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土耳其人群中生存素基因多态性与结肠癌发生易感性之间的关联。

Association between survivin gene polymorphisms and the susceptibility to colon cancer development in the Turkish population.

作者信息

Yamak Nesibe, Yaykasli Kursat Oguz, Yilmaz Umit, Eroz Recep, Uzunlar Ali Kemal, Ankarali Handan, Sahiner Cem, Baltaci Davut

机构信息

Department of Medical Biology and Genetics, Institue of Health Science, Duzce University, Duzce, Turkey E-mail :

出版信息

Asian Pac J Cancer Prev. 2014;15(20):8963-7. doi: 10.7314/apjcp.2014.15.20.8963.

Abstract

BACKGROUND

Colon cancer is one of the most common cancers worldwide. Apoptosis is a necessary physiological process for cell elimination which is very important both cellular homeostasis and cell proliferation and differantiation. Dysregulation can lead to uncontrolled cell growth and tumor development. Survivin, a member of the IAP family, plays a key role in promotion of cell proliferation as well as inhibition of apoptosis in cancer cells. The aim of this study was to investigate whether specific genetic polymorphisms of survivin could be associated with colon cancer development and progression in a Turkish population. Our study is the first to our knowledge to investigate the relationship between colon cancer risk and survivin gene polymorphisms.

MATERIALS AND METHODS

The relation between colon cancer and survivin -31 G/C (rs9904341), -241 C/T (rs17878467) and -625 C/G (rs8073069) polymorphism in promotor site of survivin gene associated with apoptosis was investigated using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.

RESULTS

Individuals with -31C allele and CC genotype were found to have a higher risk of developing colon cancer (OR=13.4, p=0.01). The -241 CT genotype considerably increased the risk of colon cancer (OR=12.0, p=0.0001). However, there was no significant varaition of the survivin -625 C/G polymorphism among colon cancer patients and controls in our study.

CONCLUSIONS

This study provides the first evidence that survivin -31 G/C and -241 C/T SNP significantly contribute to the risk of colon cancer in the Turkish population.

摘要

背景

结肠癌是全球最常见的癌症之一。细胞凋亡是细胞清除的必要生理过程,对细胞内环境稳定以及细胞增殖和分化都非常重要。调节异常会导致细胞生长失控和肿瘤发展。存活素是凋亡抑制蛋白(IAP)家族的成员之一,在促进癌细胞增殖以及抑制细胞凋亡方面发挥关键作用。本研究的目的是调查存活素的特定基因多态性是否与土耳其人群中结肠癌的发生和进展相关。据我们所知,我们的研究是首个调查结肠癌风险与存活素基因多态性之间关系的研究。

材料与方法

采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,研究结肠癌与存活素基因启动子区域与凋亡相关的-31 G/C(rs9904341)、-241 C/T(rs17878467)和-625 C/G(rs8073069)多态性之间的关系。

结果

发现携带-31C等位基因和CC基因型的个体患结肠癌的风险更高(OR=13.4,p=0.01)。-241 CT基因型显著增加了患结肠癌的风险(OR=12.0,p=0.0001)。然而,在我们的研究中,结肠癌患者和对照组之间存活素-625 C/G多态性没有显著差异。

结论

本研究首次提供证据表明,存活素-31 G/C和-241 C/T单核苷酸多态性(SNP)显著增加了土耳其人群患结肠癌的风险。

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