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

Table 4 Associations of MAPT haplotypes with age of CBD onset and disease duration

Haplotype	Haplotype frequency (%) (N = 188)	Association with age of CBD onset		Association with disease duration
Haplotype	Haplotype frequency (%) (N = 188)	β (95% CI)	P value	β (95% CI)	P value
H1b	21.6	− 0.48 (− 2.53, 1.56)	0.64	0.10 (− 0.52, 0.72)	0.76
H1c	15.1	− 1.10 (− 3.42, 1.22)	0.36	0.00 (− 0.71, 0.71)	0.99
H1d	10.8	1.18 (− 1.51, 3.88)	0.39	0.12 (− 0.70, 0.94)	0.78
H1e	6.7	0.05 (− 3.27, 3.37)	0.98	0.38 (− 0.63, 1.38)	0.46
H1h	4.9	− 1.00 (− 4.76, 2.76)	0.60	0.08 (− 1.06, 1.23)	0.89
H1i	6.3	− 1.62 (− 5.20, 1.96)	0.38	− 1.04 (− 2.12, 0.04)	0.061
H1k¹	1.0	2.49 (− 7.51, 12.49)	0.63	− 2.60 (− 5.61, 0.41)	0.093
H1l	3.8	1.80 (− 2.49, 6.09)	0.41	0.31 (− 1.00, 1.62)	0.64
H1m	1.7	− 4.68 (− 12.23, 2.87)	0.23	− 2.01 (− 4.30, 0.28)	0.087
H1o	4.3	− 2.72 (− 7.19, 1.75)	0.24	− 0.48 (− 1.85, 0.88)	0.49
H1p	1.1	0.94 (− 7.98, 9.85)	0.84	3.42 (0.76, 6.08)	0.013
H1q	1.2	0.08 (− 7.97, 8.12)	0.99	− 0.06 (− 2.50, 2.38)	0.96
H1r	2.1	− 0.27 (− 6.67, 6.13)	0.93	0.87 (− 1.06, 2.81)	0.38
H1s²	1.3	1.11 (− 6.92, 9.13)	0.79	0.29 (− 2.15, 2.73)	0.82
H1u	4.4	2.56 (− 1.28, 6.41)	0.19	0.01 (− 1.17, 1.19)	0.98
H1v	1.3	0.42 (− 7.03, 7.87)	0.91	1.79 (− 0.46, 4.03)	0.12
H1x	1.9	0.66 (− 5.57, 6.90)	0.84	− 0.20 (− 2.09, 1.69)	0.84
H2	7.7	1.23 (− 1.58, 4.04)	0.39	− 0.02 (− 0.87, 0.84)	0.97

β values, 95% CIs, and P values result from score tests of association that were adjusted for sex (age of CBD onset analysis) or sex and age of CBD onset (disease duration analysis). β values correspond to each additional copy of the given haplotype. P values < 0.0028 are considered as statistically significant after applying a Bonferroni correction for multiple testing
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

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