@article{8da0fdd6567b4b7884114ced0aaab658,
title = "Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder",
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.",
keywords = "MAPT, Parkinson's disease, REM sleep behavior disorder, genetics",
author = "Jiao Li and Ruskey, {Jennifer A.} and Isabelle Arnulf and Yves Dauvilliers and Hu, {Michele T.M.} and Birgit H{\"o}gl and Leblond, {Claire S.} and Sirui Zhou and Amirthagowri Ambalavanan and Ross, {Jay P.} and Bourassa, {Cynthia V.} and Dan Spiegelman and Laurent, {Sandra B.} and Ambra Stefani and {Charley Monaca}, Christelle and {Cochen De Cock}, Val{\'e}rie and Michel Boivin and Luigi Ferini-Strambi and Giuseppe Plazzi and Elena Antelmi and Peter Young and Anna Heidbreder and Catherine Labbe and Ferman, {Tanis J.} and Dion, {Patrick A.} and Dongsheng Fan and Alex Desautels and Gagnon, {Jean Fran{\c c}ois} and Nicolas Dupr{\'e} and Fon, {Edward A.} and Montplaisir, {Jacques Y.} and Boeve, {Bradley F.} and Postuma, {Ronald B.} and Rouleau, {Guy A.} and Ross, {Owen A.} and Ziv Gan-Or",
note = "Funding Information: *Correspondence to: Dr. Ziv Gan-Or, Montreal Neurological Institute, McGill University, 1033 Pine Avenue, West, Ludmer Pavilion, room 312, Montreal, QC, Canada, H3A 1A1; E-mail: ziv.gan-or@mcgill.ca Funding agencies: This work was financially supported by the Michael J. Fox Foundation and the Canadian Consortium on Neurodegeneration in Aging (CCNA). Funding Information: Acknowledgments: We thank the patients and controls for their participation in the study. This work was financially supported by the Michael J. Fox Foundation (MJFF) and by the Canadian Consortium on Neurodegeneration in Aging (CCNA). This study was also funded by the Monument Trust Discovery Award from Parkinson{\textquoteright}s UK and supported by the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre based at Oxford University Hospitals NHS Trust and University of Oxford, and the Dementias and Neurodegenerative Diseases Research Network (DeNDRoN). G.A.R. holds a Canada Research Chair in Genetics of the Nervous System and the Wilder Penfield Chair in Neurosciences. J.F.G. holds a Canada Research Chair in Cognitive Decline in Pathological Aging. J.L. is supported by the China Scholarship Council. We thank Daniel Rochefort, Pascale Hince, Helene Catoire, Pierre Provencher, Cathy Mirarchi, and Vessela Zaharieva for their assistance. We thank the Quebec Parkinson{\textquoteright}s Network and its members (http://rpq-qpn.ca/) for their collaboration. We thank all the members of the International RBD Genetics Consortium (IRBDGC). Publisher Copyright: {\textcopyright} 2018 International Parkinson and Movement Disorder Society",
year = "2018",
month = jun,
doi = "10.1002/mds.27385",
language = "English (US)",
volume = "33",
pages = "1016--1020",
journal = "Movement Disorders",
issn = "0885-3185",
publisher = "John Wiley and Sons Inc.",
number = "6",
}