Table 1

Summary of resequencing data with Fishers test analysis of variant CJD, sporadic CJD and controls
Genotype Count
rs545358 rs319013 rs76547469
GG:GT:TT CC:CA:AA TT:TA:AA
sCJD (n = 109) 15:3:91 48:24:37 99:2:8
vCJD (n = 120) 49:3:68 52:21:47 110:3:7
1000 Genomes (n = 379) 1:41:337 n/a n/a
Exome Variant Server (n = 4241) n/a 599:1894:1748 3838:428:17
Fisher's Test Results for sCJD and vCJD versus Online Controls
Test dbSNP Identifier Genotype/Allele Comparison p value Odds Ratio 95% Confidence Interval Significance1
sCJD vs. vCJD
rs545358 G vs. T 2.04E-10 0.246 0.151 - 0.393 ***
GG vs. TT 6.46E-06 0.230 0.110 - 0.459 ***
GG vs. GT 0.172 0.312 0.038 - 2.579
rs319013 C vs. A 0.5738 1.126 0.767 - 1.655
CC vs. AA 0.6568 1.172 0.629 - 2.190
CC vs. CA 0.5933 0.809 0.375 - 1.734
rs76547469 T vs. A 0.7255 0.847 0.398 - 1.795
TT vs. AA 0.7906 0.788 0.234 - 2.589
TT vs. TA 1 1.348 0.151 - 16.444
sCJD vs. Controls
rs545358 G vs. T 2.01E-05 2.962 1.769 - 4.923 ***
GG vs. TT 2.69E-09 55.001 8.253 - 2315.479 ***
GG vs. GT 2.30E-10 163.748 17.131 - 8175.872 ***
rs319013 C vs. A 4.69E-08 2.134 1.615 - 2.827 ***
CC vs. AA 4.22E-09 3.783 2.387 - 6.038 ***
CC vs. CA 6.73E-14 6.318 3.758 - 10.882 ***
rs76547469 T vs. A 0.07015 0.633 0.386 - 1.101
TT vs. AA 1.61E-07 0.055 0.022 - 0.151 ***
TT vs. TA 0.003525 5.519 1.478 - 46.367 **
vCJD vs. Controls
rs545358 G vs. T < 2.2e-16 12.038 7.957 - 18.471 ***
GG vs. TT < 2.2e-16 237.889 39.562 - 9180.580 ***
GG vs. GT < 2.2e-16 530.747 60.122 - 16384.000 ***
rs319013 C vs. A 1.25E-06 1.894 1.452 - 2.471 ***
CC vs. AA 3.56E-08 3.227 2.108 - 4.951 ***
CC vs. CA < 2.2e-16 7.834 4.593 - 13.812 ***
rs76547469 T vs. A 0.2474 0.748 0.452 - 1.318
TT vs. AA 3.67E-06 0.070 0.027 - 0.203 ***
TT vs. TA 0.005828 4.088 1.353 - 20.212 **
Significance * 0.05 - 0.001 ** 0.001 - 0.0001 *** <0.0001

1 Significance: * 0.05-0.001; ** 0.001-0.0001; *** <0.0001.

Bishop et al.

Bishop et al. BMC Medical Genetics 2013 14:91   doi:10.1186/1471-2350-14-91

Open Data