Mutation | Group | Number of carriers/number of tested (frequency, %) | OR | 95% CI | p |
---|---|---|---|---|---|
del5395 | controls | 24/5496 (0.4) | 1.0 | Â | Â |
 | unselected cases | 15/1864 (0.8) | 1.9 | 0.97–3.5 | 0.009 |
 | familial cases | 4/249 (1.6) | 3.7 | 1.3–10.8 | 0.03 |
1100delC | controls | 12/5496 (0.2) | 1.0 | Â | Â |
 | unselected cases | 14/1864 (0.8) | 3.5 | 1.6–7.5 | 0.002 |
 | familial cases | 3/249 (1.2) | 5.6 | 1.6–19.9 | 0.02 |
IVS2+1G>A | controls | 22/5496 (0.4) | 1.0 | Â | Â |
 | unselected cases | 15/1864 (0.8) | 2.0 | 1.05–3.9 | 0.052 |
 | familial cases | 5/249 (2.0) | 5.1 | 1.9–13.6 | 0.002 |
Protein truncating mutation* | controls | 58/5496 (1.1) | 1.0 | Â | Â |
 | unselected cases | 44/1864 (2.4) | 2.3 | 1.5–3.4 | <0.0001 |
 | familial cases | 12/249 (4.8) | 4.7 | 2.5–9.0 | <0.0001 |
I157T | controls | 264/5496 (4.8) | 1.0 | Â | Â |
 | unselected cases | 142/1864 (7.6) | 1.6 | 1.3–2.0 | <0.0001 |
 | familial cases | 30/249 (12.0) | 2.7 | 1.8–4.1 | <0.0001 |
CHEK2** | controls | 321/5496 (5.8) | 1.0 | Â | Â |
 | unselected cases | 184/1864 (9.9) | 1.8 | 1.5–2.1 | <0.0001 |
 | familial cases | 42/249 (16.9) | 3.3 | 2.3–4.6 | <0.0001 |