期刊
PARKINSONISM & RELATED DISORDERS
卷 16, 期 2, 页码 112-114出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2009.08.011
关键词
Parkinson disease; Essential tremor; Histamine; HNMT
资金
- Morris K. Udall Parkinson's Disease Research Center of Excellence [NS40256]
- Pacific Alzheimer Research Foundation (PARF) [C06-01]
- CIHR [121849]
- [P01 AG017216]
- [R01 NS057567]
- [R01 AG015866]
A functional variant in the Histamine N-Methyltransferase gene (HNMT - rs11558538) resulting in a threonine to isoleucine substitution (Thr105Ile) has been shown to impair histamine degradation. Two recent studies reported that the threonine allele of this polymorphism might be a risk factor for Parkinson disease (PD) and essential tremor (ET) development. Although PD and ET are considered different entities, they share some clinical and pathological features, suggesting a possible joint etiology. In this study we assess the role of the Thr105Ile variant in PD and ET development, genotyping the variant in a North American Caucasian PD and ET case-control series. Statistical analysis did not identify any significant association between this Variant and PD or ET; therefore, our findings do not support the HNMT Thr105Ile variant as a factor in disease development or a genetic link between the disorders. (C) 2009 Elsevier Ltd. All rights reserved.
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