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. 2019 Jun 10;76(9):1099–1108. doi: 10.1001/jamaneurol.2019.1456

Table 1. Study-Wide Significant (P ≤ 2.37 × 10−7) Associations With Individual Variants in the APOE ε4 Group.

Chr Positiona rsID EA Gene GnomAD MAF (%) Discovery Replicationb Discovery + Replicationb
MAC MAF (%) OR (95% CI)b P Valuec P Valueb OR (95% CI) P Value OR (95% CI) P Value
6 41,129,252 rs75932628d T TREM2 0.2 68 0.50 4.85 (2.74-8.60) 2.12 × 10−9 4.59 × 10−8 2.40 (1.20-4.81) .01 3.66 (2.36-5.68) 6.84 × 10−9
7 154,988,675 rs536940594e A AC099552 0 10 0.10 88.0 (9.08-852.0) 2.22 × 10−7 9.47 × 10−5 NA NA NA NA
8 145,138,063 rs138412600e A GPAA1 2 239 2.00 2.13 (1.59-2.87) 2.70 × 10−7 3.91 × 10−7 1.47 (1.08-1.98) .01 1.78 (1.44-2.2) 7.81 × 10−8
17 44,076,665 rs62063857d A MAPT 18.8 2063 16.33 1.25 (1.14-1.37) 1.83 × 10−6 4.23 × 10−6 1.12 (1.04-1.2) 2.03 × 10−3 1.17 (1.1-1.23) 1.59 × 10−7
17 448,28,931 rs199533d A NSF 17.8 2983 20.35 0.82 (0.76-0.89) 3.97 × 10−6 4.28 × 10−6 0.9 (0.83-0.96) 3.38 × 10−3 0.86 (0.82-0.91) 1.66 × 10−7

Abbreviations: AD, Alzheimer disease; Chr, chromosome; EA, effect allele; GnomAD, Genome Aggregation Database; MAC, minor allele count; MAF, minor allele frequency; NA, not available; OR, odds ratio; rsID, rs number.

a

Position based on genome build GRCh37.

b

Odds ratios, 95% CIs, and P values are based on generalized linear model.

c

P value for score test.

d

All statistics and estimates based on model 1, which adjusted only for principal components.

e

All statistics and estimates based on model 2, which adjusted for age, sex, and principal components.