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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