Table 1.
Discovery meta-analysis | Follow-up datasets | Overall | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Chr | Closest gene | SNP | BP | A1 | A2 | Freq A1 | OR [CI 95%] | P | OR [CI 95%] | P | OR [CI 95%] | P |
Variants showing novel genome-wide significant association with AD | ||||||||||||
2 | PRKD3/NDUFAF7 | rs876461 | 37515958 | A | G | 0.143 | 1.07 [1.04–1.09] | 9.14 × 10−7 | 1.08 [1.04–1.13] | 3.07 × 10−4 | 1.07 [1.05–1.09] | 1.34 × 10−9 |
8 | SHARPIN | rs34674752 | 145154222 | A | G | 0.052 | 1.11 [1.06–1.16] | 4.02 × 10−6 | 1.20 [1.10–1.31] | 1.65 × 10−5 | 1.13 [1.09–1.18] | 1.00 × 10−9 |
8 | SHARPIN | rs34173062 | 145158607 | A | G | 0.085 | 1.16 [1.11–1.21] | 1.33 × 10−11 | 1.09 [1.02–1.17] | 7.35 × 10−3 | 1.14 [1.10–1.18] | 9.62 × 10−13 |
16 | PLCG2 | rs3935877 | 81900853 | C | T | 0.868 | 0.92 [0.90–0.95] | 1.12 × 10−7 | 0.92 [0.85–0.99] | 1.96 × 10−2 | 0.92 [0.90–0.95] | 6.85 × 10−9 |
17 | CHRNE | rs72835061 | 4805437 | A | C | 0.085 | 1.09 [1.06–1.12] | 3.92 × 10−9 | 1.07 [1.02–1.12] | 7.83 × 10−3 | 1.09 [1.06–1.11] | 1.51 × 10−10 |
21 | APP | rs2154481 | 27473875 | C | T | 0.483 | 0.95 [0.93–0.96] | 9.26 × 10−10 | 0.96 [0.93–0.99] | 3.31 × 10−3 | 0.95 [0.94–0.96] | 1.39 × 10−11 |
Previously reported genome-wide significant hits replicating in the follow-up | ||||||||||||
4 | HS3ST1 | rs4351014 | 11027619 | C | T | 0.684 | 0.94 [0.92–0.96] | 5.37 × 10−10 | 0.93 [0.88–0.98] | 4.54 × 10−3 | 0.94 [0.92–0.95] | 9.16 × 10−12 |
16 | IL34 | rs4985556 | 70694000 | A | C | 0.111 | 1.08 [1.05–1.11] | 2.28 × 10−8 | 1.09 [1.03–1.16] | 4.59 × 10−3 | 1.08 [1.06–1.11] | 3.91 × 10−10 |
16 | PLCG2 | rs12444183 | 81773209 | A | G | 0.407 | 0.95 [0.93–0.97] | 1.48 × 10−8 | 0.92 [0.88–0.96] | 3.23 × 10−5 | 0.95 [0.93–0.96] | 6.81 × 10−12 |
Suggestive signals (not replicating) | ||||||||||||
14 | ELK2AP | rs7153315 | 106195719 | C | G | 0.750 | 0.94 [0.92–0.96] | 9.80 × 10−8 | 1.16 [1.01–1.33] | 0.0412 | 0.94 [0.92–0.97] | 9.04 × 10−7 |
15 | SPPL2A | rs76523702 | 51002342 | C | T | 0.802 | 1.06 [1.04–1.08] | 6.86 × 10−8 | 1.02 [0.97–1.07] | 0.3501 | 1.05 [1.03–1.08] | 1.08 × 10−7 |
Results obtained with a fixed effects inverse-variance-weighted meta-analysis on the discovery and follow-up stages. Freq A1 is from GR@ACE discovery dataset. P value for significance <5 × 10−8. Effect allele: A1.