Variations in AXIN2 predict risk and prognosis of colorectal cancer,BDJ Open

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Variations in AXIN2 predict risk and prognosis of colorectal cancer
BDJ Open ( IF 2.5 ) Pub Date : 2019-10-16 , DOI: 10.1038/s41405-019-0022-z
L Otero ₁ , E Lacunza ₂ , V Vasquez ₃ , V Arbelaez ₄ , F Cardier ₃ , F González ₅

Affiliation

Objective

Colorectal cancer (CRC) and hypodontia are frequent and different diseases with common genes are involved in their etiology. The objective of this study was to identify the association between AXIN2 rs2240308 with hypodontia and CRC.

Patients and methods

This study consisted of 50 individuals with hypodontia, 50 individuals with CRC, and 155 healthy individuals from Colombia. SNP genotyping assays of rs2240308 were performed and family history of cancer in individuals with hypodontia was documented. In silico analysis was implemented to define the genomic profile of the AXIN2 gene associated with CRC. Multivariate analysis, chi square, odd ratio tests, and R software were used for statistical analysis.

Results

AXIN2 rs2240308 showed association with CRC (OR = 5.4 CI: 2.7–10.4; p < 0.001) and with other familial cancer in individuals with hypodontia (p < 0.005 OR = 1.75, 95% CI: 1.22–6.91). In silico analysis showed that variations in AXIN2 found in CRC patients, were more frequently in earlier stages of tumor and patients who carry variations in the AXIN2 gene have a worse prognosis (p < 0.05). The association between AXIN2 rs2240308 with hypodontia was not significant.

Conclusions

These results suggest that AXIN2 rs2240308 polymorphism is associated with CRC and AXIN2 could be a risk marker for predisposition and prognosis of CRC.

中文翻译：

AXIN2 的变异可预测结直肠癌的风险和预后

客观的

结直肠癌 (CRC) 和缺牙症很常见，并且具有共同基因的不同疾病涉及其病因。本研究的目的是确定 AXIN2 rs2240308 与缺牙症和 CRC 之间的关联。

患者和方法

这项研究由来自哥伦比亚的 50 名牙周病患者、50 名 CRC 患者和 155 名健康人组成。对 rs2240308 进行了 SNP 基因分型分析，并记录了牙齿发育不全患者的癌症家族史。进行计算机分析以定义与 CRC 相关的 AXIN2 基因的基因组谱。多变量分析、卡方检验、奇数比检验和R软件用于统计分析。

结果

AXIN2 rs2240308 显示与 CRC (OR = 5.4 CI: 2.7–10.4; p < 0.001) 和其他家族性癌症在缺牙症患者中的相关性 ( p < 0.005 OR = 1.75, 95% CI: 1.22–6.91)。计算机分析表明，在 CRC 患者中发现的 AXIN2 变异在肿瘤的早期阶段更为常见，携带 AXIN2 基因变异的患者预后较差（p <0.05）。AXIN2 rs2240308 与缺牙症之间的关联并不显着。