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Background  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.    Results  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 ≥ 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.    Conclusion  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.

R497K polymorphism in epidermal growth factor receptor gene is associated with the risk of acute coronary syndrome