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Table 1 Differently Maternal DNA methylation patterns and congenital heart defects

From: The role of DNA methylation in syndromic and non-syndromic congenital heart disease

Study (reference)

Study population Sample type

Cohort

Sample size

Methylation measures

DNA methylation change

[74]

Mothers, Blood

non-syndromic CHD

Case: 180, Control:187

Methylation of LINE-1 assessed with Methylight was used as a surrogate marker of global DNA methylation status

LINE-1 DNA methylation was significantly lower in cases compared with controls ( P  = 0.049)

[76]

Mothers, Blood

CHD with Down syndrome

Case: 44, Control: 46

LINE-1 DNA methylation was analyzed by quantification of LINE-1 methylation using the MethyLight method

LINE-1 methylation was not significantly different between DS-CHD + and DS-CHD − mothers (P = 0.997)

[77]

Mothers, Blood

non-syndromic CHD

Case: 180, Control:187

Maternal gene specific methylation in over 27,000 CpG sites was assessed using the Illumina Infinium Human Methylation27 BeadChip

425 CpG sites encompassing 415 genes were differentially methylated between cases and controls (P < 0.005). The majority of differentially methylated CpG sites were hypermethylated in cases