Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor.
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.
Keeling
Brett H
BH
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA.
Vilariño-Güell
Carles
C
Soto-Ortolaza
Alexandra I
AI
Ross
Owen A
OA
Uitti
Ryan J
RJ
Rajput
Alex
A
Wszolek
Zbigniew K
ZK
Farrer
Matthew J
MJ
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D020329:Essential Tremor / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006637:Histamine N-Methyltransferase / Q000235:genetics*; D006801:Humans; D007532:Isoleucine / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D011569:Psychiatric Status Rating Scales; D013912:Threonine / Q000235:genetics*
D007532:Isoleucine; D013912:Threonine; D006637:Histamine N-Methyltransferase