TABLE 2.

Association of MAPT haplotypes with putaminal TH-ir (dorsolateral and ventromedial) and SN neuronal loss (ventrolateral and medial)

		Association With Dorsolateral Putaminal TH-ir		Association With Ventromedial Putaminal TH-ir		Association With Ventrolateral SN Neuronal Loss Score		Association With Medial SN Neuronal Loss Score
Haplotype	Haplotype Frequency (%)	Regression Coefficient (95% CI)	P Value	Regression Coefficient (95% CI)	P Value	OR (95% CI)	P Value	OR (95% CI)	P Value
H1b	16.5	−0.06 (−0.22, 0.11)	0.48	−0.01 (−0.19, 0.18)	0.93	1.08 (0.77, 1.53)	0.65	1.05 (0.75, 1.47)	0.78
H1c	11.9	−0.03 (−0.20, 0.15)	0.76	−0.15 (−0.35, 0.05)	0.14	0.92 (0.64, 1.31)	0.63	1.01 (0.71, 1.44)	1.00
H1d	7.3	0.08 (−0.17, 0.33)	0.52	0.09 (−0.19, 0.38)	0.54	1.15 (0.68, 1.96)	0.57	1.27 (0.75, 2.14)	0.31
H1e	8.5	−0.07 (−0.29, 0.16)	0.59	−0.09 (−0.35, 0.17)	0.51	0.77 (0.49, 1.22)	0.24	1.05 (0.67, 1.65)	0.89
H1f	1.1	0.18 (−0.55, 0.91)	0.57	−0.10 (−0.94, 0.74)	0.82	1.12 (0.24, 5.36)	0.86	2.23 (0.48, 10.28)	0.32
H1g	1.8	−0.13 (−0.61, 0.36)	0.55	−0.34 (−0.90, 0.21)	0.22	1.40 (0.47, 4.11)	0.52	1.66 (0.60, 4.58)	0.32
H1h	3.9	0.16 (−0.17, 0.49)	0.36	0.38 (0.00, 0.76)	0.043	1.20 (0.60, 2.42)	0.59	0.93 (0.47, 1.80)	0.85
H1i	2.9	0.16 (−0.24, 0.56)	0.40	−0.11 (−0.57, 0.35)	0.64	0.33 (0.15, 0.77)	0.008	0.87 (0.38, 1.95)	0.67
H1j	1.3	−1.24 (−1.95, −0.53)	0.0016	−1.15 (−1.97, −0.35)	0.010	3.18 (0.59, 17.12)	0.20	1.43 (0.34, 5.97)	0.48
H1I	2.5	0.06 (−0.37, 0.49)	0.73	0.06 (−0.43, 0.55)	0.81	1.19 (0.48, 2.96)	0.74	1.11 (0.48, 2.61)	0.80
H1m	1.9	−0.40 (−0.91 0.12)	0.11	−0.43 (−1.03, 0.16)	0.14	0.67 (0.24, 1.90)	0.51	1.56 (0.51 4.78)	0.37
H1o	2.9	0.08 (−0.35, 0.52)	0.61	0.28 (−0.22, 0.77)	0.25	3.74 (1.31, 10.67)	0.015	0.93 (0.37, 2.35)	0.79
H1p	1.2	0.12 (−0.53, 0.78)	0.70	0.50 (−0.24, 1.25)	0.20	1.06 (0.27, 4.14)	0.90	0.30 (0.11, 1.00)	0.047
H1q	1.2	−0.22 (−0.84, 0.39)	0.51	0.08 (−0.62, 0.79)	0.83	2.31 (0.52, 10.23)	0.25	0.59 (0.17, 2.08)	0.43
H1r	1.7	−0.15 (−0.75, 0.44)	0.52	−0.23 (−0.91, 0.45)	0.45	1.31 (0.38, 4.56)	0.74	2.33 (0.68, 8.02)	0.13
H1s	1.5	−0.40 (−0.91, 0.12)	0.68	−0.43 (−1.03, 0.16)	0.36	0.67 (0.24, 1.90)	0.55	1.56 (0.51, 4.78)	0.93
H1u	3.0	−0.01 (−0.42, 0.39)	0.96	0.00 (−0.47, 0.46)	>0.99	1.18 (0.49, 2.81)	0.75	1.13 (0.50, 2.57)	0.78
H1xa	1.2	—	—	—	—	2.32 (0.55, 9.77)	0.32	1.43 (0.38, 5.44)	0.62
H1y	1.5	0.35 (−0.24, 0.94)	0.28	0.29 (−0.38, 0.97)	0.30	0.78 (0.23, 2.57)	0.86	0.39 (0.11, 1.35)	0.16
H1z	1.1	−0.39 (−1.06, 0.27)	0.21	−0.74 (−1.47, −0.01)	0.038	0.83 (0.22, 3.20)	0.80	1.54 (0.38, 6.26)	0.55
H2	22.5	0.09 (−0.04, 0.23)	0.18	0.10 (−0.05, 0.25)	0.20	0.90 (0.68, 1.19)	0.46	0.88 (0.67, 1.15)	0.35

P values result from score tests of association that were adjusted for age and sex, where haplotypes that occurred in <1% of LBD cases in a given association analysis were excluded from that analysis. Regression coefficients correspond to the change in the mean outcome measure (on the natural logarithm scale for dorsolateral putaminal TH-ir; on the square root scale for ventromedial putaminal TH-ir) for each additional copy of the given haplotype. ORs are interpreted as the multiplicative increase on the odds of a higher neuronal loss score for each additional copy of the given haplotype. P values ≤0.0025 (associations with dorsolateral and ventromedial putaminal TH-ir; 20 tests each) and ≤0.0024 (associations with ventrolateral and medial neuronal loss score; 21 tests each) were considered to be statistically significant after applying a Bonferroni correction for the number of tests of association that were performed for each outcome.

^aIndicates a haplotype that was observed at an overall frequency of <1% in a particular analysis and was therefore excluded from that analysis; sample sizes utilized in different analyses varied because of the varying degree of missing information for each outcome measure. Associations between haplotypes and outcomes that had a P values ≤0.05 are shown in bold.