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Table 3 Association of CD2AP, EPHA1, ARID5B, and CD33 variants with LOAD in the initial studies (ADGC and GERAD+) and Mayo2 follow-up series

From: Replication of EPHA1 and CD33 associations with late-onset Alzheimer's disease: a multi-centre case-control study

 

N a

MAFb

Association test

Study

Cases

Controls

Cases

Controls

OR (95% CI)

p-value

CD2AP- rs9349407-C (minor) allele

ADGC Discovery (Stage 1)

8,309

7,366

  

1.14 (1.08-1.21)

1.2 × 10 -6

ADGC Replication (Stage 2)

3,531

3,565

  

1.07 (0.98-1.17)

0.12

ADGC combined analysis (Stages 1+2)

11,840

10,931

  

1.12 (1.07-1.18)

1.0 × 10 -6

Hollingworth et al. (GERAD + Consortia)

6,283

7,165

  

1.11 (1.04-1.18)

8 × 10 -4

Mayo2c

2,521

4,055

0.27

0.27

0.97 (0.89-1.07)

0.56

Jacksonville

492

922

0.28

0.26

1.10 (0.91-1.33)

0.34

Rochester

313

1,600

0.26

0.27

0.88 (0.70-1.09)

0.24

Autopsy

285

100

0.26

0.29

0.98 (0.65-1.47)

0.92

Norway

324

519

0.25

0.28

0.81 (0.62-1.06)

0.13

Poland

468

181

0.29

0.25

1.04 (0.77-1.42)

0.79

ARUK

639

733

0.28

0.29

0.97 (0.81-1.16)

0.72

ADGC/Hollingworthd

18,123

18,096

   

1.2 × 10-10

Mayo2/ADGC/Hollingworthe

20,644

22,151

   

6.5 × 10-11

EPHA1- rs11767557-C (minor) allele

ADGC Discovery (Stage 1)

8,309

7,366

  

0.85 (0.80-0.90)

7.3 × 10 -8

ADGC Replication (Stage 2)

3,531

3,565

  

0.94 (0.86-1.03)

0.17

ADGC combined analysis (Stages 1+2)

11,840

10,931

  

0.87 (0.83-0.92)

2.4 × 10 -7

Hollingworth et al (GERAD + Consortia)

6,283

12,935

  

0.90 (0.85-0.95)

3.4 × 10 -4

Mayo2c

2,509

4,055

0.19

0.21

0.87 (0.78-0.96)

5.5 × 10 -4

Jacksonville

501

957

0.18

0.20

0.86 (0.70-1.06)

0.17

Rochester

309

1,572

0.19

0.21

0.89 (0.69-1.13)

0.33

Autopsy

307

99

0.17

0.24

0.66 (0.43-1.02)

0.06

Norway

338

548

0.21

0.22

0.94 (0.71-1.24)

0.67

Poland

457

169

0.20

0.21

0.93 (0.66-1.31)

0.67

ARUK

597

710

0.19

0.22

0.85 (0.69-1.04)

0.12

ADGC/Hollingworthd

18,123

18,096

   

4.2 × 10-12

Mayo2/ADGC/Hollingworthe

20,632

27,921

   

2.1 × 10-15

ARID5B- rs2588969-A (minor) allele

ADGC Discovery (Stage 1)

8,309

7,366

  

0.88 (0.84-0.93)

1.1 × 10 -6

ADGC Replication (Stage 2)

3,531

3,565

  

1.05 (0.97-1.13)

0.23

ADGC combined analysis (Stages 1+2)

11,840

10,931

  

0.93 (0.89-0.97)

0.001

Hollingworth et al (GERAD + Consortia)

6,283

7,165

  

1.06 (1.01-1.13)

0.03

Mayo2c

2,571

4,102

0.40

0.38

1.05 (0.96-1.14)

0.30

Jacksonville

495

928

0.39

0.38

1.04 (0.88-1.23)

0.63

Rochester

307

1,604

0.42

0.38

1.12 (0.92-1.37)

0.26

Autopsy

308

102

0.38

0.32

1.24 (0.86-1.79)

0.24

Norway

338

543

0.37

0.37

1.05 (0.83-1.33)

0.69

Poland

473

185

0.42

0.40

0.91 (0.68-1.20)

0.49

ARUK

650

740

0.40

0.39

1.05 (0.88-1.24)

0.61

ADGC/Hollingworthd

18,123

18,096

   

7.6 × 10-9

Mayo2/ADGC/Hollingworthe

20,694

22,198

   

2.3 × 10-9

ARID5B-rs4948288-A (minor) allele

ADGC Discovery (Stage 1)

8,309

7,366

    

ADGC Replication (Stage 2)

3,531

3,565

    

ADGC combined analysis (Stages 1+2)

11,840

10,931

    

Hollingworth et al (GERAD + Consortia)

6,992

13,472

  

1.07 (1.03-1.15)

3.6 × 10 -3

Mayo2c

2,556

4,058

0.42

0.40

1.07 (0.99-1.16)

0.11

Jacksonville

496

925

0.43

0.39

1.13 (0.96-1.34)

0.14

Rochester

314

1,579

0.43

0.40

1.08 (0.89-1.32)

0.43

Autopsy

300

98

0.38

0.39

0.91 (0.63-1.32)

0.61

Norway

324

540

0.40

0.41

1.06 (0.83-1.34)

0.64

Poland

466

184

0.42

0.40

0.90 (0.68-1.20)

0.48

ARUK

656

732

0.43

0.41

1.13 (0.96-1.33)

0.14

Mayo2/ADGC/Hollingworthe

9,548

17,530

   

4.0 × 10-4

CD33 - rs3865444-A (minor) allele

ADGC Discovery (Stage 1)

8,309

7,366

  

0.88 (0.84-0.93)

8.2 × 10 -7

ADGC Replication (Stage 2)

3,531

3,565

  

0.91 (0.85-0.99)

0.02

ADGC combined analysis (Stages 1+2)

11,840

10,931

  

0.89 (0.86-0.93)

1.1 × 10 -7

Hollingworth et al (GERAD + Consortia)

6,283

7,165

  

0.89 (0.84-0.95)

2.2 × 10 -4

Mayo2c

2538

4052

0.31

0.32

0.92 (0.84-1.00)

4.9 × 10 -2

Jacksonville

492

920

0.29

0.31

0.82 (0.68-0.98)

0.03

Rochester

312

1,577

0.31

0.33

0.88 (0.72-1.08)

0.23

Autopsy

298

97

0.32

0.34

0.84 (0.57-1.24)

0.39

Norway

327

541

0.32

0.32

0.89 (0.70-1.14)

0.37

Poland

467

187

0.30

0.26

1.00 (0.72-1.37)

0.99

ARUK

642

730

0.33

0.34

0.98 (0.83-1.17)

0.85

ADGC/Hollingworthd

18,123

18,096

   

3.6 × 10-12

Mayo2/ADGC/Hollingworthe

20,661

22,148

   

1.8 × 10-13

  1. Abbreviations: MAF, minor allele frequency; OR, odds ratio for the minor allele; 95% CI, 95% confidence interval
  2. aThe numbers shown for the series in the Naj et al. and Hollingworth et al. studies refer to the complete set analyzed. The numbers for the Mayo follow-up data refer to the number of samples successfully genotyped.
  3. bMAFs were not reported for LOAD and control groups in the Naj et al. or Hollingworth et al. studies.
  4. cThe results shown here for the Mayo2 follow-up dataset combined and for the subseries were obtained using logistic regression adjusted for age, sex and APOE ε 4 dosage. The Mayo2 follow-up dataset reported here is independent of that which was incorporated in the GWAS reported by Hollingworth et al. The results for each of the Mayo follow-up subseries (Jacksonville, Rochester, Autopsy-confirmed, Norway, Poland and ARUK) are listed immediately below the results for the Mayo2 follow-up dataset combined.
  5. dIndicates Fisher's combined p-value for each individual GWAS in the Naj et al. study (Combined) and the Hollingworth et al. study.
  6. eIndicates Fisher's combined p-value for each individual GWAS in the Naj et al. study (Combined), the Hollingworth et al. study and Mayo2 independent follow-up series.