C20orf54 基因中的功能性 SNP(rs3746804) 可改变食管鳞癌的易感性。

The functional SNP rs3746804 in C20orf54 modifies susceptibility to esophageal squamous cell carcinoma.

机构信息

Central Laboratory, Heping Hospital Affiliated to Changzhi Medical University, Changzhi, China.

出版信息

Oncol Res Treat. 2014;37(11):654-7. doi: 10.1159/000368314. Epub 2014 Oct 20.

DOI:10.1159/000368314

PMID:25427582

Abstract

OBJECTIVE

The aim of the present study was to explore the association of the functional single-nucleotide polymorphism (SNP) rs3746804 in C20orf54 with the susceptibility to esophageal squamous cell carcinoma (ESCC).

METHODS

SNP rs3746804 in C20orf54 was detected by direct sequencing in 434 ESCC patients and 554 healthy controls from Shanxi and Henan Provinces in China, geographically a high incidence area for ESCC. The frequencies and distribution of TT, CT, and CC genotypes of SNP rs3746804 between those 2 cohorts were compared and its association with ESCC was assessed.

RESULTS

For SNP rs3746804 the genotype distribution of CT and CC in ESCC patients both significantly differed from those in healthy controls (p=0.002, 0.001, respectively), while the distribution of TT did not differ significantly between the groups (p=0.757). The ratio of T:C was high in healthy individuals and low in ESCC patients. Compared to genotype CC, both genotypes CT (odds ratio (OR)=0.63, 95% confidence interval (CI) 0.48l-0.826), and CT+TT (OR=0.654, 95% CI 0.507-0.844) were associated with significantly decreased risk for ESCC.

CONCLUSION

A close association exists between functional SNP rs3746804 in C20orf54 and susceptibility to ESCC.

摘要

目的

本研究旨在探讨 C20orf54 基因上的功能性单核苷酸多态性（SNP）rs3746804 与食管鳞状细胞癌（ESCC）易感性的关系。

方法

在中国山西省和河南省的 434 例 ESCC 患者和 554 例健康对照者中，通过直接测序法检测 C20orf54 上的 SNP rs3746804。比较这两组人群中 SNP rs3746804 的 TT、CT 和 CC 基因型的频率和分布，并评估其与 ESCC 的相关性。

结果

对于 SNP rs3746804，ESCC 患者的 CT 和 CC 基因型分布均与健康对照组显著不同（p=0.002，0.001），而 TT 基因型的分布在两组间无显著差异（p=0.757）。健康个体中 T:C 比值较高，而 ESCC 患者中 T:C 比值较低。与 CC 基因型相比，CT 基因型（比值比（OR）=0.63，95%置信区间（CI）0.481-0.826）和 CT+TT 基因型（OR=0.654，95% CI 0.507-0.844）均与 ESCC 的发病风险显著降低相关。