Table 3.

Associations of MAPT haplotypes with overall tau pathology scores for coiled bodies, neurofibrillary tangles, tufted astrocytes, and neuropil threads

Haplotype	Haplotype frequency (%) (N = 196)	Association with CB overall tau pathology score		Association with NFT overall tau pathology score		Association with AP overall tau pathology score		Association with NT overall tau pathology score
		β (95% CI)	P value	β (95% CI)	P value	β (95% CI)	P value	β (95% CI)	P value
H1b	20.7	− 0.05 (− 0.13, 0.02)	0.16	0.01 (− 0.06, 0.08)	0.79	− 0.03 (− 0.06, 0.00)	0.060	− 0.04 (− 0.11, 0.04)	0.31
H1c	14.6	0.08 (− 0.01, 0.16)	0.073	0.00 (− 0.07, 0.08)	0.96	0.02 (− 0.02, 0.06)	0.31	0.05 (− 0.04, 0.13)	0.26
H1d	10.8	0.02 (− 0.08, 0.11)	0.72	0.05 (− 0.04, 0.14)	0.28	0.01 (− 0.04, 0.05)	0.77	0.06 (− 0.04, 0.16)	0.23
H1e	7.4	0.01 (− 0.09, 0.12)	0.79	0.02 (− 0.08, 0.12)	0.71	− 0.07 (− 0.12, − 0.02)	0.007	− 0.07 (− 0.18, 0.04)	0.20
H1h	5.0	0.05 (− 0.08, 0.18)	0.48	− 0.06 (− 0.19, 0.06)	0.30	0.04 (− 0.02, 0.10)	0.23	0.01 (− 0.13, 0.14)	0.90
H1i	6.2	0.02 (− 0.11, 0.15)	0.82	0.09 (− 0.03, 0.21)	0.14	0.04 (− 0.02, 0.10)	0.22	0.09 (− 0.04, 0.22)	0.17
H1k1	1.0	0.33 (− 0.03, 0.68)	0.072	0.05 (− 0.28, 0.38)	0.78	0.02 (− 0.14, 0.18)	0.83	0.15 (− 0.28, 0.58)	0.51
H1l	3.4	0.00 (− 0.16, 0.16)	0.96	0.03 (− 0.12, 0.17)	0.73	− 0.03 (− 0.10, 0.05)	0.49	0.11 (− 0.05, 0.27)	0.18
H1m	1.5	− 0.09 (− 0.38, 0.20)	0.53	− 0.20 (− 0.47, 0.06)	0.13	0.11 (− 0.02, 0.24)	0.11	− 0.22 (− 0.51, 0.07)	0.14
H1o	4.6	− 0.09 (− 0.24, 0.07)	0.27	− 0.02 (− 0.17, 0.12)	0.74	0.03 (− 0.05, 0.10)	0.48	− 0.02 (− 0.17, 0.14)	0.84
H1p	1.0	− 0.12 (− 0.44, 0.21)	0.47	− 0.35 (− 0.64, − 0.05)	0.021	− 0.01 (− 0.15, 0.14)	0.95	− 0.37 (− 0.69, − 0.04)	0.028
H1q	1.2	− 0.10 (− 0.39, 0.18)	0.47	− 0.08 (− 0.34, 0.18)	0.54	0.07 (− 0.06, 0.20)	0.27	− 0.14 (− 0.42, 0.15)	0.34
H1r	2.3	− 0.09 (− 0.30, 0.13)	0.42	− 0.16 (− 0.35, 0.03)	0.11	− 0.04 (− 0.14, 0.05)	0.38	0.01 (− 0.20, 0.23)	0.90
H1s2	1.6	− 0.08 (− 0.34, 0.17)	0.51	0.08 (− 0.15, 0.32)	0.47	− 0.10 (− 0.21, 0.01)	0.089	0.14 (− 0.12, 0.39)	0.29
H1u	4.7	− 0.08 (− 0.21, 0.05)	0.25	0.10 (− 0.02, 0.22)	0.10	0.01 (− 0.05, 0.07)	0.65	0.06 (− 0.07, 0.19)	0.38
H1v	1.4	− 0.03 (− 0.29, 0.23)	0.83	− 0.05 (− 0.28, 0.19)	0.70	− 0.09 (− 0.21, 0.02)	0.12	− 0.20 (− 0.46, 0.06)	0.13
H1x	1.8	0.02 (− 0.21, 0.24)	0.87	0.10 (− 0.11, 0.31)	0.34	0.03 (− 0.08, 0.13)	0.61	0.04 (− 0.19, 0.27)	0.71
H1z3	1.0	0.02 (− 0.34, 0.39)	0.91	− 0.36 (− 0.69, − 0.03)	0.033	− 0.01 (− 0.17, 0.16)	0.95	− 0.28 (− 0.65, 0.09)	0.14
H2	7.9	0.02 (− 0.08, 0.12)	0.69	− 0.04 (− 0.13, 0.05)	0.42	0.03 (− 0.02, 0.07)	0.27	− 0.03 (− 0.13, 0.07)	0.59

β values, 95% CIs, and P values result from score tests of association that were adjusted for age at death, sex, Braak stage, and Thal phase. β values correspond to each additional copy of the given haplotype. P values < 0.0026 are considered as statistically significant after applying a Bonferroni correction for multiple testing

CB coiled bodies, NFT neurofibrillary tangles, AP astrocytic plaques, NT neuropil threads, CBD corticobasal degeneration, β regression coefficient, CI confidence interval

¹The specific haplotype for H1k was not previously shown in Table 2 as this haplotype occurred at a frequency < 1% in the overall case–control series; this haplotype is A-A-A-C-A-G for the rs1467967-rs242557-rs3785883-rs2471738-rs8070723-rs7521 haplotype

²The specific haplotype for H1s was not previously shown in Table 2 as this haplotype occurred at a frequency < 1% in the overall case–control series; this haplotype is G-G-G-C-A-G for the rs1467967-rs242557-rs3785883-rs2471738-rs8070723-rs7521 haplotype

³The specific haplotype for H1z was not previously shown in Table 2 as this haplotype occurred at a frequency < 1% in the overall case–control series; this haplotype is G-A-G-T-A-G for the rs1467967-rs242557-rs3785883-rs2471738-rs8070723-rs7521 haplotype