|Title||Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder.|
|Publication Type||Journal Article|
|Year of Publication||2018|
|Authors||Li, J, Ruskey, JA, Arnulf, I, Dauvilliers, Y, Hu, MTM, Högl, B, Leblond, CS, Zhou, S, Ambalavanan, A, Ross, JP, Bourassa, CV, Spiegelman, D, Laurent, SB, Stefani, A, Monaca, CCharley, De Cock, VCochen, Boivin, M, Ferini-Strambi, L, Plazzi, G, Antelmi, E, Young, P, Heidbreder, A, Labbe, C, Ferman, TJ, Dion, PA, Fan, D, Desautels, A, Gagnon, J-F, Dupré, N, Fon, EA, Montplaisir, JY, Boeve, BF, Postuma, RB, Rouleau, GA, Ross, OA, Gan-Or, iv, Z|
|Date Published||2018 Jul|
BACKGROUND: MAPT haplotypes are associated with PD, but their association with rapid eye movement sleep behavior disorder is unclear.OBJECTIVE: To study the role of MAPT variants in rapid eye movement sleep behavior disorder.METHODS: Two cohorts were included: (A) PD (n = 600), rapid eye movement sleep behavior disorder (n = 613) patients, and controls (n = 981); (B) dementia with Lewy bodies patients with rapid eye movement sleep behavior disorder (n = 271) and controls (n = 950). MAPT-associated variants and the entire coding sequence of MAPT were analyzed. Age-, sex-, and ethnicity-adjusted analyses were performed to examine the association between MAPT, PD, and rapid eye movement sleep behavior disorder.RESULTS: MAPT-H2 variants were associated with PD (odds ratios: 0.62-0.65; P = 0.010-0.019), but not with rapid eye movement sleep behavior disorder. In PD, the H1 haplotype odds ratio was 1.60 (95% confidence interval: 1.12-2.28; P = 0.009), and the H2 odds ratio was 0.68 (95% confidence interval: 0.48-0.96; P = 0.03). The H2/H1 haplotypes were not associated with rapid eye movement sleep behavior disorder.CONCLUSIONS: Our results confirm the protective effect of the MAPT-H2 haplotype in PD, and define its components. Furthermore, our results suggest that MAPT does not play a major role in rapid eye movement sleep behavior disorder, emphasizing different genetic background than in PD in this locus. © 2018 International Parkinson and Movement Disorder Society.
|Alternate Journal||Mov. Disord.|