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Correlation between the EGF gene intronic polymorphism, rs2298979, and colorectal cancer

机译：EGF基因内含子多态性，rs2298979与结直肠癌之间的相关性

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摘要

Colorectal cancer (CRC) is an important disorder that results from genetic and epigenetic alterations in one colonic epithelial cell. Epidermal growth factor (EGF) is critical in the development of tumors in epithelial tissues. Variations in the DNA sequence of the EGF gene may be particularly significant with regard to susceptibility to CRC. The present study aimed to investigate the effect of the EGF gene single nucleotide polymorphism (SNP), rs2298979, on CRC. In this prospective study, 220 samples were collected from patients with CRC and compared with 220 matched healthy controls. Genotyping was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, and the result was validated by direct sequencing. A significant correlation was observed between the rs2298979 variant in the EGF gene and CRC. The frequency of the A/G genotype in the control group was higher than in the patients with sporadic CRC [odds ratio (OR), 0.488 95% confidence interval (CI), 0.307-0.774 P=0.002]. In this study there were no individuals with a G/G genotype. Although the frequency of the G and A alleles was similar in the healthy control and CRC patient groups, individuals with the A/G genotype were less susceptible to CRC compared with those with the A/A genotype.
机译：大肠癌（CRC）是一种重要的疾病，是由一个结肠上皮细胞的遗传和表观遗传学改变引起的。表皮生长因子（EGF）在上皮组织肿瘤的发展中至关重要。就对CRC的敏感性而言，EGF基因的DNA序列的变化可能特别重要。本研究旨在研究EGF基因单核苷酸多态性（SNP）rs2298979对CRC的影响。在这项前瞻性研究中，从CRC患者中收集了220个样本，并与220个匹配的健康对照进行了比较。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法进行基因分型，并通过直接测序验证了结果。观察到EGF基因中的rs2298979变体与CRC之间存在显着相关性。对照组中A / G基因型的频率高于散发CRC的患者[几率（OR），0.488 95％置信区间（CI），0.307-0.774 P = 0.002]。在这项研究中，没有个体具有G / G基因型。尽管在健康对照组和CRC患者组中G和A等位基因的频率相似，但与A / A基因型相比，具有A / G基因型的个体对CRC的敏感性较低。

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