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Table 2 Methylation profiles of the CCDC163/MMACHC locus in epi-cblC subjects harbouring the heterozygous PRDX1:c.515-1G > T variant and controls

From: PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations

CpG probe

Chr

Positiona

CpG island CpG:33

Mean

β-value, epi-cblC

Mean

β-value, controls

t-test, P-value

t-test, Bonf. P-value

t-test, FDR P-value

Smoothed

t-test, P-value

cg03123370

1

45965343

5' end of the CpG:33

0.51

0.11

1.43 × 10–133

6.46 × 10–128

1.69 × 10–130

1.66 × 10–100

cg04700938

1

45965449

5' end of the CpG:33

0.44

0.06

4.98 × 10–130

2.25 × 10–124

5.16 × 10–127

6.92 × 10–109

cg13848568

1

45965625

Inside CpG:33

0.36

0.04

3.54 × 10–105

1.60 × 10–99

1.61 × 10–102

2.02 × 10–131

cg00081251

1

45965679

Inside CpG:33

0.51

0.07

5.99 × 10–148

2.71 × 10–142

1.09 × 10–144

1.12 × 10–149

cg09323228

1

45965727

Inside CpG:33

0.57

0.05

2.02 × 10–203

9.15 × 10–198

1.58 × 10–199

7.37 × 10–157

cg27393325

1

45965846

Inside CpG:33

0.56

0.02

7.18 × 10–194

3.25 × 10–188

4.57 × 10–190

2.53 × 10–169

cg22536808

1

45965870

Inside CpG:33

0.40

0.00

1.03 × 10–133

4.68 × 10–128

1.24 × 10–130

8.75 × 10–182

cg14836864

1

45965990

Inside CpG:33

0.49

0.03

7.49 × 10–184

3.39 × 10–178

3.49 × 10–180

8.89 × 10–161

cg03108114

1

45966048

Inside CpG:33

0.59

0.02

2.77 × 10–217

1.25 × 10–211

2.73 × 10–213

7.94 × 10–132

cg15896098

1

45966115

3' end of the CpG:33

0.56

0.03

2.11 × 10–192

9.54 × 10–187

1.29 × 10–188

2.67 × 10–105

  1. Chr, chromosome; Bonf, Bonferroni; FDR, false discovery rate
  2. aPosition according to CRCh37