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.

Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder / Li, Jiao; Ruskey, Jennifer A.; Arnulf, Isabelle; Dauvilliers, Yves; Hu, Michele T. M.; Högl, Birgit; Leblond, Claire S.; Zhou, Sirui; Ambalavanan, Amirthagowri; Ross, Jay P.; Bourassa, Cynthia V.; Spiegelman, Dan; Laurent, Sandra B; Stefani, Ambra; Charley Monaca, Christelle; Cochen De Cock, Valérie; Boivin, Michel; Ferini-Strambi, Luigi; Plazzi, Giuseppe; Antelmi, Elena; Young, Peter; Heidbreder, Anna; Labbe, Catherine; Ferman, Tanis J.; Dion, Patrick A.; Fan, Dongsheng; Desautels, Alex; Gagnon, Jean-François; Dupré, Nicolas; Fon, Edward A.; Montplaisir, Jacques Y.; Boeve, Bradley F.; Postuma, Ronald B.; Rouleau, Guy A.; Ross, Owen A.; Gan-Or, Ziv. - In: MOVEMENT DISORDERS. - ISSN 0885-3185. - 33:6(2018), pp. 1016-1020.

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