Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor

Brett H. Keeling, Carles Vilariño-Güell, Alexandra I. Soto-Ortolaza, Owen A. Ross, Ryan J. Uitti, Alex Rajput, Zbigniew K. Wszolek, Matthew J. Farrer

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)112-114
Number of pages3
JournalParkinsonism and Related Disorders
Volume16
Issue number2
DOIs
StatePublished - Feb 2010

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

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