Department of Medical Laboratory Sciences, School of Paramedical Science, Shiraz University of Medical Sciences, Shiraz, Iran.
Department of Advanced Medical Sciences and Technologies, Islamic Azad University, Science and Research Branch, Tehran, Iran.
J Gastrointest Cancer. 2022 Mar;53(1):78-83. doi: 10.1007/s12029-020-00551-4. Epub 2020 Nov 12.
Genetic polymorphisms play an important role in the development of colorectal cancer (CRC). Functional variants in the epidermal growth factor (EGF), survivin, and Ephrin A1 (EFNA1) genes have been previously reported to play a potential role in susceptibility to CRC, but these polymorphisms have not been well replicated. The aim of this study was to assess the association of the EGF 61A>G, Survivin -31G>C, and EFNA1 -1732G>A polymorphisms with the susceptibility to CRC in an Iranian population.
A total of 148 cases diagnosed with CRC and 160 healthy subjects were recruited. The EGF 61A>G, survivin -31G>C, and EFNA1 -1732G>A polymorphisms were genotyped using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay.
Our data revealed that the homozygous mutant genotype (CC: OR = 2.895, 95% CI = 1.092-7.673, p = 0.033) and mutant allele (C: OR = 1.629, 95% CI = 1.152-2.303, p = 0.006) of the survivin -31G>C were associated with an increased risk of CRC in the Iranian population. However, our results failed to show an association between the EGF 61A>G and EFNA1 -1732G>A polymorphisms and CRC risk.
Our results revealed that the survivin -31G>C polymorphism might play an important role in development of CRC in Iranian population. However, no association of EGF 61A>G and EFNA1 -1732G>A polymorphisms with CRC risk was found.
遗传多态性在结直肠癌(CRC)的发展中起着重要作用。表皮生长因子(EGF)、生存素和 Ephrin A1(EFNA1)基因中的功能变体先前已被报道在 CRC 的易感性中发挥潜在作用,但这些多态性尚未得到很好的复制。本研究旨在评估 EGF 61A>G、生存素-31G>C 和 EFNA1-1732G>A 多态性与伊朗人群 CRC 易感性的关联。
共招募了 148 例 CRC 患者和 160 例健康对照。使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析检测 EGF 61A>G、生存素-31G>C 和 EFNA1-1732G>A 多态性。
我们的数据显示,生存素-31G>C 的纯合突变基因型(CC:OR=2.895,95%CI=1.092-7.673,p=0.033)和突变等位基因(C:OR=1.629,95%CI=1.152-2.303,p=0.006)与伊朗人群 CRC 风险增加相关。然而,我们的结果未能显示 EGF 61A>G 和 EFNA1-1732G>A 多态性与 CRC 风险之间存在关联。
我们的结果表明,生存素-31G>C 多态性可能在伊朗人群 CRC 的发生发展中起重要作用。然而,未发现 EGF 61A>G 和 EFNA1-1732G>A 多态性与 CRC 风险相关。