title: Functional polymorphism of the NFKB1 gene promoter is related to the risk of dilated cardiomyopathy.
abstract: 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.
authors.affiliation: Laboratory of Molecular Translational Medicine, West China Second University Hospital, Sichuan University, Chengdu, PR China. zb630@163.com
authors.forename: Bin
authors.initials: B
authors.lastname: Zhou
authors.forename: Li
authors.initials: L
authors.lastname: Rao
authors.forename: Ying
authors.initials: Y
authors.lastname: Peng
authors.forename: Yanyun
authors.initials: Y
authors.lastname: Wang
authors.forename: Yi
authors.initials: Y
authors.lastname: Li
authors.forename: Linbo
authors.initials: L
authors.lastname: Gao
authors.forename: Yu
authors.initials: Y
authors.lastname: Chen
authors.forename: Hui
authors.initials: H
authors.lastname: Xue
authors.forename: Yaping
authors.initials: Y
authors.lastname: Song
authors.forename: Miao
authors.initials: M
authors.lastname: Liao
authors.forename: Lin
authors.initials: L
authors.lastname: Zhang
mesh_terms: 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
chemical_list: D052002:NF-kappa B p50 Subunit; C489548:NFKB1 protein, human