Functional polymorphism of the NFKB1 gene promoter is related to the risk of dilated cardiomyopathy

BACKGROUND: Previous studies in experimental and human heart failure showed that nuclear factor kappa B (NF-κB) is chronically activated in cardiac myocytes, suggesting an important involvement of NF-κB in the cardiac remodeling process. A common insertion/deletion (-94 insertion/deletion ATTG, rs28362491) located between two putative key promoter regulatory elements in the NFKB1 gene was identified which seems to be the first potential functional NFKB1 genetic variation. The main goal of the present investigation was to investigate the NFKB1 -94 insertion/deletion ATTG polymorphism in relation to risk of dilated cardiomyopathy (DCM). METHODS: A total of 177 DCM patients and 203 control subjects were successfully investigated. The NFKB1 -94 insertion/deletion ATTG polymorphism was genotyped by using PCR-PAGE. RESULTS: Genotype frequency of NFKB1 -94 insertion/deletion ATTG polymorphism in DCM patients was significantly different from that in control subjects (P = 0.015) and the ATTG(2 )carrier (ATTG(1)/ATTG(2 )+ ATTG(2)/ATTG(2)) was susceptible to DCM. CONCLUSION: Our data suggested that NFKB1 -94 insertion/deletion ATTG polymorphism is associated with DCM.