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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2009

Open Access 01-12-2009 | Research article

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

Authors: Bin Zhou, Li Rao, Ying Peng, Yanyun Wang, Yi Li, Linbo Gao, Yu Chen, Hui Xue, Yaping Song, Miao Liao, Lin Zhang

Published in: BMC Medical Genetics | Issue 1/2009

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Abstract

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 ATTG2 carrier (ATTG1/ATTG2 + ATTG2/ATTG2) was susceptible to DCM.

Conclusion

Our data suggested that NFKB1 -94 insertion/deletion ATTG polymorphism is associated with DCM.
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Metadata
Title
Functional polymorphism of the NFKB1 gene promoter is related to the risk of dilated cardiomyopathy
Authors
Bin Zhou
Li Rao
Ying Peng
Yanyun Wang
Yi Li
Linbo Gao
Yu Chen
Hui Xue
Yaping Song
Miao Liao
Lin Zhang
Publication date
01-12-2009
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2009
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/1471-2350-10-47

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