Histamine N-methyltransferase Thr105Ile polymorphism is associated with Parkinson%26apos;s disease

作者：Palada Vinko; Terzic Janos; Mazzulli Joseph; Bwala Grace; Hagenah Johann; Peterlin Borut; Hung Albert Y; Klein Christine; Krainc Dimitri^*

来源：Neurobiology of Aging, 2012, 33(4): 836.e1.

DOI：10.1016/j.neurobiolaging.2011.06.015

• Parkinson%26apos
• s disease
• Parkinsonism
• Histamine
• HNMT
• Association studies in genetics

Histamine is a central neurotransmitter degraded by histamine-N-methyltransferase (HNMT). Several abnormalities in the histaminergic system were found in patients with Parkinson%26apos;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.

• 出版日期2012-4