MAPT haplotype diversity in multiple system atrophy

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MAPT haplotype diversity in multiple system atrophy

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作者：Catherine Labbé ; ^a ; Michael G. Heckman^b ; Oswaldo Lorenzo-Betancor^a ; Melissa E. Murray^a ; Kotaro Ogaki^a ; Alexandra I. Soto-Ortolaza^a ; Ronald L. Walton^a ; Shinsuke Fujioka^a ; Shunsuke Koga^a ; Ryan J. Uitti^c ; Jay A. van Gerpen^c ; Ronald C. Petersen^d ; Neill R. Graff-Radford^c ; Steven G. Younkin^a ; Bradley F. Boeve^d ; William P. Cheshire Jr.^c ; Phillip A. Low^d ; Paola Sandroni^d ; Elizabeth A. Coon^d ; Wolfgang Singer^d ; Zbigniew K. Wszolek^c ; Dennis W. Dickson^a ; Owen A. Ross^a ; ^e ; ^{ross.owen@mayo.edu" class="auth_mail" title="E-mail the corresponding author}
关键词：Multiple system atrophy ; MAPT ; Association study ; Genetics
刊名：Parkinsonism & Related Disorders
出版年：2016
出版时间：September 2016
年：2016
卷：30
期：Complete
页码：40-45
全文大小：260 K

文摘

•: In this association study, we identified four MAPT haplotypes associated to MSA.
•: Haplotype H2 and H1E are protective and H1x and H1J are risk haplotypes.
•: The MAPT gene is involved in the susceptibility to MSA.
•: Follow-up sequencing studies should be attempted to pinpoint causal variants.

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