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-kappaB) is chronically activated in cardiac myocytes, suggesting an important involvement of NF-kappaB 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 ATTG2 carrier (ATTG1/ATTG2 + ATTG2/ATTG2) was susceptible to DCM.


CONCLUSIONS
Our data suggested that NFKB1 -94 insertion/deletion ATTG polymorphism is associated with DCM.
Zhou
Bin
B
Laboratory of Molecular Translational Medicine, West China Second University Hospital, Sichuan University, Chengdu, PR China. zb630@163.com
Rao
Li
L
Peng
Ying
Y
Wang
Yanyun
Y
Li
Yi
Y
Gao
Linbo
L
Chen
Yu
Y
Xue
Hui
H
Song
Yaping
Y
Liao
Miao
M
Zhang
Lin
L
D000483:Alleles; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D005838:Genotype; D006801:Humans; D016254:Mutagenesis, Insertional; D052002:NF-kappa B p50 Subunit / Q000235:genetics*; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D012307:Risk Factors; D017384:Sequence Deletion
D052002:NF-kappa B p50 Subunit; C489548:NFKB1 protein, human