Association of NF-κB1 gene polymorphisms with coronary artery disease in a Han Chinese population

Nuclear factor (NF)-kappa B is a transcription factor that controls cell proliferation, differentiation, and immunity. Activated NF-kappa B1 is associated with the pathogenesis of coronary artery disease (CAD) and genetic polymorphisms in NF-kappa B1 have a plausible role in modulating the risk of CAD. To identify markers that contribute to the genetic susceptibility to CAD, we examined the potential association between CAD and single nucleotide polymorphisms (SNPs; rs28362491, rs230531, rs230528, rs1005819, rs4648055, rs3774964, and rs3774968) in the NF-kappa B1 gene using SNaPshot SNP genotyping assay. Participants included 361 patients with CAD and 385 healthy controls. The genotype and allele frequencies of the rs28362491 (promoter region) polymorphism in the CAD patients were significantly different from those in the healthy controls. The frequency of the D allele was significantly higher in CAD patients than in the healthy controls (P = 0.005 after Bonferroni correction). Strong linkage disequilibrium was observed in one block (D' > 0.9). Haplotype analysis revealed that haplotypes in block 1 of the NF-kappa B1 gene did not display a risk or protective effect (P > 0.05). These data suggest that NF-kappa B1 gene polymorphisms confer susceptibility to CAD and also support the notion that dysfunction of NF-kappa B1 is involved in the pathophysiological process of CAD.