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Table 1 Individuals with two C9orf72 intermediate-length alleles in ALS, FTD, FTD spectrum, PD and AD patients, and controls after exclusion of expansion carriers

From: Letter to the editor on a paper by Kaivola et al. (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic lateral sclerosis or frontotemporal dementia

Trait Shorter/longer allele Controls with longer alleles (%) Cases with longer alleles (%) p-value OR [95% CI]
ALS  < 7/ < 7 vs. = > 7/ = > 7 546 (5.7%) 132 (6.4%) 0.97 0.99 [0.76–1.31]
 < 7/ < 7 vs. 7–16/7–16 500 (5.3%) 121 (5.9%) 0.88 0.98 [0.74–1.30]
 < 7/ < 7 vs. = > 7/ = > 17–45 46 (0.5%) 11 (0.5%) 0.60 1.28 [0.51–3.23]
FTD  < 7/ < 7 vs. = > 7/ = > 7 546 (5.7%) 71 (7%) 0.99 1.00 [0.72–1.39]
 < 7/ < 7 vs. 7–16/7–16 500 (5.3%) 64 (6.3%) 0.96 0.99 [0.70–1.40]
 < 7/ < 7 vs. = > 7/ = > 17–45 46 (0.5%) 7 (0.7%) 0.86 1.09 [0.40–3.00]
FTD spectrum  < 7/ < 7 vs. = > 7/ = > 7 546 (5.7%) 217 (6.6%) 0.86 0.98 [0.79–1.22]
 < 7/ < 7 vs. 7–16/7–16 500 (5.3%) 199 (6.1%) 0.81 0.97 [0.78–1.22]
 < 7/ < 7 vs. = > 7/ = > 17–45 46 (0.5%) 18 (0.5%) 0.90 1.05 [0.50–2.20]
PD  < 7/ < 7 vs. = > 7/ = > 7 546 (5.7%) 22 (7%) 0.94 1.02 [0.59–1.76]
 < 7/ < 7 vs. 7–16/7–16 500 (5.3%) 21 (6.7%) 0.73 1.10 [0.63–1.94]
 < 7/ < 7 vs. = > 7/ = > 17–45 46 (0.5%) 1 (0.3%) 0.41 0.41 [0.05–3.50]
AD  < 7/ < 7 vs. = > 7/ = > 7 546 (5.7%) 67 (6.8%) 0.48 0.88 [0.60–1.27]
 < 7/ < 7 vs. 7–16/7–16 500 (5.3%) 60 (6.1%) 0.45 0.86 [0.58–1.27]
 < 7/ < 7 vs. = > 7/ = > 17–45 46 (0.5%) 7 (0.7%) 0.99 1.00 [0.33–3.02]
  1. ALS Amyotrophic lateral sclerosis, FTD Frontotemporal dementia, FTD spectrum includes bvFTD, primary progressive aphasia, corticobasal degeneration and progressive supra nuclear palsy, PD Parkinson’s disease, AD Alzheimer’s disease OR Odds ratio, CI Confidence interval, N.A not applicable