Table 1

The expected and observed frequencies of disease-causing variants in ALS-related genes and the maximum estimated disease penetrance at population level

GenefALS (sALS)
%
fFTD (sFTD)
%
Deleterious (total) allelesExpected DAF
(expected CF)
Observed DAF
(observed CF)
P value (χ2)Penetrance
(% (95% CI))
C9orf72 40 (7)25 (6)16 (20 328)2.63×10–4
(1 in 1903)
7.87×10–4
(1 in 635)
3.99×10–6 33.4
(20.9 to 53.2)
SOD1 12 (2)0 (0)15 (208 130)3.88×10–5
(1 in 12 880)
7.21×10–5
(1 in 6938)
1.49×10–2 53.9
(32.7 to 88.6)
TARDBP 4 (1)1 (0)10 (208 126)1.85×10–5
(1 in 27 084)
4.80×10–5
(1 in 10 406)
1.68×10–3 38.4
(21.1 to 69.8)
FUS 4 (1)1 (0)20 (208 080)1.85×10–5
(1 in 27 084)
9.61×10–5
(1 in 5202)
1.66×10–16 19.2
(13.0 to 28.4)
  • P values have been generated from χ2 values (df=1) and 95% CI is given by penetrance(1 ± 1.96/χ).

  • CF, carrier frequency; DAF, deleterious allele frequency; fALS, familial amyotrophic lateral sclerosis; fFTD, familial frontotemporal dementia; sALS, sporadic amyotrophic lateral sclerosis; sFTD, sporadic frontotemporal dementia.