Table 1.
Allelic distribution of C9orf72 alleles in our cohort and in other cohorts.
| Our cohort | UK controls (23) | England, Scotland, and Wales controls (31) | Multiethnic population (Europe, USA, Australia, Singapore, Japan) (32) | ADNI controls (23) | Finnish controls (27) | Ashkenazi Jewish (33) | Moroccan Jewish (33) | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Units | Number of alleles | Percentage | Number of alleles | Percentage | Number of alleles | Percentage | Number of alleles | Percentage | Number of alleles | Percentage | Number of alleles | Percentage | Number of alleles | Percentage | Number of alleles | Percentage |
| 1 | 15 | 0.78% | n.a | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | n.a | n.a. | n.a. | n.a. | n.a. | n.a. |
| 2 | 941 | 48.66% | 349 | 51.32% | 1,386 | 42.08% | 6,526 | 55.72% | 283 | 51.83% | 1,358 | 34.60% | 797 | 66.53% | 294 | 49.25% |
| 3 | 29 | 1.50% | 1 | 0.15% | 2 | 0.06% | 28 | 0.24% | 3 | 0.55% | 7 | 0.58% | 4 | 0.67% | ||
| 4 | 64 | 3.31% | 14 | 2.06% | 88 | 2.67% | 250 | 2.13% | 14 | 2.56% | 77 | 1.96% | 4 | 0.33% | 6 | 1.01% |
| 5 | 262 | 13.55% | 112 | 16.47% | 658 | 19.98% | 1,576 | 13.46% | 89 | 16.30% | 1,012 | 25.78% | 122 | 10.18% | 82 | 13.74% |
| 6 | 97 | 5.02% | 35 | 5.15% | 209 | 6.34% | 696 | 5.94% | 38 | 6.96% | 210 | 5.35% | 23 | 1.92% | 30 | 5.03% |
| 7 | 27 | 1.40% | 14 | 2.06% | 64 | 1.94% | 340 | 2.90% | 8 | 1.47% | 118 | 3.01% | 8 | 0.67% | 2 | 0.34% |
| 8 | 289 | 14.94% | 80 | 11.76% | 469 | 14.24% | 1,373 | 11.72% | 60 | 10.99% | 665 | 16.94% | 134 | 11.19% | 107 | 17.92% |
| 9 | 28 | 1.45% | 7 | 1.03% | 35 | 1.06% | 134 | 1.14% | 6 | 1.10% | 23 | 0.59% | 18 | 1.50% | 5 | 0.84% |
| 10 | 60 | 3.10% | 23 | 3.38% | 130 | 3.95% | 277 | 2.36% | 15 | 2.75% | 203 | 5.17% | 18 | 1.50% | 25 | 4.19% |
| 11 | 36 | 1.86% | 14 | 2.06% | 71 | 2.16% | 179 | 1.53% | 6 | 1.10% | 41 | 1.04% | 29 | 2.42% | 20 | 3.35% |
| 12 | 32 | 1.65% | 4 | 0.59% | 44 | 1.34% | 124 | 1.06% | 8 | 1.47% | 38 | 0.97% | 12 | 1.00% | 4 | 0.67% |
| 13 | 16 | 0.83% | 9 | 1.32% | 28 | 0.85% | 80 | 0.68% | 1 | 0.18% | 27 | 0.69% | 11 | 0.92% | 0 | 0.00% |
| 14 | 10 | 0.52% | 5 | 0.74% | 27 | 0.82% | 67 | 0.57% | 2 | 0.37% | 38 | 0.97% | 3 | 0.25% | 10 | 1.68% |
| 15 | 12 | 0.62% | 4 | 0.59% | 13 | 0.39% | 37 | 0.32% | 0 | 0.00% | 20 | 0.51% | 2 | 0.17% | 1 | 0.17% |
| 16 | 3 | 0.16% | 2 | 0.29% | 11 | 0.33% | 26 | 0.22% | 2 | 0.37% | 16 | 0.41% | 3 | 0.25% | 0 | 0.00% |
| 17 | 6 | 0.31% | 0 | 0.00% | 11 | 0.33% | 0 | 0.00% | 2 | 0.37% | 11 | 0.28% | 2 | 0.17% | 3 | 0.50% |
| 18 | 0 | 0.00% | 0 | 0.00% | 9 | 0.27% | 0 | 0.00% | 3 | 0.55% | 10 | 0.25% | 1 | 0.08% | 0 | 0.00% |
| 19 | 1 | 0.05% | 0 | 0.00% | 4 | 0.12% | 0 | 0.00% | 3 | 0.55% | 6 | 0.15% | 2 | 0.17% | 1 | 0.17% |
| 20 | 4 | 0.21% | 1 | 0.15% | 7 | 0.21% | 0 | 0.00% | 2 | 0.37% | 8 | 0.20% | 0 | 0.00% | 0 | 0.00% |
| 21 | 0 | 0.00% | 0 | 0.00% | 10 | 0.30% | 0 | 0.00% | 0 | 0.00% | 4 | 0.10% | 0 | 0.00% | 0 | 0.00% |
| 22 | 0 | 0.00% | 0 | 0.00% | 6 | 0.18% | 0 | 0.00% | 1 | 0.18% | 12 | 0.31% | 1 | 0.08% | 0 | 0.00% |
| 23 | 1 | 0.05% | 0 | 0.00% | 3 | 0.09% | 0 | 0.00% | 0 | 0.00% | 7 | 0.18% | 1 | 0.08% | 1 | 0.17% |
| 24 | 0 | 0.00% | 0 | 0.00% | 3 | 0.09% | 0 | 0.00% | 0 | 0.00% | 6 | 0.15% | 0 | 0.00% | 0 | 0.00% |
| 25 | 1 | 0.05% | 0 | 0.00% | 2 | 0.06% | 0 | 0.00% | 0 | 0.00% | 8 | 0.20% | 0 | 0.00% | 2 | 0.34% |
| 26 | 0 | 0.00% | 1 | 0.15% | 0 | 0.00% | 0 | 0.00% | 0 | 0.00% | 4 | 0.10% | 0 | 0.00% | 0 | 0.00% |
| 27 | 0 | 0.00% | 0 | 0.00% | 0 | 0.00% | 0 | 0.00% | 0 | 0.00% | 0 | 0.00% | 0 | 0.00% | 0 | 0.00% |
| 28 | 0 | 0.00% | 0 | 0.00% | 0 | 0.00% | 0 | 0.00% | 0 | 0.00% | 0 | 0.00% | 0 | 0.00% | 0 | 0.00% |
| 29 | 0 | 0.00% | 0 | 0.00% | 1 | 0.03% | 0 | 0.00% | 0 | 0.00% | 0 | 0.00% | 0 | 0.00% | 0 | 0.00% |
| 30 | 0 | 0.00% | 0 | 0.00% | 1 | 0.03% | 0 | 0.00% | 0 | 0.00% | 0 | 0.00% | 0 | 0.00% | 0 | 0.00% |
| >30 | 0 | 0.00% | 5 | 0.74% | 2 | 0.06% | 0 | 0.00% | 0 | 0.00% | 3 | 0.08% | 0 | 0.00% | 0 | 0.00% |
| Total | 1934 | 680 | 3,294 | 11,713 | 546 | 3,925 | 1,198 | 597 | ||||||||
ADNI, Project MinE and Alzheimer’s Disease Neuroimaging Initiative (23).