例ESCC患者及长治市、林州市包括从林州移民至长治的554例健康对照者C20orf54基因的rs3746804。

结果

对于rs3746804，长治ESCC患者中CT基因型频率（37.5%对51.0%，37.5%对52.0%）、CC基因型频率（44.2%对34.8%，44.2%对33.0%）与长治健康对照者及健康移民对照者相比有显著差异（均P<0.05），长治ESCC患者中TT基因型频率（18.3%对4.1%）和CC基因型频率（44.2%对54.6%）与林州ESCC患者相比有显著差异（均P<0.05）。林州ESCC患者与健康移民对照者之间TT基因型频率（4.1%对15.0%）、CT基因型频率（41.2%对52.0%）和CC基因型频率（54.6%对33.0%）有显著差异（均P<0.05），林州ESCC患者与长治健康对照者之间TT基因型频率（4.1%对14.1%）和CC基因型频率（54.6%对34.8%）有显著差异（均P<0.01）。同时，ESCC患者（包括长治和林州ESCC患者）与健康对照者（包括长治、林州健康对照者及健康移民对照者）之间CT基因型频率（39.2%对48.7%）和CC基因型频率（48.8%对38.2%）有显著差异（均P<0.01）。与CC基因型相比，CT和CT+TT基因型可降低ESCC风险（OR=0.630，95%CI 0.481 - 0.826；OR=0.654，95%CI 0.507 - 0.844）。