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 Antelmi & 16 others P 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 journalArticle

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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REM Sleep Behavior Disorder
Haplotypes
Parkinson Disease
Odds Ratio
Confidence Intervals
Lewy Body Disease

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Li, J., Ruskey, JA., Arnulf, I., Dauvilliers, Y., Hu, MTM., Högl, B., ... Gan-Or, Z. (2018). Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder. Movement Disorders, 33(6), 1016-1020. https://doi.org/10.1002/mds.27385

Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder. / 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; Charley Monaca, C; Cochen De Cock, V; Boivin, M; Ferini-Strambi, L; Plazzi, G; Antelmi, E; Young, P; Heidbreder, A; Labbe, C; Ferman, TJ; Dion, PA; Fan, D; Desautels, A; Gagnon, JF; Dupré, N; Fon, EA; Montplaisir, JY; Boeve, BF; Postuma, RB; Rouleau, GA; Ross, OA; Gan-Or, Z.

In: Movement Disorders, Vol. 33, No. 6, 2018, p. 1016-1020.

Research output: Contribution to journalArticle

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, Charley Monaca, C, Cochen De Cock, V, Boivin, M, Ferini-Strambi, L, Plazzi, G, Antelmi, E, Young, P, Heidbreder, A, Labbe, C, Ferman, TJ, Dion, PA, Fan, D, Desautels, A, Gagnon, JF, Dupré, N, Fon, EA, Montplaisir, JY, Boeve, BF, Postuma, RB, Rouleau, GA, Ross, OA & Gan-Or, Z 2018, 'Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder', Movement Disorders, vol. 33, no. 6, pp. 1016-1020. https://doi.org/10.1002/mds.27385
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 ; Charley Monaca, C ; Cochen De Cock, V ; Boivin, M ; Ferini-Strambi, L ; Plazzi, G ; Antelmi, E ; Young, P ; Heidbreder, A ; Labbe, C ; Ferman, TJ ; Dion, PA ; Fan, D ; Desautels, A ; Gagnon, JF ; Dupré, N ; Fon, EA ; Montplaisir, JY ; Boeve, BF ; Postuma, RB ; Rouleau, GA ; Ross, OA ; Gan-Or, Z. / Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder. In: Movement Disorders. 2018 ; Vol. 33, No. 6. pp. 1016-1020.
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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. {\circledC} 2018 International Parkinson and Movement Disorder Society.",
author = "J Li and JA Ruskey and I Arnulf and Y Dauvilliers and MTM Hu and B H{\"o}gl and CS Leblond and S Zhou and A Ambalavanan and JP Ross and CV Bourassa and D Spiegelman and SB Laurent and A Stefani and {Charley Monaca}, C and {Cochen De Cock}, V and M Boivin and L Ferini-Strambi and G Plazzi and E Antelmi and P Young and A Heidbreder and C Labbe and TJ Ferman and PA Dion and D Fan and A Desautels and JF Gagnon and N Dupr{\'e} and EA Fon and JY Montplaisir and BF Boeve and RB Postuma and GA Rouleau and OA Ross and Z Gan-Or",
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T1 - Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder

AU - Li, J

AU - Ruskey, JA

AU - Arnulf, I

AU - Dauvilliers, Y

AU - Hu, MTM

AU - Högl, B

AU - Leblond, CS

AU - Zhou, S

AU - Ambalavanan, A

AU - Ross, JP

AU - Bourassa, CV

AU - Spiegelman, D

AU - Laurent, SB

AU - Stefani, A

AU - Charley Monaca, C

AU - Cochen De Cock, V

AU - Boivin, M

AU - Ferini-Strambi, L

AU - Plazzi, G

AU - Antelmi, E

AU - Young, P

AU - Heidbreder, A

AU - Labbe, C

AU - Ferman, TJ

AU - Dion, PA

AU - Fan, D

AU - Desautels, A

AU - Gagnon, JF

AU - Dupré, N

AU - Fon, EA

AU - Montplaisir, JY

AU - Boeve, BF

AU - Postuma, RB

AU - Rouleau, GA

AU - Ross, OA

AU - Gan-Or, Z

PY - 2018

Y1 - 2018

N2 - 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.

AB - 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.

U2 - 10.1002/mds.27385

DO - 10.1002/mds.27385

M3 - Article

VL - 33

SP - 1016

EP - 1020

JO - Movement Disorders

JF - Movement Disorders

SN - 0885-3185

IS - 6

ER -