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Table 2 MAPT haplotype association results with LOAD risk in the Mayo, ADGC and combined Mayo + ADGC cohorts

From: Association of MAPT haplotypes with Alzheimer’s disease risk and MAPT brain gene expression levels

Haplotype Alleles Mayo cohort ADGC cohort Mayo + ADGC cohort
   F_All F_A F_U OR P F_All F_A F_U OR P F_All F_A F_U OR P
A (H2a) AGGCGG 0.215 0.205 0.221 0.80 4.1E-04 0.220 0.225 0.236 0.90 6.29E-04 0.221 0.228 0.240 0.90 1.53E-04
B (H1b) GGGCAA 0.173 0.180 0.169 1.15 0.046 0.190 0.194 0.197 1.05 0.208 0.185 0.197 0.196 1.05 0.089
C (H1c) AAGTAG 0.118 0.118 0.118 0.91 0.277 0.127 0.131 0.131 1.03 0.545 0.124 0.132 0.131 1.00 0.997
D (H1d) AAGCAA 0.076 0.071 0.078 0.99 0.905 0.075 0.074 0.079 0.93 0.195 0.074 0.077 0.081 0.91 0.074
E (H1e) AGGCAA 0.074 0.075 0.073 1.12 0.308 0.077 0.082 0.081 1.00 0.961 0.077 0.083 0.081 1.02 0.618
G GAACAA 0.017 0.014 0.018 0.91 0.692 0.012 0.013 0.013 0.84 0.256 0.014 0.014 0.015 0.85 0.176
H AGACAA 0.044 0.038 0.048 0.91 0.506 0.042 0.045 0.041 1.08 0.309 0.042 0.045 0.045 1.03 0.641
I GAGCAA 0.037 0.041 0.035 1.06 0.732 0.034 0.035 0.035 1.03 0.718 0.035 0.037 0.036 1.06 0.422
J AGGCAG 0.012 0.015 0.010 1.88 0.031 0.010 0.011 0.010 1.20 0.292 0.011 0.012 0.010 1.32 0.049
L AGACAG 0.029 0.032 0.027 1.37 0.059 0.032 0.034 0.033 1.06 0.483 0.031 0.034 0.032 1.10 0.187
M GAGCAG 0.025 0.020 0.027 0.78 0.215 0.021 0.022 0.020 1.09 0.459 0.022 0.023 0.023 1.00 0.978
N GGACAG NA 0.011 0.011 0.011 1.12 0.527 NA
O AAACAA 0.016 0.016 0.017 0.90 0.696 0.018 0.020 0.018 1.18 0.192 0.018 0.020 0.019 1.09 0.457
P GGGTAG 0.014 0.014 0.014 1.31 0.301 0.013 0.014 0.014 1.07 0.628 0.014 0.015 0.014 1.06 0.626
R AGGTAG 0.017 0.017 0.017 1.01 0.952 0.012 0.013 0.011 1.26 0.162 0.013 0.014 0.013 1.21 0.144
U AAGCAG 0.025 0.028 0.024 1.14 0.517 0.025 0.026 0.025 1.05 0.667 0.025 0.027 0.025 1.04 0.642
V GGATAG 0.011 0.012 0.010 1.41 0.233 0.010 0.011 0.010 1.14 0.463 0.011 0.012 0.011 1.20 0.210
W GGGCAG 0.012 <0.010 0.013 0.92 0.783 NA NA
X GAATAG 0.016 0.018 0.014 1.59 0.054 0.013 0.014 0.014 1.03 0.817 0.014 0.015 0.014 1.16 0.223
Y* AAATAG 0.015 0.017 0.014 1.64 0.056 0.013 0.014 0.013 1.19 0.306 0.013 0.015 0.013 1.22 0.147
Z* GAGTAG NA 0.011 0.011 0.010 1.10 0.590 NA
Global p value 0.0123 0.375 0.0329
  1. Results of multivariable logistic regression analyses for MAPT haplotypes with frequencies >1% are shown. Haplotype nomenclature is assigned as previously reported [6, 35]. Alleles for the SNPs defining the haplotypes are given in the 5’ to 3’ order as follows: rs1467967, rs242557, rs3785883, rs2471738, rs8070723, rs7521. Haplotypes not previously observed are designated by an asterisk (*). F_All = haplotype frequency in all subjects; F_A = in affected (LOAD) and F_U = unaffected (Control) subjects. OR = Odds Ratio, P = p-value.
  2. Boldface values within the tables indicate significant or suggestive associations with a p-value <0.10.