Alpha-synuclein haplotypes implicated in risk of Parkinson's disease

被引:63
作者
Tan, EK
Chai, A
Teo, YY
Zhao, Y
Tan, C
Shen, H
Chandran, VR
Teoh, ML
Yih, Y
Pavanni, R
Wong, MC
Puvan, K
Lo, YL
Yap, E
机构
[1] Singapore Gen Hosp, Dept Neurol, Singapore 169608, Singapore
[2] Singapore Gen Hosp, Dept Clin Res, Singapore 169608, Singapore
[3] Singapore Gen Hosp, Dept Hlth Screening, Singapore 169608, Singapore
[4] Natl Inst Neurosci, Singapore, Singapore
[5] SingHlth Res, Singapore, Singapore
[6] Def Med Res Inst, Singapore, Singapore
关键词
D O I
10.1212/01.WNL.0000101721.25345.DC
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The authors examined four- and six-loci haplotype constructs (from five single nucleotide polymorphisms and three microsatellite regions) of the alpha-synuclein gene in patients with Parkinson's disease (PD) and controls in an ethnic Chinese population. Logistic regression analysis demonstrated an association of NACP-Rep1 (p = 0.002) and L478 (p < 0.0001) with risk of PD after correction for the effects of age, sex, and the other polymorphic loci. Specific four- loci and six-loci haplotypes were significantly associated with an increased or decreased risk of PD.
引用
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页码:128 / 131
页数:4
相关论文
共 10 条
[1]   Effect of allelic variation at the NACP-Rep1 repeat upstream of the α-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system [J].
Chiba-Falek, O ;
Nussbaum, RL .
HUMAN MOLECULAR GENETICS, 2001, 10 (26) :3101-3109
[2]   Complex promoter and coding region β2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness [J].
Drysdale, CM ;
McGraw, DW ;
Stack, CB ;
Stephens, JC ;
Judson, RS ;
Nandabalan, K ;
Arnold, K ;
Ruano, G ;
Liggett, SB .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (19) :10483-10488
[3]   α-synuclein gene haplotypes are associated with Parkinson's disease [J].
Farrer, M ;
Maraganore, DM ;
Lockhart, P ;
Singleton, A ;
Lesnick, TG ;
de Andrade, M ;
West, A ;
de Silva, R ;
Hardy, J ;
Hernandez, D .
HUMAN MOLECULAR GENETICS, 2001, 10 (17) :1847-1851
[4]   ACCURACY OF CLINICAL-DIAGNOSIS OF IDIOPATHIC PARKINSONS-DISEASE - A CLINICOPATHOLOGICAL STUDY OF 100 CASES [J].
HUGHES, AJ ;
DANIEL, SE ;
KILFORD, L ;
LEES, AJ .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1992, 55 (03) :181-184
[5]   Haplotype tagging for the identification of common disease genes [J].
Johnson, GCL ;
Esposito, L ;
Barratt, BJ ;
Smith, AN ;
Heward, J ;
Di Genova, G ;
Ueda, H ;
Cordell, HJ ;
Eaves, IA ;
Dudbridge, F ;
Twells, RCJ ;
Payne, F ;
Hughes, W ;
Nutland, S ;
Stevens, H ;
Carr, P ;
Tuomilehto-Wolf, E ;
Tuomilehto, J ;
Gough, SCL ;
Clayton, DG ;
Todd, JA .
NATURE GENETICS, 2001, 29 (02) :233-237
[6]   Haploinsufficiency at the α-synuclein gene underlies phenotypic severity in familial Parkinson's disease [J].
Kobayashi, H ;
Krüger, R ;
Markopoulou, K ;
Wszolek, Z ;
Chase, B ;
Taka, H ;
Mineki, R ;
Murayama, K ;
Riess, O ;
Mizuno, Y ;
Hattori, N .
BRAIN, 2003, 126 :32-42
[7]   Mutation in the alpha-synuclein gene identified in families with Parkinson's disease [J].
Polymeropoulos, MH ;
Lavedan, C ;
Leroy, E ;
Ide, SE ;
Dehejia, A ;
Dutra, A ;
Pike, B ;
Root, H ;
Rubenstein, J ;
Boyer, R ;
Stenroos, ES ;
Chandrasekharappa, S ;
Athanassiadou, A ;
Papapetropoulos, T ;
Johnson, WG ;
Lazzarini, AM ;
Duvoisin, RC ;
DiIorio, G ;
Golbe, LI ;
Nussbaum, RL .
SCIENCE, 1997, 276 (5321) :2045-2047
[8]   Alpha synuclein promoter and risk of Parkinson's disease: microsatellite and allelic size variability [J].
Tan, EK ;
Tan, C ;
Shen, H ;
Chai, A ;
Lum, SY ;
Teoh, ML ;
Yih, Y ;
Wong, MC ;
Zhao, Y .
NEUROSCIENCE LETTERS, 2003, 336 (01) :70-72
[9]   Polymorphism of NACP-Rep1 in Parkinson's disease: An etiologic link with essential tremor? [J].
Tan, EK ;
Matsuura, T ;
Nagamitsu, S ;
Khajavi, M ;
Jankovic, J ;
Ashizawa, T .
NEUROLOGY, 2000, 54 (05) :1195-1198
[10]   Variability and validity of polymorphism association studies in Parkinson's disease [J].
Tan, EK ;
Khajavi, M ;
Thornby, JI ;
Nagamitsu, S ;
Jankovic, J ;
Ashizawa, T .
NEUROLOGY, 2000, 55 (04) :533-538