Table 2.
Variants found in exon 2 of TREM2 through Sanger sequencing in 131 AD patients and 157 controls
| SNP No. | Position | Ref. geno-type | Mutant geno-type | Mutant genotypes, n |
p value | Odds ratio (95% CI) | Minor alleles, n |
p value | Odds ratio (95% CI) | Predicted protein | Poly-Phen2 | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| in AD patients | in controls | in AD patients | in controls | ||||||||||
| rs75932628 | 41129252 | CC | TC | 2 | 1 | 0.859 | 2.4 (0.22 − 27.2) |
4 | 1 | 0.270 | 4.8 (0.54 − 43.6) |
R47H | Probably damaging |
| TT | 1 | 1 | 0.905 | undefined | (1.000) | ||||||||
| rs143332484 | 41129207 | CC | TC | 1 | 0 | 0.909 | undefined | 1 | 0 | 0.909 | undefined | R62H | Benign (0.016) |
| rs201258314 | 41129208 | GG | AG | 1 | 0 | 0.909 | undefined | 1 | 0 | 0.909 | undefined | R62C | Probably damaging (0.999) |
| n.a. | 41129229 | CC | TC | 1 | 0 | 0.909 | undefined | 1 | 0 | 0.909 | undefined | G55R | Probably damaging (0.884) |
| rs2234252 | 41129309 | GG | AG | 0 | 1 | 1.000 | undefined | 0 | 1 | 1.000 | 0 | A28V | Possibly damaging (0.503) |
CI = Confidence interval; n.a = not available; SNP = single nucleotide polymorphism.