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

V Palada, J Terzić, J Mazzulli, G Bwala, J Hagenah… - Neurobiology of …, 2012 - Elsevier
V Palada, J Terzić, J Mazzulli, G Bwala, J Hagenah, B Peterlin, AY Hung, C Klein, D Krainc
Neurobiology of aging, 2012Elsevier
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 …
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 (χ2 = 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.
Elsevier