Table 1.
Association of variants in CLU, CR1 and PICALM with LOAD in the original GWAS and in the follow-up series
| CLU - rs11136000 - T (minor) allele | |||||||
|---|---|---|---|---|---|---|---|
| Study |
N |
MAF |
Association test |
||||
| Cases | Controls | Cases | Controls | HWE | OR (95% CI) | p valuea | |
| Harold GWAS | 3,912 | 7,844 | 0.36 | 0.40 | 6.1×10−1 | 0.84 (0.79-0.89) | 1.4×10−9 |
| Lambert GWAS | 2,016 | 5,266 | 0.35 | 0.39 | 6.0×10−1 | 0.83 (0.77-0.90) | 1.5×10−6 |
| Harold Follow-up | N/A | N/A | N/A | N/A | N/A | 0.91 (0.83-0.99) | 1.7×10−2 |
| Lambert Follow-up | 3,775 | 3,154 | 0.35 | 0.38 | 2.6×10−1 | 0.88 (0.81-0.95) | 8.8×10−4 |
| Mayob | 1,819 | 2,565 | 0.37 | 0.41 | 3.8×10−1 | 0.82 (0.75-0.91) | 8.6×10−5 |
| JS | 501 | 625 | 0.37 | 0.41 | 6.0×10−1 | 0.82 (0.68-0.99) | 3.6×10−2 |
| RS | 314 | 1,635 | 0.40 | 0.41 | 6.7×10−1 | 0.95 (0.78-1.15) | 5.9×10−1 |
| AUT | 315 | 99 | 0.36 | 0.36 | 6.7×10−1 | 1.00 (0.69-1.43) | 9.8×10−1 |
| NCRAD | 689 | 206 | 0.35 | 0.41 | 1.5×10−1 | 0.71 (0.54-0.92) | 1.0×10−2 |
| Harold Combined | 0.86 (0.82-0.90) | 8.5×10−10 | |||||
| Lambert Combined | 0.86 (0.81-0.90) | 7.5×10−9 | |||||
| Harold/Lambertc | 3.1×10−20 | ||||||
| Harold/Lambert/Mayoc | 2.7×10−26 | ||||||
|
CR1 - rs3818361 - A (minor) allele
|
|||||||
| Harold GWAS | 3,939 | 7,848 | 0.21 | 0.18 | 8.3×10−2 | 1.17 (1.09-1.25) | 9.2×10−6 |
| Lambert GWAS | 2,018 | 5,324 | 0.22 | 0.18 | 8.5×10−1 | 1.28 (1.17-1.40) | 8.5×10−8 |
| Lambert Follow-up | 3,717 | 3,094 | 0.22 | 0.20 | 1.1×10−1 | 1.11 (1.02-1.22) | 1.6×10−2 |
| Mayob | 1,829 | 2,576 | 0.22 | 0.20 | 3.2×10−2 | 1.15 (1.03-1.29) | 1.4×10−2 |
| JS | 500 | 625 | 0.22 | 0.2 | 1.8×10−1 | 1.19 (0.96-1.48) | 1.1×10−1 |
| RS | 313 | 1,641 | 0.19 | 0.19 | 9.5×10−2 | 0.98 (0.77-1.24) | 8.6×10−1 |
| AUT | 316 | 102 | 0.22 | 0.21 | 4.2×10−1 | 1.21 (0.78-1.87) | 4.1×10−1 |
| NCRAD | 700 | 208 | 0.23 | 0.19 | 2.2×10−1 | 1.18 (0.86-1.61) | 3.1×10−1 |
| Harold Combined | 1.17 (1.09-1.25) | 9.2×10−6 | |||||
| Lambert Combined | 1.19 (1.11-1.26) | 8.9×10−8 | |||||
| Harold/Lambertc | 1.3×10−14 | ||||||
| Harold/Lambert/Mayoc | 1.8×10−16 | ||||||
|
PICALM - rs3851179 - T (minor) allele
|
|||||||
| Harold GWAS | 3,941 | 7,848 | 0.33 | 0.37 | 6.8×10−1 | 0.85 (0.80-0.90) | 1.9×10−8 |
| Harold Follow-up | N/A | N/A | N/A | N/A | N/A | 0.90 (0.82-0.99) | 1.4×10−2 |
| Mayob | 1,816 | 2,552 | 0.33 | 0.37 | 7.0×10−1 | 0.80 (0.73-0.89) | 1.3×10−5 |
| JS | 498 | 622 | 0.31 | 0.36 | 6.0×10−1 | 0.76 (0.63-0.92) | 5.0×10−3 |
| RS | 313 | 1,622 | 0.33 | 0.38 | 5.6×10−1 | 0.76 (0.62-0.94) | 1.0×10−2 |
| AUT | 308 | 100 | 0.35 | 0.40 | 2.0×10−3 | 0.73 (0.52-1.03) | 7.6×10−2 |
| NCRAD | 697 | 208 | 0.33 | 0.36 | 9.9×10−1 | 0.97 (0.73-1.27) | 8.1×10−1 |
| Harold Combined | 0.86 (0.82-0.90) | 1.3×10−9 | |||||
| Harold/Mayoc | 3.5×10−15 | ||||||
Abbreviations: MAF, minor allele frequency; HWE, p value for the test of Hardy-Weinberg equilibrium in controls; OR, odds ratio for the minor allele; 95% CI, 95% confidence interval.
a
p values and ORs were calculated under an allelic dosage model using logistic regression adjusted by sex and APOE ε4 status.
b
The Mayo series reported here is independent of that which was incorporated in the GWAS reported by Harold et al.
c
Indicates Fisher’s combined p value.