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.

引用

页数：3

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