Table 3.
Expression of C9ORF72 transcripts using NanoString technologies
| NanoString |
C9Plus versus C9Minus cohort |
C9Plus versus Control cohort |
|||||
|---|---|---|---|---|---|---|---|
| Group | p valuea | C9Plus | C9Minus | p value | C9Plus | Control | p value |
| Cerebellum | |||||||
| Total | 1.18e-07 | 0.58 (0.42–0.76) | 0.80 (0.67–0.93) | 0.003 | 0.58 (0.42–0.76) | 1.00 (0.88–1.19) | 1.59e-07 |
| Variant 1 | 9.45e-06 | 0.47 (0.31–0.63) | 0.61 (0.55–0.75) | 0.01 | 0.47 (0.31–0.63) | 1.00 (0.72–1.49) | 9.04e-06 |
| Variant 2 | 2.19e-12 | 0.31 (0.19–0.47) | 0.70 (0.55–0.90) | 7.27e-07 | 0.31 (0.19–0.47) | 1.00 (0.87–1.13) | 5.23e-10 |
| Intron 1a | 0.20 | 1.08 (0.50–1.86) | 0.76 (0.26–1.40) | – | 1.08 (0.50–1.86) | 1.00 (0.44–1.88) | – |
| Intron 1b | 0.91 | 1.00 (0.66–1.59) | 0.98 (0.55–1.50) | – | 1.00 (0.66–1.59) | 1.00 (0.66–1.57) | – |
| Frontal cortex | |||||||
| Total | 3.44e-11 | 0.72 (0.62–0.83) | 1.13 (1.04–1.34) | 1.42e-09 | 0.72 (0.62–0.83) | 1.00 (0.90–1.18) | 2.35e-06 |
| Variant 1 | 3.86e-05 | 0.69 (0.49–0.90) | 1.10 (0.88–1.38) | 0.0001 | 0.69 (0.49–0.90) | 1.00 (0.78–1.39) | 0.001 |
| Variant 2 | 1.04e-12 | 0.53 (0.34–0.63) | 1.21 (0.94–1.43) | 1.84e-08 | 0.53 (0.34–0.63) | 1.00 (0.90–1.31) | 5.07e-10 |
| Intron 1a | 0.0002 | 2.72 (0.98–4.81) | 0.00 (0.00–1.08) | 0.0005 | 2.72 (0.98–4.81) | 1.00 (0.00–2.34) | 0.003 |
| Intron 1b | 0.11 | 1.57 (0.96–2.36) | 1.24 (0.44–2.10) | – | 1.57 (0.96–2.36) | 1.00 (0.37–1.74) | – |
Data are sample median (IQR) or p value and obtained using NanoString technologies; normalized to the geometric mean of synaptophysin (SYP) and microtubule-associated protein 2 (MAP2). For simplicity, only comparisons with C9ORF72 expansion carriers are shown, an extended version of this table is displayed in Online Resource Table 5. Information was obtained for patients with (C9Plus) and without (C9Minus) expansions in C9ORF72, as well as for control subjects (Control). For each brain region, five tests were performed (i.e., total C9ORF72 transcripts, variant 1 transcripts, variant 2 transcripts, intron 1a containing transcripts, and intron 1b containing transcripts), and thus, p values below 0.010 (bold) were considered significant after Bonferroni correction
A Kruskal–Wallis rank sum test was performed to determine whether expression levels differed between groups (p < 0.010 considered significant after Bonferroni correction); when significant differences were detected a Wilcoxon rank sum test was used for pairwise comparisons (p < 0.017 considered significant after Bonferroni correction); when no significant differences were detected a Wilcoxon a rank sum test was not performed for pairwise comparisons (indicated with “–”)