Table 2 |.
Stage 3A | Stage 1 + 2 (n = 82,771) | Stage 3A (n = 11,666) | Overall (n = 94,437) | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNPa | Chr. | Positionb | Closest genec | Major/ minor allele | MAFe | OR | 95% CIf | P | OR | 95% CIf | P | OR | 95% CIf | Meta P |
rs4735340 | 8 | 95976251 | NDUFAF6 | T/A | 0.476 | 0.94 | 0.92–0.96 | 3.4 × 10−7 | 0.92 | 0.83–1.02 | 9.7 × 10−2 | 0.94 | 0.92–0.96 | 9.2 × 10−8 |
rs7920721g | 10 | 11720308 | ECHDC3 | A/G | 0.390 | 1.08 | 1.05–1.11 | 2.3 × 10−9 | 1.11 | 1.04–1.18 | 1.5 × 10−3 | 1.08 | 1.06–1.11 | 1.8 × 10−11 |
rs7295246 | 12 | 43967677 | ADAMTS20 | T/G | 0.413 | 1.07 | 1.04–1.09 | 2.7 × 10−7 | 1.02 | 0.96–1.09 | 4.5 × 10−1 | 1.06 | 1.04–1.08 | 3.9 × 10−7 |
rs10467994 | 15 | 51008687 | SPPL2A | T/C | 0.333 | 0.94 | 0.91–0.96 | 3.9 × 10−7 | 0.97 | 0.87–1.08 | 6.2 × 10−1 | 0.94 | 0.92–0.96 | 4.3 × 10−7 |
rs593742 | 15 | 59045774 | ADAM10 | A/G | 0.295 | 0.93 | 0.91–0.96 | 1.3 × 10−7 | 0.91 | 0.85–0.98 | 1.5 × 10−2 | 0.93 | 0.91–0.95 | 6.8 × 10−9 |
rs7185636 | 16 | 19808163 | IQCK | T/C | 0.180 | 0.92 | 0.89–0.95 | 8.4 × 10−8 | 0.94 | 0.86–1.01 | 1.1 × 10−1 | 0.92 | 0.89–0.95 | 2.4 × 10−8 |
rs2632516 | 17 | 56409089 | MIR142/TSPOAP1-AS1d | G/C | 0.440 | 0.94 | 0.92–0.96 | 2.3 × 10−7 | 0.91 | 0.82–1.01 | 7.5 × 10−2 | 0.94 | 0.91–0.96 | 5.3 × 10−8 |
rs138190086 | 17 | 61538148 | ACE | G/A | 0.020 | 1.32 | 1.20–1.45 | 7.5 × 10−9 | 1.17 | 0.92–1.48 | 2.1 × 10−1 | 1.30 | 1.19–1.42 | 5.3 × 10−9 |
rs2830500 | 21 | 28156856 | ADAMTS1 | C/A | 0.308 | 0.93 | 0.91–0.96 | 7.4 × 10−8 | 0.95 | 0.89–1.02 | 1.3 × 10−1 | 0.93 | 0.91–0.96 | 2.6 × 10−8 |
Stage 3B | Stage 1 (n = 63,926) | Stage 3B (n = 30,511)h | Overall (n = 94,437)h | |||||||||||
SNPa | Chr. | Positionb | Closest genec | Major/ minor allele | MAFe | OR | 95% CIf | P | OR | 95% CIf | P | OR | 95% CIf | Meta P |
rs71618613 | 5 | 29005985 | SUCLG2P4 | A/C | 0.010 | 0.68 | 0.57–0.80 | 9.8 × 10−6 | 0.76 | 0.63–0.93 | 6.8 × 10−3 | 0.71 | 0.63–0.81 | 3.3 × 10−7 |
rs35868327 | 5 | 52665230 | FST T/A | A/C | 0.013 | 0.69 | 0.59–0.80 | 7.8 × 10−7 | 0.58 | 0.29–1.17 | 1.2 × 10−1 | 0.68 | 0.59–0.79 | 2.6 × 10−7 |
rs114812713 | 6 | 41034000 | OARD1 | G/C | 0.030 | 1.35 | 1.24–1.47 | 4.5 × 10−12 | 1.23 | 1.06–1.42 | 7.2 × 10−3 | 1.32 | 1.22–1.42 | 2.1 × 10−13 |
rs62039712 | 16 | 79355857 | WWOX | G/A | 0.116 | 1.17 | 1.10–1.23 | 1.2 × 10−7 | 1.14 | 0.96–1.36 | 1.3 × 10−1 | 1.16 | 1.10–1.23 | 3.7 × 10−8 |
Novel loci were defined as loci not reported in Lambert et al.1 with (1) a Stage 1 + 2 meta P < 5 × 10−7 (nine variants after excluding TREM2) (Stage 3A) or (2) a MAF < 0.05 and Stage 1 P < 1 × 10−5 or MAF ≥ 0.05 and Stage 1 P < 5 × 10−6 for genome regions not covered on the Stage 2 custom array (Stage 3B).
SNPs showing the best level of association after meta-analysis of Stages 1, 2 and 3.
Build 37, assembly hg19.
Based on position of top SNP in reference to the RefSeq assembly.
Variant is annotated to both gene features.
Average in the discovery sample.
Calculated with respect to the minor allele.
Recently identified as a LOAD locus in two separate 2017 studies.
Sample sizes for these loci are smaller (overall n = 89,769 for SUCLG2P4, 65,230 for FST, and n = 69,898 for WWOX).