DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease

被引:12
作者
Keeling, Brett H. [1 ]
Vilarino-Gueell, Carles [1 ]
Ross, Owen A. [1 ]
Wszolek, Zbigniew K. [2 ]
Uitti, Ryan J. [2 ]
Farrer, Matthew J. [1 ]
机构
[1] Mayo Clin Florida, Dept Neurosci, Jacksonville, FL 32224 USA
[2] Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA
关键词
Essential tremor; Parkinson disease; DRD3; HS1BP3; DOPAMINE D-3 RECEPTOR; ESSENTIAL TREMOR; HS1-BP3; GENE; VARIANT; COMMON; MUTATIONS; RISK;
D O I
10.1016/j.neulet.2009.05.084
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
Variants in the dopamine receptor D3 (DRD3) and HCLS1 binding protein 3 (HS1BP3) have been nominated as risk factors for essential tremor (ET). Although Er and Parkinson disease (PD) are considered different entities, they have many overlapping clinical and pathological features. We aim to evaluate the role of the Ser9Gly variant in DRD3 and Ala265Gly in HS1BP3 in PD development. To this end, we genotyped these two variants in a PD matched case-control series from the United States. Statistical analysis failed to identify significant differences in the frequency of these variants between the case and control groups; therefore our results do not support a role for these DRD3 and HS1BP3 variants in PD. (C) 2009 Elsevier Ireland Ltd. All rights reserved.
引用
收藏
页码:74 / 75
页数:2
相关论文
共 21 条
[1]   Risk of incident Parkinson's disease and parkinsonism in essential tremor: a population based study [J].
Benito-Leon, J. ;
Louis, E. D. ;
Bermejo-Pareja, F. .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2009, 80 (04) :423-425
[2]   Essential tremor:: emerging views of a common disorder [J].
Benito-Leon, Julian ;
Louis, Elan D. .
NATURE CLINICAL PRACTICE NEUROLOGY, 2006, 2 (12) :666-678
[3]   Reappraisal of the role of the DRD3 gene in essential tremor [J].
Blair, Marcia A. ;
Ma, Shaochun ;
Phibbs, Fenna ;
Fang, John Y. ;
Cooper, Michael K. ;
Davis, Thomas L. ;
Hedera, Peter .
PARKINSONISM & RELATED DISORDERS, 2008, 14 (06) :471-475
[4]   Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease [J].
Deng, H ;
Le, WD ;
Guo, Y ;
Huang, MS ;
Xie, WJ ;
Jankovic, J .
NEUROLOGY, 2005, 65 (04) :651-652
[5]   Genetics of essential tremor [J].
Deng, Hao ;
Le, Weidong ;
Jankovic, Joseph .
BRAIN, 2007, 130 :1456-1464
[6]   The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor [J].
Deng, Hao ;
Le, WeiDong ;
Davidson, Anthony L. ;
Xie, WenJie ;
Jankovic, Joseph .
NEUROSCIENCE LETTERS, 2006, 407 (02) :97-100
[7]   HS1-BP3 gene variant is common in familial essential tremor [J].
Higgins, JJ ;
Lombardi, RQ ;
Pucilowska, J ;
Jankovic, J ;
Golbe, LI ;
Verhagen, L .
MOVEMENT DISORDERS, 2006, 21 (03) :306-309
[8]   A variant in the HS1-BP3 gene is associated with familial essential tremor [J].
Higgins, JJ ;
Lombardi, RQ ;
Pucilowska, J ;
Jankovic, J ;
Tan, EK ;
Rooney, JP .
NEUROLOGY, 2005, 64 (03) :417-421
[9]   A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor [J].
Jeanneteau, Freddy ;
Funalot, Benoit ;
Jankovic, Joseph ;
Deng, Hao ;
Lagarde, Jean-Pierre ;
Lucotte, Gerad ;
Sokoloff, Pierre .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (28) :10753-10758
[10]   Association of the DRD2 and DRD3 polymorphisms with response to pramipexole in Parkinson's disease patients [J].
Liu, Ying-Zi ;
Tang, Bei-Sha ;
Yan, Xin-Xiang ;
Liu, Jie ;
Ouyang, Dong-Sheng ;
Nie, Li-Nuo ;
Fan, Lan ;
Li, Zhi ;
Ji, Wei ;
Hu, Dong-Li ;
Wang, Dan ;
Zhou, Hong-Hao .
EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY, 2009, 65 (07) :679-683