MAPT subhaplotypes in corticobasal degeneration: assessing associations with disease risk, severity of tau pathology, and clinical features

Valentino, Rebecca R.; Koga, Shunsuke; Walton, Ronald L.; Soto-Beasley, Alexandra I.; Kouri, Naomi; DeTure, Michael A.; Murray, Melissa E.; Johnson, Patrick W.; Petersen, Ronald C.; Boeve, Bradley F.; Uitti, Ryan J.; Wszolek, Zbigniew K.; Dickson, Dennis W.; Ross, Owen A.; Heckman, Michael G.

doi:10.1186/s40478-020-01097-z

Table 3 Associations of MAPT haplotypes with overall tau pathology scores for coiled bodies, neurofibrillary tangles, tufted astrocytes, and neuropil threads

From: MAPT subhaplotypes in corticobasal degeneration: assessing associations with disease risk, severity of tau pathology, and clinical features

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
Haplotype	Haplotype frequency (%) (N = 196)	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

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