Histamine N-methyltransferase Thr105Ile polymorphism is associated with Parkinson's disease

被引：22
|
作者：
Palada, Vinko [1 ]
Terzic, Janos [2 ]
Mazzulli, Joseph [3 ,4 ]
Bwala, Grace [3 ,4 ]
Hagenah, Johann [5 ]
Peterlin, Borut [6 ]
Hung, Albert Y. [3 ,4 ]
Klein, Christine [5 ]
Krainc, Dimitri [1 ,3 ,4 ]
机构：
[1] Mediterranean Inst Life Sci, Split, Croatia
[2] Univ Split, Sch Med, Split, Croatia
[3] Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA
[4] Harvard Univ, Sch Med, Boston, MA USA
[5] Univ Lubeck, Sect Clin & Mol Neurogenet, Dept Neurol, Lubeck, Germany
[6] Univ Med Ctr, Div Med Genet, Ljubljana, Slovenia
来源：
NEUROBIOLOGY OF AGING | 2012年 / 33卷 / 04期
关键词：
Parkinson's disease; Parkinsonism; Histamine; HNMT; Association studies in genetics; ESSENTIAL TREMOR;
D O I：
10.1016/j.neurobiolaging.2011.06.015
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：
Histamine is a central neurotransmitter degraded by histamine-N-methyltransferase (HNMT). Several abnormalities in the histaminergic system were found in patients with Parkinson's disease (PD), thus we tested the possible association of a Thr105Ile functional polymorphism in HNMT with PD. A total of 913 patients with PD and 958 controls were genotyped using a TaqMan RT-PCR Genotyping Assay (Foster City, California, USA). Lower frequency of HNMT Ile105 allele that is associated with decreased enzymatic activity was found in patients compared with controls (chi(2) = 11.65; p = 0.0006). We performed meta-analysis to confirm the association of Thr105Ile functional polymorphism with PD. Our results indicate that lower HNMT activity plays a role in the pathogenesis of PD. (C) 2012 Elsevier Inc. All rights reserved.
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页数：3
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