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
| 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 | ||||||