%0 Journal Article
%T LINE-1 methylation status and its association with tetralogy of fallot in infants
%A Wei Sheng
%A Jun H Wang
%A Jing X Ma
%A Yan Y Qian
%A Ping Zhang
%A Yao Wu
%A Yun F Zheng
%A Long Chen
%A Ying G Huang
%A Duan Ma
%J BMC Medical Genomics
%D 2012
%I BioMed Central
%R 10.1186/1755-8794-5-20
%X Genomic DNA from right ventricular tissue samples was obtained from 32 patients with TOF and 15 control subjects. Sequenom MassARRAY platform was performed to examine the methylation levels of LINE-1, NKX2-5, HAND1 and TBX20. Mann每Whitney U test was used to compare differences in methylation levels between two groups.The methylation level of LINE-1 was significantly lower in patients with TOF, with a median of 57.95% (interquartile range [IQR]: 56.10%每60.04%), as opposed to 59.70% in controls (IQR: 59.00%每61.30%; Pˋ=ˋ0.0021). The highest LINE-1 methylation level was 61.3%. The risk of TOF increased in subjects with the lowest methylation levels (less than or equal to 59.0%; ORˋ=ˋ14.7, 95% CI: 1.8每117.7, Pˋ=ˋ0.014) and in those with medium methylation levels (59.0%每61.3%; ORˋ=ˋ2.0, 95% CI: 0.3每14.2, Pˋ=ˋ0.65). An ROC curve analysis showed a relatively high accuracy of using the LINE-1 methylation level in predicting the presence of TOF (AUCˋ=ˋ0.78, 95% CI: 0.65每0.91; Pˋ=ˋ0.002). The association of the LINE-1 methylation level with TOF was only observed in males (Pˋ=ˋ0.006) and not in females (Pˋ=ˋ0.25). Neither age nor gender was found to be associated with the LINE-1 methylation level in patients or controls. Higher methylation levels of NKX2-5 and HAND1 and lower methylation levels of TBX20 were also observed in patients with TOF than in controls. No association was found between the methylation levels of NKX2-5, HAND1 and TBX 20 with the LINE-1 methylation level.Lower LINE-1 methylation levels are associated with increased risk of TOF and may provide important clues for the development of TOF.
%K LINE-1 methylation
%K Tetralogy of fallot
%K Infants
%U http://www.biomedcentral.com/1755-8794/5/20/abstract