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内皮型一氧化氮合酶基因多态性(-786T>C、4a4b、894G>T)与韩国人群结直肠癌易感性的关联。

Association of eNOS polymorphisms (-786T>C, 4a4b, 894G>T) with colorectal cancer susceptibility in the Korean population.

机构信息

Department of Internal Medicine, School of Medicine, CHA University, Seongnam, South Korea.

出版信息

Gene. 2013 Jan 10;512(2):275-81. doi: 10.1016/j.gene.2012.10.032. Epub 2012 Nov 6.

Abstract

BACKGROUND

Polymorphisms of endothelial nitric oxide synthases (eNOS) have been shown to be associated with cancer susceptibility. However, the results of such studies are conflicting to date. We investigated whether polymorphisms of the eNOS gene correlated with patients with colorectal cancer (CRC), relative to healthy individuals.

PATIENTS AND METHODS

In the present study, we analyzed three polymorphisms of eNOS (-786T>C, 4a4b, and 894G>T) in 509 healthy controls and 528 patients with CRC. The genotyping of eNOS polymorphisms was performed using polymerase chain reaction or polymerase chain reaction-restriction fragment length polymorphism assays.

RESULTS

We found that the TC+CC genotype of the -786T>C polymorphism was significantly associated with an increased risk of CRC compared with the TT genotype. Similarly, the GT+TT genotype of the 894G>T polymorphism was associated with an increased susceptibility to CRC. However, no evidence was found for any association between the 4a4b polymorphism and CRC risk. In addition, the C/4b/G (-786T>C/4a4b/894G>T) haplotype was significantly associated with increased risk of CRC and C/4b/T (-786T>C/4a4b/894G>T) haplotype was only detected in CRC patients.

CONCLUSIONS

Our study suggests that the eNOS -786T>C and 894G>T polymorphisms may be associated with the development of CRC in the Korean population.

摘要

背景

内皮型一氧化氮合酶(eNOS)的多态性与癌症易感性有关。然而,到目前为止,这些研究的结果存在冲突。我们研究了 eNOS 基因的多态性是否与结直肠癌(CRC)患者相关,相对于健康个体。

患者和方法

在本研究中,我们分析了 509 名健康对照者和 528 名 CRC 患者中 eNOS 的三个多态性(-786T>C、4a4b 和 894G>T)。使用聚合酶链反应或聚合酶链反应-限制性片段长度多态性分析进行 eNOS 多态性的基因分型。

结果

我们发现-786T>C 多态性的 TC+CC 基因型与 CRC 的风险增加显著相关,与 TT 基因型相比。同样,894G>T 多态性的 GT+TT 基因型与 CRC 的易感性增加相关。然而,没有证据表明 4a4b 多态性与 CRC 风险之间存在任何关联。此外,C/4b/G(-786T>C/4a4b/894G>T)单倍型与 CRC 风险增加显著相关,而 C/4b/T(-786T>C/4a4b/894G>T)单倍型仅在 CRC 患者中检测到。

结论

我们的研究表明,eNOS-786T>C 和 894G>T 多态性可能与韩国人群 CRC 的发生有关。

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