Table 1.
Rare variants detected in CSF1R TK and TK flanking regions in the discovery and follow-up cohort (a)
| Position | rsID | cDNA | Aa change | Domain | ExAc | EVS | AD carriers (tot = 797) (%) | CTRLS carrier (tot = 676) | MT | p-value | Adj p-value | OR | CI |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:149433682 | Novel | c.2869G > C | p.G957R | TK flanking region | NA | NA | 1 (0.12) | 0 | Disease_causing | 1 | 1 | Inf | 0.021–Inf |
| chr5:149433888 | rs34030164 | c.2760G > C | p.E920D | TK flanking region | 3e-3 | 2.5e-3 | 2 (0.25) | 7 (1) | polymorphism | 0.089 | 1 | 0.24 | 0.024–1.26 |
| chr5:149433902 | rs142435467 | c.2746G > A | p.E916K | TK flanking region | 7e-4 | 9.3e-4 | 0 | 2 (0.29) | Disease_causing | 0.21 | 1 | 0 | 0–4.5 |
| chr5:149434851 | rs281860278 | c.2603T > G | p.L868R | TK | 8.9e-5 | NA | 1 (0.12) | 0 | Disease_causing | 1 | 1 | Inf | 0.021–Inf |
| chr5:149439287 | rs111943087 | c.2107C > T | p.H703Ya | TK | NA | NA | 1 (0.12) | 0 | Polymorphism | 1 | 1 | Inf | 0.021–Inf |
| chr5:149439315 | rs545858226 | c.2080G > A | p.E694K | TK | 1.4e-5 | NA | 0 | 1 (0.14) | Disease_causing | 0.45 | 1 | 0 | 0–33 |
| chr5:149439322 | Novel | c.2073G > C | p.Q691Ha | TK | 6e-5 | NA | 1 (0.12) | 0 | Polymorphism | 1 | 1 | Inf | 0.021–Inf |
| chr5:149441346 | Novel | c.1693G > A | p.D565N | TK flanking region | NA | NA | 1 (0.12) | 0 | Disease_causing | 1 | 1 | Inf | 0.021–Inf |
Key: AD, Alzheimer's disease; Aa, amino acid; tot, total; MT, Mutation Taster; Adj p-value, adjusted p-value, based on Bonferroni correction with 69 rare coding variants; OR, odds ratio; CI, confidence interval. NA, not available; Inf, infinity.
a
Variants detected in the follow-up cohort.