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

Allen, Mariet; Kachadoorian, Michaela; Quicksall, Zachary; Zou, Fanggeng; Chai, High Seng; Younkin, Curtis; Crook, Julia E; Pankratz, V Shane; Carrasquillo, Minerva M; Krishnan, Siddharth; Nguyen, Thuy; Ma, Li; Malphrus, Kimberly; Lincoln, Sarah; Bisceglio, Gina; Kolbert, Christopher P; Jen, Jin; Mukherjee, Shubhabrata; Kauwe, John K; Crane, Paul K; Haines, Jonathan L; Mayeux, Richard; Pericak-Vance, Margaret A; Farrer, Lindsay A; Schellenberg, Gerard D; Parisi, Joseph E; Petersen, Ronald C; Graff-Radford, Neill R; Dickson, Dennis W; Younkin, Steven G; Ertekin-Taner, Nilüfer

doi:10.1186/alzrt268

Alzheimer's Research & Therapy

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

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.
Boldface values within the tables indicate significant or suggestive associations with a p-value <0.10.

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