Table 1 Summary of resequencing data with Fisher’s test analysis of variant CJD, sporadic CJD and controls

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