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PIK3CA基因中的多态性GT二核苷酸重复序列与结直肠癌风险

Polymorphic GT dinucleotide repeat in the PIK3CA gene and risk of colorectal cancer.

作者信息

Parsafar Soha, Hematti Simin, Ghorbani Fateme, Safari Forousan, Tavassoli Manoochehr

机构信息

Department of Biology, Faculty of Sciences, University of Isfahan, Hezar-Jarib, Isfahan, Iran.

Division of Oncology, Medical Sciences University of Isfahan, Isfahan, Iran.

出版信息

Cancer Biomark. 2015;15(4):397-403. doi: 10.3233/CBM-150487.

Abstract

BACKGROUND

Activated PI3K generate PIP3 to trigger different signaling pathways which regulate a number of cellular functions including cell survival, apoptosis, proliferation and motility. Mutations in many cancers were discovered in the gene encoding the PI3K catalytic subunit, PIK3CA.

OBJECTIVE

To date, there has been no report on the association between polymorphism of PIK3CA gene microsatellites and risk of colorectal cancer. In this study, we investigate the relation between the GT dinucleotide repeat in intron 1 of the PIK3CA gene and colorectal cancer risk.

METHODS

A case-control study of 103 colorectal cancer patients and 150 controls was conducted in Iranian people.

RESULTS

The results of our study demonstrate that PIK3CA gene allele distribution in Iranian population varies between 13 and 20 repeats. Here we demonstrate that individuals who carry alleles shorter than 17 GT repeat are at higher risk of developing colorectal cancer (OR = 4.0, p= 0), by contrast, those individuals with two alleles longer than 16 GT repeats are at a significantly lower risk of developing colorectal cancer (OR = 0.12, p= 0).

CONCLUSION

This result suggests polymorphic GT repeat of PIK3CA gene may be a potential predictive marker of colorectal cancer risk in Iranian population.

摘要

背景

活化的磷脂酰肌醇-3激酶(PI3K)生成磷脂酰肌醇-3,4,5-三磷酸(PIP3)以触发不同的信号通路,这些信号通路调节许多细胞功能,包括细胞存活、凋亡、增殖和迁移。在编码PI3K催化亚基PIK3CA的基因中发现了许多癌症中的突变。

目的

迄今为止,尚无关于PIK3CA基因微卫星多态性与结直肠癌风险之间关联的报道。在本研究中,我们调查了PIK3CA基因第1内含子中的GT二核苷酸重复序列与结直肠癌风险之间的关系。

方法

对103例结直肠癌患者和150例对照进行了一项伊朗人群的病例对照研究。

结果

我们的研究结果表明,伊朗人群中PIK3CA基因的等位基因分布在13至20次重复之间变化。我们在此表明,携带短于17次GT重复等位基因的个体患结直肠癌的风险更高(比值比=4.0,p=0),相比之下,那些具有两个长于16次GT重复等位基因的个体患结直肠癌的风险显著更低(比值比=0.12,p=0)。

结论

该结果表明PIK3CA基因的多态性GT重复序列可能是伊朗人群结直肠癌风险的潜在预测标志物。

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