Table 3 Single locus analysis of the association between MAPT and Creutzfeldt-Jakob disease
SNP (alleles) | |||||||
|---|---|---|---|---|---|---|---|
rs242559 (A/c) | rs242557 (G/a) | rs3785883 (G/a) | rs2471738 (C/t) | H1/H2 (G/a) | rs7521 (G/a) | ||
Controls | |||||||
Major allele count (frequences) | 467 (0.76) | 382 (0.63) | 501 (0.82) | 495 (0.81) | 469 (0.77) | 330 (0.54) | |
wt | 180 (0.60) | 123 (0.40) | 205 (0.67) | 208 (0.68) | 183 (0.60) | 91 (0.30) | |
Genotype distribution (frequences) | wt-v | 107 (0.29) | 136 (0.45) | 91 0.30) | 79 (0.26) | 103 (0.34) | 148 (0.48) |
v-v | 19 (0.11) | 46 (0.15) | 10 (0.03) | 18 (0.06) | 18 (0.06) | 67 (0.22) | |
NL sCJD | |||||||
Major allele count (frequences) | 116 (0.73) | 95 (0.60) | 134 (0.85) | 124 (0.78) | 115 (0.73) | 88 (0.56) | |
wt | 47 (0.60) | 29 (0.37) | 56 (0.71) | 50 (0.64) | 47 (0.62) | 27 (0.35) | |
Genotype distribution (frequences) | wt-v | 22 (0.28) | 37 (0.48) | 22 (0.28) | 24 (0.31) | 21 (0.28) | 34 (0.43) |
v-v | 9 (0.12) | 12 (0.15) | 1 (0.01) | 4 0.05) | 8 (0.10) | 17 (0.22) | |
P-values | Allelic | 0.6 | 0.71 | 0.41 | 0.65 | 0.75 | 0.59 |
Genotypic | 0.19 [0.32] | 0.87 [0.70] | 0.58 [0.76] | 0.68 [0.66] | 0.27 [0.45] | 0.68 [0.71] | |
Italy sCJD | |||||||
Major allele count (frequences) | 297 (0.76) | 248 (0.64) | 319 (0.82) | 301 (0.78) | 300 (0.77) | 205 (0.53) | |
wt | 111 (0.58) | 84 (0.44) | 133 (0.70) | 122 (0.64) | 116 (0.62) | 54 (0.28) | |
Genotype distribution (frequences) | wt-v | 75 (0.39) | 80 (0.42) | 51 (0.28) | 57 (0.30) | 68 (0.36) | 97 (0.51) |
v-v | 6 (0.03) | 28 (0.14) | 5 (0.02) | 12 (0.06) | 4 (0.02) | 40 (0.21) | |
P-values | Allelic | 0.76 | 0.54 | 0.55 | 0.37 | 0.34 | 0.95 |
Genotypic | 0.25 [0.43] | 0.75 [0.73] | 0.80 [0.20] | 0.60 [0.77] | 0.14 [0.54] | 0.87 [0.78] | |
UK sCJD | |||||||
Major allele count (frequences) | 69 (0.72) | 65 (0.68) | 82 (0.85) | 71 (0.74) | 69 (0.72) | 59 (0.61) | |
Genotype distribution (frequences) | wt | 25 (0.52) | 22 (0.46) | 36 (0.75) | 28 (0.58) | 25 (0.52) | 20 (0.42) |
wt-v | 19 (0.40) | 21 0.44) | 10 (0.21) | 15 (0.31) | 19 (0.40) | 19 (0.39) | |
v-v | 4 (0.08) | 5 (0.10) | 2 (0.04) | 5 (0.11) | 4 (0.08) | 9 (0.19) | |
P-values | Allelic | 0.37 | 0.36 | 0.47 | 0.13 | 0.3 | 0.19 |
Genotypic | 0.65 [0.42] | 0.63 [0.47] | 0.44 [0.17] | 0.31 [0.62] | 0.54 [0.31] | 0.25 [0.15] | |
Overall sCJD | |||||||
Major allele count (frequences) | 482 (0.76) | 408 (0.64) | 535 (0.84) | 496 (0.78) | 484 (0.78) | 352 (0.56) | |
wt | 183 (0.58) | 135 (0.43) | 225 (0.71) | 200 (0.63) | 188 (0.60) | 101 (0.32) | |
Genotype distribution (frequences) | wt-v | 116 (0.36) | 138 (0.43) | 85 (0.27) | 96 (0.30) | 108 (0.35) | 150 (0.47) |
v-v | 19 (0.06) | 45 (0.14) | 8 (0.02) | 21 (0.07) | 16 (0.05) | 66 (0.21) | |
P-values | Allelic | 0.84 | 0.6 | 0.29 | 0.2 | 0.89 | 0.61 |
Genotypic | 0.92 [0.73] | 0.85 [0.66] | 0.57 [0.36] | 0.46 [0.58] | 0.90 [0.87] | 0.84 [0.77] | |
UK vCJD | |||||||
Major allele count (frequences) | 67 (0.66) | 64 (0.63) | 90 (0.87) | 80 (0.78) | 67 (0.67) | 61 (0.60) | |
wt | 21 (0.41) | 19 (0.37) | 39 (0.75) | 31 (0.61) | 23 (0.46) | 19 (0.37) | |
Genotype distribution (frequences) | wt-v | 25 (0.49) | 26 (0.51) | 12 (0.23) | 18 (0.35) | 21 (0.42) | 23 (0.45) |
v-v | 5 (0.10) | 6 (0.12) | 1 (0.02) | 2 (0.04) | 6 (0.12) | 9 (0.18) | |
P-values | Allelic | 0.36 | 0.55 | 0.84 | 0.51 | 0.54 | 0.88 |
Genotypic | 0.28 [0.26] | 0.39 [0.79] | 0.99 [0.96] | 0.80 [0.60] | 0.55 [0.27] | 0.65 [0.99] | |