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. Author manuscript; available in PMC: 2020 Mar 1.
Published in final edited form as: Nat Genet. 2019 Feb 28;51(3):414–430. doi: 10.1038/s41588-019-0358-2

Table 2 |.

Summary of discovery Stage 1, Stage 2, Stage 3 (A and B), and overall meta-analysis results of potential novel loci

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).

a

SNPs showing the best level of association after meta-analysis of Stages 1, 2 and 3.

b

Build 37, assembly hg19.

c

Based on position of top SNP in reference to the RefSeq assembly.

d

Variant is annotated to both gene features.

e

Average in the discovery sample.

f

Calculated with respect to the minor allele.

g

Recently identified as a LOAD locus in two separate 2017 studies.

h

Sample sizes for these loci are smaller (overall n = 89,769 for SUCLG2P4, 65,230 for FST, and n = 69,898 for WWOX).