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. Author manuscript; available in PMC: 2015 Mar 1.
Published in final edited form as: Acta Neuropathol. 2014 Jan 3;127(3):397–406. doi: 10.1007/s00401-013-1240-4

Table 2.

Associations of TMEM106B rs3173615 with disease

TMEM106B rs3173615 genotype information Comparison with controls under a
recessive model

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.

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