α-synuclein gene haplotypes are associated with Parkinson's disease

被引：282
作者：
Farrer, M
Maraganore, DM
Lockhart, P
Singleton, A
Lesnick, TG
de Andrade, M
West, A
de Silva, R
Hardy, J
Hernandez, D
机构：
[1] Mayo Clin Jacksonville, Dept Neurosci, Jacksonville, FL 32224 USA
[2] Mayo Clin & Mayo Fdn, Dept Hlth Sci Res, Rochester, MN 55905 USA
[3] Reta Lila Weston Inst Neurol Studies, London W1T 4JF, England
来源：
HUMAN MOLECULAR GENETICS | 2001年 / 10卷 / 17期
关键词：
D O I：
10.1093/hmg/10.17.1847
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
We report haplotype analysis of the alpha -synuclein gene in Parkinson's disease (PD), extending earlier reports of an association with a polymorphism within the gene promoter. This analysis showed significant differences in haplotypes between PD cases and controls. Our analyses demonstrate that genetic variability in the alpha -synuclein gene is a risk factor for the development of PD. These genetic findings are analogous to the tau haplotype over-represented in progressive supranuclear palsy and further extend the similarity in the etiologies and pathogeneses of the synucleinopathies and tauopathies.
引用
收藏
页码：1847 / 1851
页数：5
相关论文
共 19 条
[1]  
Antonarakis SE, 1998, HUM MUTAT, V11, P1
[2]   Association of an extended haplotype in the tau gene with progressive supranuclear palsy [J].
Baker, M ;
Litvan, I ;
Houlden, H ;
Adamson, J ;
Dickson, D ;
Perez-Tur, J ;
Hardy, J ;
Lynch, T ;
Bigio, E ;
Hutton, M .
HUMAN MOLECULAR GENETICS, 1999, 8 (04) :711-715
[3]   The genetics of disorders with synuclein pathology and parkinsonism [J].
Farrer, M ;
Gwinn-Hardy, K ;
Hutton, M ;
Hardy, J .
HUMAN MOLECULAR GENETICS, 1999, 8 (10) :1901-1905
[4]   Diagnostic criteria for Parkinson disease [J].
Gelb, DJ ;
Oliver, E ;
Gilman, S .
ARCHIVES OF NEUROLOGY, 1999, 56 (01) :33-39
[5]   Genetic studies in Parkinson's disease with an α-synuclein/NACP gene polymorphism in Japan [J].
Izumi, Y ;
Morino, H ;
Oda, M ;
Maruyama, H ;
Udaka, F ;
Kameyama, M ;
Nakamura, S ;
Kawakami, H .
NEUROSCIENCE LETTERS, 2001, 300 (02) :125-127
[6]  
Khan N, 2001, ANN NEUROL, V49, P665
[7]  
Krüger R, 1999, ANN NEUROL, V45, P611, DOI 10.1002/1531-8249(199905)45:5<611::AID-ANA9>3.0.CO
[8]  
2-X
[9]   Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease [J].
Maraganore, DM ;
Farrer, MJ ;
Hardy, JA ;
Lincoln, SJ ;
McDonnell, SK ;
Rocca, WA .
NEUROLOGY, 1999, 53 (08) :1858-1860
[10]   PolyPhred: Automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing [J].
Nickerson, DA ;
Tobe, VO ;
Taylor, SL .
NUCLEIC ACIDS RESEARCH, 1997, 25 (14) :2745-2751
12