Table 1.
Cohort characteristics for 976 subjects used for the analysis.
Fig 1.
Relation of clinical signs to the H1-H2 haplotype.
The tag SNP rs1052553 is used to differentiate the H1/H2 haplotypes. The top series of panels (A, B, C) report the association of MAPT genotype with motor traits at the baseline assessment (global parkinsonism, p = 0.001; bradykinesia, p<0.001; gait, p = 0.021, adjusted for age, sex, study). The bottom series of panels (C, D, E) report the association of MAPT genotype with motor traits at the time of the last available assessment (global parkinsonism, p = 0.050; bradykinesia, p = 0.008; gait, p = 0.12, adjusted for age, sex, study, + path). Each dot represents one subject.
Table 2.
MAPT H1 and H2 major haplotypes* and MAPT subhaplotype H1c** association with global parkinsonism and motor components at baselinea and lastb measurements.
Fig 2.
Relation of MAPT expression to the H1/H2 haplotypes.
A dose-dependent effect of the H2 haplotype is noted. Each dot represents one subject. (A) Total MAPT expression (p = 1.2x10-14 adjusted for age, sex, and path); (B) Expression of MAPT isoform 1N4R, the only isoform to be significantly associated with parkinsonism. (p<0.001 adjusted for age, sex, and study and p = 0.001 adjusted for age, sex, study and path); (C) MAPT exon structure and composition of the 1N4R isoform: aa, amino acids; E2, exon 2; E3, exon 3; E10, exon 10.