Gao Lin-Bo, Zhou Bin, Zhang Lin, Wei Ye-Sheng, Wang Yan-Yun, Liang Wei-Bo, Lv Mei-Li, Pan Xin-Min, Chen Yu-Cheng, Rao Li
Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, Sichuan, PR China.
BMC Med Genet. 2008 Jul 30;9:74. doi: 10.1186/1471-2350-9-74.
Previous studies suggested that genetic polymorphisms in the epidermal growth factor receptor (EGFR) gene had been implicated in the susceptibility to some tumors and inflammatory diseases. EGFR has been recently implicated in vascular pathophysiological processes associated with excessive remodeling and atherosclerosis. Acute coronary syndrome (ACS) is a clinical manifestation of preceding atherosclerosis. Our purpose was to investigate the association of the EGFR polymorphism with the risk of ACS. In this context, we analyzed the HER-1 R497K and EGFR intron 1 (CA)n repeat polymorphisms in 191 patients with ACS and 210 age- and sex-matched controls in a Chinese population, using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy and direct sequencing.
There were significant differences in the genotype and allele distribution of R497K polymorphism of the EGFR gene between cases and controls. The Lys allele had a significantly increased risk of ACS compared with the Arg allele (adjusted OR = 1.49, 95% CI: 1.12-1.98, adjusted P = 0.006). However, no significant relationship between the number of (CA)n repeats of EGFR intron 1 (both alleles < 20 or any allele > or = 20) and the risk of ACS was observed (adjusted OR = 0.97, 95% CI: 0.58-1.64, adjusted P = 0.911). Considering these two polymorphisms together, there was no statistically significant difference between the two groups.
R497K polymorphism of the EGFR gene is significantly associated with the risk of ACS. Our data suggests that R497K polymorphism may be used as a genetic susceptibility marker of the ACS.
既往研究表明，表皮生长因子受体（EGFR）基因的遗传多态性与某些肿瘤及炎症性疾病的易感性有关。最近有研究表明，EGFR参与了与过度重塑和动脉粥样硬化相关的血管病理生理过程。急性冠状动脉综合征（ACS）是前期动脉粥样硬化的一种临床表现。我们的目的是研究EGFR基因多态性与ACS风险之间的关联。在此背景下，我们采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）策略和直接测序法，分析了191例ACS患者及210例年龄和性别匹配的对照者的HER-1 R497K和EGFR第1内含子（CA）n重复序列多态性。
EGFR基因R497K多态性的基因型和等位基因分布在病例组和对照组之间存在显著差异。与Arg等位基因相比，Lys等位基因使ACS风险显著增加（校正OR = 1.49，95%CI：1.12 - 1.98，校正P = 0.006）。然而，未观察到EGFR第1内含子（CA）n重复序列的数量（两个等位基因均<20或任何一个等位基因>或 = 20）与ACS风险之间存在显著关系（校正OR = 0.97，95%CI：0.58 - 1.64，校正P = 0.911）。综合考虑这两种多态性，两组之间无统计学显著差异。
EGFR基因的R497K多态性与ACS风险显著相关。我们的数据表明，R497K多态性可能作为ACS的遗传易感性标志物。
