Table 5.
Genome-wide association results for published SNPs in FTD and other neurodegenerative diseases
| Gene | Minor allele | Major allele | Frequency of minor allele | OR of minor allele (95% CI) | p Value | Imputation quality | |
|---|---|---|---|---|---|---|---|
| Markera | |||||||
| rs1990622 | TMEM106B | G | A | 0.39 | 0.92 (0.78–1.08) | 3.19 × 10−1 | 0.100 |
| rs6966915 | TMEM106B | T | C | 0.39 | 0.93 (0.79–1.09) | 3.73 × 10−1 | 0.998 |
| rs1020004 | TMEM106B | C | T | 0.28 | 0.95 (0.80–1.14) | 5.96 × 10−1 | 0.999 |
| rs302652 | RAB38 | A | T | 0.25 | 0.97 (0.81–1.16) | 7.26 × 10−1 | 0.975 |
| rs16913634 | RAB38/CTSC | A | G | 0.11 | 1.07 (0.82–1.38) | 6.23 × 10−1 | 0.882 |
| rs9268877 | HLA-DRA/HLA-DRB5 | A | G | 0.42 | 0.91 (0.77–1.07) | 2.54 × 10−1 | 0.987 |
| rs9268856 | HLA-DRA/HLA-DRB5 | A | C | 0.19 | 0.87 (0.71–1.07) | 1.82 × 10−1 | 0.988 |
| rs1980493 | BTNL2 | C | T | 0.10 | 0.82 (0.60–1.11) | 1.97 × 10−1 | 0.901 |
| rs3849942 | C9orf72/MOB3B | T | C | 0.29 | 1.21 (1.02–1.43) | 3.00 × 10−2 | 1.000 |
| rs242557 | MAPT | A | G | 0.33 | 1.03 (0.87–1.22) | 7.57 × 10−1 | 0.995 |
| rs8070723 | MAPT | G | A | 0.25 | 0.83 (0.69–1.00) | 4.77 × 10−2 | 0.999 |
| rs2075650 | TOMM40/APOE | G | A | 0.12 | 1.65 (1.31–2.08) | 2.10 × 10−5 | 0.996 |
| Markerb | |||||||
| rs157580 | TOMM40/APOE | G | A | 0.39 | 0.87 (0.74–1.02) | 9.17 × 10−2 | 0.993 |
| rs11136000 | CLU | T | C | 0.35 | 0.86 (0.68–1.08) | 1.94 × 10−1 | 0.502 |
| rs3818361 | CR1 | A | G | 0.20 | 1.01 (0.83–1.23) | 9.47 × 10−1 | 0.997 |
| rs3851179 | PICALM | T | C | 0.37 | 1.00 (0.85–1.18) | 9.93 × 10−1 | 0.998 |
| rs744373 | BIN1 | G | A | 0.28 | 0.97 (0.81–1.15) | 6.98 × 10−1 | 0.986 |
Key: AD, Alzheimer's disease; ALS; amyotrophic lateral sclerosis; FTD, frontotemporal dementia; GWAS; genome-wide association studies; SNP, single-nucleotide polymorphism.
a
Results for SNPs associated with FTD (TMEM106B, RAB38 and CTSC, HLA-DRA/DRB5 and BTNL2); FTD-ALS (C9orf72/MOB3B); FTD-17 (MAPT), and AD (TOMM40/APOE).
b
Analysis for AD-specific loci highlighted by major AD-GWAS. We reported the results of the logistic regression under an additive model on SNP dosage levels adjusting for sex and the first 4 principal components. To retrieve information about SNPs and their genomic context (the nearest gene), we used the hg18 (NCBI 36) assembly.