Zhou Bin, Rao Li, Peng Ying, Wang Yanyun, Li Yi, Gao Linbo, Chen Yu, Xue Hui, Song Yaping, Liao Miao, Zhang Lin
Laboratory of Molecular Translational Medicine, West China Second University Hospital, Sichuan University, Chengdu, PR China.
BMC Med Genet. 2009 May 31;10:47. doi: 10.1186/1471-2350-10-47.
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).
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.
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.
Our data suggested that NFKB1 -94 insertion/deletion ATTG polymorphism is associated with DCM.
先前在实验性和人类心力衰竭中的研究表明，核因子κB（NF-κB）在心肌细胞中被长期激活，提示NF-κB在心脏重塑过程中起重要作用。在NFKB1基因的两个假定关键启动子调控元件之间鉴定出一个常见的插入/缺失（-94插入/缺失ATTG，rs28362491），这似乎是首个潜在的功能性NFKB1基因变异。本研究的主要目的是探讨NFKB1 -94插入/缺失ATTG多态性与扩张型心肌病（DCM）风险的关系。
共成功研究了177例DCM患者和203例对照受试者。采用PCR-PAGE对NFKB1 -94插入/缺失ATTG多态性进行基因分型。
DCM患者中NFKB1 -94插入/缺失ATTG多态性的基因型频率与对照受试者显著不同（P = 0.015），且ATTG2携带者（ATTG1/ATTG2 + ATTG2/ATTG2）易患DCM。
我们的数据表明，NFKB1 -94插入/缺失ATTG多态性与DCM相关。
