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Table 1 Meta-analyses on the influence of C9orf72 24–30 repeat-long expansions on the risk of ALS. (A) Replication of the previously published meta-analysis (Y. Chen et al.). (B) Adding our British dataset to the 4 used in Y. Chen et al. (C) Adding our British/ADNI dataset to the 4 used in Y. Chen et al

From: C9orf72 intermediate expansions of 24–30 repeats are associated with ALS

  N. of samples 24–30 repeats
Cases/Controls
Total N. of samples
Cases/Controls
OR 95% Conf. Interval % Weight Fixed/Random
A - Y. Chen et al. meta-analysis datasets
Garcia-Redondo et al. 1/0 781/248 0.95 0.04 23.52 32.8/22.7
Ratti et al. 1/0 1275/862 2.03 0.08 49.89 25.8/22.7
Rutherford et al. 3/0 995/1444 10.19 0.53 197.45 17.6/26.5
Millecamps et al. 6/0 725/580 10.19 0.59 186.57 23.8/28.1
M-H pooled (fixed-effect) 11/0 3776/3134 5.13 1.18 22.24 100.0
M-H pooled (random-effects) 11/0 3776/3134 4.16 0.90 19.14 100.0
Heterogeneity chi-squared Q = 1.82 (d.f. = 3) p = 0.61, power = 12.07%
I-squared (variation in OR attributable to heterogeneity) = 0.0% (0.0–74.8%)
Fixed-effect Test of OR = 5.13: z = 2.18 p = 0.03
Random-effects Test of OR = 4.16: z = 1.83 p = 0.07
B - Y. Chen et al. meta-analysis datasets + our British dataset
Garcia-Redondo et al. 1/0 781/248 0.95 0.04 23.52 19.5/14.7
Ratti et al. 1/0 1275/862 2.03 0.08 49.89 15.3/14.7
Rutherford et al. 3/0 995/1444 10.19 0.53 197.45 10.5/17.2
Millecamps et al. 6/0 725/580 10.49 0.59 186.57 14.2/18.2
British dataset 9/1 1295/340 2.37 0.30 18.79 40.5/35.2
M-H pooled (fixed-effect) 20/1 5071/3474 4.01 1.21 13.26 100.0
M-H pooled (random-effects) 20/1 5071/3474 3.41 1.00 11.66 100.0
Heterogeneity chi-squared Q = 2.00 (d.f. = 4), p = 0.74, power = 12.83%
I-squared (variation in OR attributable to heterogeneity) = 0.0% (0.0–58.4%
Fixed-effect Test of OR = 4.01: z = 2.28 p = 0.02
Random-effects Test of OR = 3.41: z = 1.96 p = 0.05
C - Y. Chen et al. meta-analysis datasets + our British/ADNI dataset
Garcia-Redondo et al. 1/0 781/248 0.95 0.04 23.52 20.7/14.7
Ratti et al. 1/0 1275/862 2.03 0.08 49.89 16.3/14.7
Rutherford et al. 3/0 995/1444 10.19 0.53 197.45 11.1/17.2
Millecamps et al. 6/0 725/580 10.49 0.59 186.57 15.0/18.2
British/ADNI dataset 9/1 1295/613 4.28 0.54 33.88 36.9/35.2
M-H pooled (fixed-effect) 20/1 5071/3747 4.82 1.45 15.96 100.0
M-H pooled (random-effects) 20/1 5071/3747 4.20 1.23 14.35 100.0
Heterogeneity chi-squared Q = 1.80 (d.f. = 4), p = 0.77, power = 13.01%
I-squared (variation in OR attributable to heterogeneity) = 0.0% (0.0–53.7%)
Fixed-effect Test of OR = 4.82: z = 2.57 p = 0.01
Random-effects Test of OR = 4.20: z = 2.29 p = 0.02