Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder

J Li, JA Ruskey, I Arnulf, Y Dauvilliers, MTM Hu, B Högl, CS Leblond, S Zhou, A Ambalavanan, JP Ross, CV Bourassa, D Spiegelman, SB Laurent, A Stefani, C Charley Monaca, V Cochen De Cock, M Boivin, L Ferini-Strambi, G Plazzi, E AntelmiP Young, A Heidbreder, C Labbe, TJ Ferman, PA Dion, D Fan, A Desautels, JF Gagnon, N Dupré, EA Fon, JY Montplaisir, BF Boeve, RB Postuma, GA Rouleau, OA Ross, Z Gan-Or

Research output: Contribution to journalArticlepeer-review

Abstract

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.
Original languageEnglish
Pages (from-to)1016-1020
Number of pages5
JournalMovement Disorders
Volume33
Issue number6
DOIs
Publication statusPublished - 2018

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