Table 2.
Associations of TMEM106B rs3173615 with disease
TMEM106B rs3173615 genotype information | Comparison with controls under a recessive model |
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Group | N | MAF | CC | CG | GG | OR (95% CI) | P-value |
Cohort 1 – controls and C9ORF72 repeat expansion carrier probands (FTD, FTD/MND, MND) | |||||||
Controls | 376 | 43.2% | 123 (32.7%) | 181 (48.1%) | 72 (19.1%) | 1.00 (reference) | N/A |
FTD, FTD/MND, and MND patients | 260 | 38.8% | 89 (34.2%) | 140 (53.8%) | 31 (11.9%) | 0.57 (0.36 – 0.90) | 0.014 |
FTD patients | 69 | 35.5% | 25 (36.2%) | 39 (56.5%) | 5 (7.2%) | 0.33 (0.13 – 0.85) | 0.009 |
FTD/MND patients | 71 | 42.3% | 17 (23.9%) | 48 (67.6%) | 6 (8.5%) | 0.38 (0.16 – 0.92) | 0.017 |
MND patients | 120 | 38.8% | 47 (39.2%) | 53 (44.2%) | 20 (16.7%) | 0.85 (0.49 – 1.46) | 0.55 |
Cohort 2 – controls and FTD or FTD/MND patients without C9ORF72 repeat expansions or GRN mutations | |||||||
Controls | 765 | 41.0% | 280 (36.6%) | 342 (44.7%) | 143 (18.7%) | 1.00 (reference) | N/A |
FTD and FTD/MND patients | 586 | 39.3% | 213 (36.3%) | 285 (48.6%) | 88 (15.0%) | 0.77 (0.58 – 1.03) | 0.079 |
FTD patients | 531 | 39.8% | 187 (35.2%) | 265 (49.9%) | 79 (14.9%) | 0.76 (0.56 – 1.03) | 0.071 |
Pathologically diagnosed | 101 | 30.6% | 45 (44.6%) | 50 (49.5%) | 6 (5.9%) | 0.26 (0.11 – 0.61) | <0.001 |
Clinically diagnosed | 430 | 42.0% | 142 (33.0%) | 215 (50.0%) | 73 (17.0%) | 0.91 (0.67 – 1.25) | 0.56 |
FTD=frontotemporal dementia; MND=motor neuron disease; OR=odds ratio; CI=confidence interval; MAF=minor allele frequency. ORs, 95% CIs, and p-values result from logistic regression models where rs3173615 was considered under a recessive model. For cohort 1, models were adjusted for gender. For cohort 2, models were adjusted for age (age at blood draw in controls, age at diagnosis in clinically diagnosed patients, and age at death in pathologically diagnosed patients) and gender. After applying a Holm step-down adjustment for multiple testing, p≤ 0.025 are considered as statistically significant in cohort 1, and p≤ 0.0125 are considered as statistically significant in cohort 2.