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Table 2 Methylation and expression levels of C9orf72

From: Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

VariableC9PlusC9MinusControlGroupsaC9Plus vs C9MinusbC9Plus vs ControlbC9Minus vs Controlb
Methylation, median (IQR), %4.05 (1.10–17.95)0.24 (0.15–0.33)0.46 (0.14–0.75)4.45e-151.70e-133.33e-070.17
Total, median (IQR), %73.32 (65.96–86.20)110.70 (93.68–132.88)100.00 (87.48–111.27)2.06e-073.67e-079.08e-050.13
Variant 1, median (IQR), %55.66 (48.14–72.82)80.10 (70.31–94.64)100.00 (74.87–110.67)1.07e-052.83e-043.65e-050.06
Variant 2, median (IQR), %61.97 (55.23–73.67)104.75 (85.86–139.38)100.00 (90.04–120.12)9.66e-083.43e-071.10e-050.76
Intron 1a, median (IQR), %411.20 (244.09–637.62)263.06 (103.15–398.10)100.00 (37.09–290.55)8.40e-040.014.03e-040.13
Intron 1b, median (IQR), %61.18 (54.37–90.30)98.61 (75.58–109.73)100.00 (67.11–130.03)0.0030.0020.010.48
  1. C9Plus patients with a C9orf72 repeat expansion, C9Minus patients without this expansion, Control control subjects without a neurodegenerative disease, IQR interquartile range
  2. aA Kruskal-Wallis rank sum test is performed to determine whether a significant difference exists between groups for each of the six variables: levels of C9orf72 promoter methylation (Methylation), total C9orf72 transcripts (Total), variant 1 transcripts (Variant 1), variant 2 transcripts (Variant 2), intron 1a containing transcripts (Intron 1a), and intron 1b containing transcripts (Intron 1b; p < 0.008 is considered significant after Bonferroni correction)
  3. bA Wilcoxon rank sum test is used when the Kruskal-Wallis test is significant for each of the three pairwise comparisons: C9Plus vs C9Minus, C9Plus vs Control, and C9Minus vs Control (p < 0.017 is considered significant after Bonferroni correction)