Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy

被引：33

作者：

Ezquerra, Mario ^{[1
]}

Pastor, Pau ^{[2
,3
]}

Gaig, Carles ^{[1
]}

Vidal-Taboada, Jose M. ^{[2
]}

Cruchaga, Carlos ^{[2
]}

Munoz, Esteban ^{[1
]}

Marti, Maria-Jose ^{[1
]}

Valldeoriola, Francesc ^{[1
]}

Aguilar, Miquel

Calopa, Matilde

Hernandez-Vara, Jorge ^{[4
]}

Tolosa, Eduardo ^{[1
]}

机构：

[1] Univ Barcelona, Parkinsons Dis & Movement Disorders Unit, Neurol Serv, Inst Clin Neurociencies,Hosp Clin Barcelona,Dept, E-08036 Barcelona, Spain

[2] Univ Navarra, Ctr Appl Med Res CIMA, Div Neurosci, Neurogenet Lab, E-31080 Pamplona, Spain

[3] Univ Navarra Clin, Dept Neurol, Pamplona, Spain

[4] Hosp Valle De Hebron, Neurol Serv, Barcelona, Spain

来源：

NEUROBIOLOGY OF AGING | 2011年 / 32卷 / 03期

关键词：

Parkinson's disease; Progressive supranuclear palsy; MAPT; Haplotype; MESSENGER-RNA ISOFORMS; TAU-GENE; CORTICOBASAL DEGENERATION; ALZHEIMERS-DISEASE; LINKAGE DISEQUILIBRIUM; SAITOHIN GENE; H1; HAPLOTYPE; EXPRESSION; REGION; LOCUS;

D O I：

10.1016/j.neurobiolaging.2009.09.011

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

The H1 MAPT haplotype in the 17q21 chromosomal region has been associated with several neurodegenerative diseases. Some reports have suggested that there is an association between genetic variants within the H1 haplotype with Parkinson's disease (PD), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). Here we report a genetic association study using seven SNPs located along the 17q21 region, in PD patients and controls. In addition, we compared these results with a dataset of previously published PSP/CBD patients from the same population. Our results show that the H1-rs242557(G) allele sub-haplotype is increased in PD (p = 0.005), while the H1-rs242557(A) allele sub-haplotype is increased in PSP/CBD (p = 0.0002), comparing to controls. The rs242557 polymorphism could act modulating the phenotypic expressivity of the H1 risk on these parkinsonisms. The location of this polymorphism in the 5' regulatory region of MAPT gene suggests the presence of a functional mechanism involved in the variation of MAPT expression levels. (C) 2009 Elsevier Inc. All rights reserved.

引用

页码：547.e11 / 547.e16

页数：6

共 35 条

[1] Association of an extended haplotype in the tau gene with progressive supranuclear palsy [J].