Table 2.
Variants of TREM2 after sequencing of exon 2 in LOAD patients and controls
| Variant | db SNP ID | Position (GRCh37) | Exonic function | LOAD patients (carriers, MAF) | Controls (carriers, MAF) | p value | OR (95% CI) | Population frequency data |
|||
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1,000G | gnomAD | EVS | GME | ||||||||
| p.Asp39Glu | rs200392967 | g.41129275G>C | nonsyn | 1 (0.005) | 0 | 1 | NA | 0 | 6.5 e-5 | 7.6 e-5 | 0 |
| p.Arg62His | rs143332484 | g.41129207C>T | nonsyn | 2 (0.011) | 0 | 0.49 | NA | 0.005 | 0.008 | 0.007 | 0 |
| p.Thr96Lys | rs2234253 | g.41129105G>T | nonsyn | 5 (0.029) | 6 (0.037) | 0.76 | 1.3 (0.39–4.36) |
0.041 | 0.012 | 0.039 | 0 |
| p.Gln109Gln | NA | g.41129065C>T | syn | 5 (0.029) | 0 | 0.06 | NA | ||||
| p.Val126Gly | rs121908402 | g.41129015A>C | nonsyn | 1 (0.005) | 0 | 1 | NA | 0 | 8.2 e-6 | 0 | 0 |
LOAD, late-onset Alzheimer's disease; db SNP, single nucleotide polymorphism database; MAF, minor allele frequency; syn, synonymous; nonsym, nonsynonymous.