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印度北部 survivin 基因启动子多态性(-31G>C)与食管癌易感性和生存的关系。

Role of survivin gene promoter polymorphism (-31G>C) in susceptibility and survival of esophageal cancer in northern India.

机构信息

Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

出版信息

Ann Surg Oncol. 2011 Mar;18(3):880-7. doi: 10.1245/s10434-010-1371-y. Epub 2010 Oct 19.

Abstract

BACKGROUND AND AIM

Survivin is an upregulated inhibitor of apoptosis protein in esophageal cancer (EC), and a promoter region polymorphism (-31G>C) in the survivin gene has been reported as a modulator of gene expression. We aim to explore the role of survivin -31G>C polymorphism in susceptibility and survival of EC patients in northern Indian population.

MATERIALS AND METHODS

A case-control study was performed in 500 subjects (250 EC patients and 250 controls), and genotyping was done by polymerase chain reaction (PCR) restriction fragment length polymorphism (RFLP) method.

RESULTS

Survivin CC genotype was found to be significantly associated with EC susceptibility [odds ratio (OR) = 2.29; 95% confidence interval (CI) = 1.27-4.14; P = 0.006], particularly in males (OR = 4.91; 95% CI = 2.19-11.02; P = 0.0001) having squamous cell carcinoma (SCC) histopathology (OR = 2.4; 95% CI = 1.36-4.21; P = 0.002) at middle third esophagus location (OR = 2.60; 95% CI = 1.40-4.82; P = 0.002). Patients carrying CC genotype were found to have higher susceptibility to lymph node metastasis (OR = 2.82; 95% CI = 1.46-5.48; P = 0.002). However, on survival analysis, no prognostic role of survivin -31G>C polymorphism was detected. In case-only analysis, no gene-environment interaction was observed.

CONCLUSION

Survivin promoter region polymorphism (-31G>C) is associated with susceptibility and clinical characteristics but not prognosis of esophageal cancer in northern Indian population.

摘要

背景与目的

Survivin 是食管癌(EC)中凋亡抑制蛋白的上调因子,已有报道称 survivin 基因启动子区域的 -31G>C 多态性可调节基因表达。本研究旨在探讨 survivin-31G>C 多态性在印度北部人群 EC 患者易感性和生存中的作用。

材料与方法

采用病例对照研究,共纳入 500 例研究对象(250 例 EC 患者和 250 例对照),采用聚合酶链反应(PCR)限制性片段长度多态性(RFLP)方法进行基因分型。

结果

CC 基因型与 EC 易感性显著相关(比值比 [OR] = 2.29;95%置信区间 [CI] = 1.27-4.14;P = 0.006),尤其是在男性(OR = 4.91;95%CI = 2.19-11.02;P = 0.0001)、食管中段鳞癌(OR = 2.4;95%CI = 1.36-4.21;P = 0.002)和中下段食管癌(OR = 2.60;95%CI = 1.40-4.82;P = 0.002)患者中。携带 CC 基因型的患者发生淋巴结转移的易感性更高(OR = 2.82;95%CI = 1.46-5.48;P = 0.002)。然而,在生存分析中,未发现 survivin-31G>C 多态性具有预后作用。在病例对照分析中,未观察到基因-环境相互作用。

结论

Survivin 基因启动子区 -31G>C 多态性与印度北部人群 EC 的易感性和临床特征相关,但与预后无关。

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