Epigenome wide comparison of DNA methylation profile between paired umbilical cord blood and neonatal blood on Guthrie cards

Figures & data

Table 1. Summary of the demographics for the original birth cohort and analytical sample.

	Original birth cohort	Analytical sample with DNAm
	n = 531	n = 34	p-value
Gestational Age (week)	38.51 (9.97)	39.09 (2.02)	0.1085
Gender (Boy); n(%)	281 (53.63%)	17 (51.52%)	0.8075
Mother’s age (years)	24.32 (3.70)	23.55 (1.35)	0.0025
Father’s age (years)	26.87 (4.48)	26.17 (4.39)	0.4012
Maternal Smoking; n (%)
Yes	164 (33.33%)	15 (46.88%)	0.1041
No	328 (66.67%)	17 (53.13%)

Table 2. Summary of the number and percentage of overall agreed, consistent and stable CpGs between DNAm of Cord blood and Guthrie Card among all the CpGs in the study (n = 430,647).

	Number of CpG (%)
Overall Agreement
Based on paired t test to compare the means	301,935 (70.1%)
Consistency
Correlation cut-off for consistency
≥0.3	33,513 (7.8%)
≥0.5	94,293 (21.9%)
Stability
ICC cut-off for stability
≥0.5	25,800 (6.0%)
≥0.6	15,810 (3.7%)

Figure 1. Overlap of identified overall agreed CpGs (P-value after adjusted by FDR>0.05, dark grey), consistent CpGs (Pearson correlation ≥0.5, white) and stable CpGs (ICC≥ 0.5, light grey).

Figure 2. Summary of identified (a) CpGs that are overall agreed on the mean, (b) consistent CpGs, and (c) stable CpGs within each category of gene position. Each percentage was calculated as the number of identified CpGs divided by the total number of CpGs in that region.

Figure 3. Summary of identified (a) CpGs that are overall agreed on the mean, (b) consistent CpGs, and (c) stable CpGs within each category of relation to CpG islands. Each percentage was calculated as the number of identified CpGs divided by the total number of CpGs in that region.