并且多态性与林奇综合征患者的结直肠癌相关。

, and Polymorphisms Are Associated with Colorectal Cancer in Patients with Lynch Syndrome.

作者信息

Kamiza Abram Bunya, Wang Wen-Chang, You Jeng-Fu, Tang Reiping, Wang Yen-Ting, Chien Huei-Tzu, Lai Chih-Hsiung, Chiu Li-Ling, Lo Tsai-Ping, Hung Kuan-Yi, Hsiung Chao Agnes, Yeh Chih-Ching

机构信息

School of Public Health, College of Public Health, Taipei Medical University, Taipei, Taiwan, R.O.C.

The Ph.D. Program for Translational Medicine, College of Medical Science and Technology, Taipei Medical University, Taipei, Taiwan, R.O.C.

出版信息

Anticancer Res. 2018 Oct;38(10):5983-5990. doi: 10.21873/anticanres.12946.

DOI:10.21873/anticanres.12946

PMID:30275229

Abstract

BACKGROUND/AIM: Epidermal growth factor receptor (EGFR), mothers against decapentaplegic homolog 7 (SMAD7) and transforming growth factor betta (TGFB) are crucial for colorectal cancer (CRC) tumorigenesis. This study investigated whether polymorphisms in EGFR, SMAD7, and TGFB are associated with CRC risk in patients with Lynch syndrome.

MATERIALS AND METHODS

Genotyping was performed using Sequenom iPLEX MassArray. Association between genetic polymorphisms and CRC was assessed using a weighted Cox proportional hazard model.

RESULTS

Patients carrying the AA genotype of EGFR rs2227983 had a significantly higher CRC risk than those carrying the G allele (HR=2.55, 95% CI=1.25-5.17). The dominant model of SMAD7 rs12953717 (CT + TT genotypes) significantly increased CRC risk (HR=2.17, 95% CI=1.12-4.16) when compared to the wild-type CC genotype. Similarly, the GG genotype of TGFBR2 rs6785358 significantly increased the risk of CRC (HR=21.1, 95% CI=5.06-88.1) compared to the AA genotype.

CONCLUSION

EGFR, SMAD7, and TGFBR2 are associated with CRC risk in patients with Lynch syndrome.

摘要

背景/目的：表皮生长因子受体（EGFR）、抗五聚体瘫痪同源蛋白7（SMAD7）和转化生长因子β（TGFB）对结直肠癌（CRC）的肿瘤发生至关重要。本研究调查了EGFR、SMAD7和TGFB基因多态性是否与林奇综合征患者的CRC风险相关。

材料与方法

采用Sequenom iPLEX MassArray进行基因分型。使用加权Cox比例风险模型评估基因多态性与CRC之间的关联。

结果

携带EGFR rs2227983的AA基因型患者的CRC风险显著高于携带G等位基因的患者（HR=2.55，95%CI=1.25-5.17）。与野生型CC基因型相比，SMAD7 rs12953717的显性模型（CT+TT基因型）显著增加CRC风险（HR=2.17，95%CI=1.12-4.16）。同样，与AA基因型相比，TGFBR2 rs6785358的GG基因型显著增加CRC风险（HR=21.1，95%CI=5.06-88.1）。