Excision repair cross-complementing 1 (ERCC1) gene encodes ERCC1
protein, which is mainly responsible for the repair of DNA damage in different diseases including coronary artery
atherosclerosis by acting as a rate-limiting
element in nucleotide excision repair (NER). Using a three-stage case-control study with 3037
coronary artery disease (CAD) patients and 3002 controls, we investigated associations of three single nucleotide polymorphisms (SNPs) with CAD risk and severity of coronary artery
atherosclerosis in Chinese Han population. In the discovery set, the variant allele T of rs11615 was significantly associated with higher CAD risk (adjusted OR = 1.27, P = 0.006) and severity of coronary artery
atherosclerosis (adjusted OR = 1.54, P = 0.003). These associations were more remarkable in the merged set (adjusted OR = 1.23, P = 8 × 10-6 for CAD risk; adjusted OR = 1.36, P = 4.3 × 10-5 for severity of coronary artery
atherosclerosis). And the expression level of ERCC1 was significantly higher in CAD cases than controls. Multiplicative interactions among SNP rs11615, alcohol drinking, history of T2DM, and history of
hyperlipidemia could increase 5.06-fold risk of CAD (P = 1.59 × 10-9). No significant association of rs2298881 and rs3212986 with CAD risk was identified. Taken together, SNP rs11615 in ERCC1 gene might confer susceptibility to CAD and severity of
coronary atherosclerosis in a Chinese Han population.