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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.