Table 2.
SNV | rs75932628 | rs143332484 | rs72824905 | rs616338 |
---|---|---|---|---|
Chr | 6 | 6 | 16 | 17 |
Position | 41129252 | 41129207 | 81942028 | 47297297 |
Protein Variation | R47H | R62H | P522R | S209F |
Gene | TREM2 | TREM2 | PLCG2 | ABI3 |
Effect Allele | T | T | G | T |
| ||||
Stage 1
| ||||
P | 3.02E-12 | 3.48E-09 | 1.19E-05 | 2.16E-05 |
OR | 2.46 | 1.58 | 0.65 | 1.42 |
MAF Cases | 0.003 | 0.015 | 0.006 | 0.013 |
MAF Controls | 0.001 | 0.010 | 0.011 | 0.010 |
N | 30018 | 33786 | 33786 | 33786 |
| ||||
Stage 2
| ||||
P | 4.38E-08 | 3.66E-07 | 1.35E-04 | 8.37E-05 |
OR | 2.37 | 3.97 | 0.70 | 1.41 |
MAF Cases | 0.004 | 0.014 | 0.006 | 0.010 |
MAF Controls | 0.002 | 0.006 | 0.008 | 0.008 |
N | 35831 | 3968 | 35831 | 35831 |
| ||||
Stage 3
| ||||
P | 1.23E-06 | 2.45E-03 | 2.48E-02 | 1.75E-02 |
OR | 2.58 | 1.55 | 0.69 | 1.58 |
MAF Cases | 0.006 | 0.012 | 0.006 | 0.010 |
MAF Controls | 0.003 | 0.008 | 0.007 | 0.008 |
N | 14884 | 15288 | 15288 | 14876 |
| ||||
Stage1, 2 and 3 Meta-Analysis
| ||||
P | 5.38E-24 | 1.55E-14 | 5.38E-10 | 4.56E-10 |
OR | 2.46 | 1.67 | 0.68 | 1.43 |
MAF Cases | 0.004 | 0.014 | 0.006 | 0.011 |
MAF Controls | 0.002 | 0.009 | 0.009 | 0.008 |
N | 80733 | 53042 | 84905 | 84493 |
Note: Concordance for alternate allele carrier genotypes between imputed versus called SNPs in Stage 3 was 75.2% for rs75932628, 91.1% for rs143332484, 95.7% for rs72824905, and 81.9% for rs616338 (Online Methods and Supplementary Table 6).