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
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.
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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
    Baker, M
    Litvan, I
    Houlden, H
    Adamson, J
    Dickson, D
    Perez-Tur, J
    Hardy, J
    Lynch, T
    Bigio, E
    Hutton, M
    [J]. HUMAN MOLECULAR GENETICS, 1999, 8 (04) : 711 - 715
  • [3] The genetics of disorders with synuclein pathology and parkinsonism
    Farrer, M
    Gwinn-Hardy, K
    Hutton, M
    Hardy, J
    [J]. HUMAN MOLECULAR GENETICS, 1999, 8 (10) : 1901 - 1905
  • [4] Diagnostic criteria for Parkinson disease
    Gelb, DJ
    Oliver, E
    Gilman, S
    [J]. ARCHIVES OF NEUROLOGY, 1999, 56 (01) : 33 - 39
  • [5] Genetic studies in Parkinson's disease with an α-synuclein/NACP gene polymorphism in Japan
    Izumi, Y
    Morino, H
    Oda, M
    Maruyama, H
    Udaka, F
    Kameyama, M
    Nakamura, S
    Kawakami, H
    [J]. 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
    Maraganore, DM
    Farrer, MJ
    Hardy, JA
    Lincoln, SJ
    McDonnell, SK
    Rocca, WA
    [J]. NEUROLOGY, 1999, 53 (08) : 1858 - 1860
  • [10] PolyPhred: Automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
    Nickerson, DA
    Tobe, VO
    Taylor, SL
    [J]. NUCLEIC ACIDS RESEARCH, 1997, 25 (14) : 2745 - 2751