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

Jiao Li, Jennifer A. Ruskey, Isabelle Arnulf, Yves Dauvilliers, Michele T.M. Hu, Birgit Högl, Claire S. Leblond, Sirui Zhou, Amirthagowri Ambalavanan, Jay P. Ross, Cynthia V. Bourassa, Dan Spiegelman, Sandra B. Laurent, Ambra Stefani, Christelle Charley Monaca, Valérie Cochen De Cock, Michel Boivin, Luigi Ferini-Strambi, Giuseppe Plazzi, Elena AntelmiPeter Young, Anna Heidbreder, Catherine Labbe, Tanis J. Ferman, Patrick A. Dion, Dongsheng Fan, Alex Desautels, Jean François Gagnon, Nicolas Dupré, Edward A. Fon, Jacques Y. Montplaisir, Bradley F. Boeve, Ronald B. Postuma, Guy A. Rouleau, Owen A. Ross, Ziv Gan-Or

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1016-1020
Number of pages5
JournalMovement Disorders
Volume33
Issue number6
DOIs
StatePublished - Jun 2018

Keywords

  • MAPT
  • Parkinson's disease
  • REM sleep behavior disorder
  • genetics

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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