TY - JOUR
T1 - Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor
AU - Keeling, Brett H.
AU - Vilariño-Güell, Carles
AU - Soto-Ortolaza, Alexandra I.
AU - Ross, Owen A.
AU - Uitti, Ryan J.
AU - Rajput, Alex
AU - Wszolek, Zbigniew K.
AU - Farrer, Matthew J.
N1 - Funding Information:
Mayo Clinic Jacksonville is a Morris K. Udall Parkinson's Disease Research Center of Excellence (NINDS P50 #NS40256) and a Pacific Alzheimer Research Foundation (PARF) grant C06-01 (RJU, ZKW & MJF). ZKW is also partially funded by P01 AG017216, R01 NS057567, R01 AG015866 and CIHR 121849. We would like to thank all those who have contributed to our research, particularly the patients and their families.
PY - 2010/2
Y1 - 2010/2
N2 - 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.
AB - 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.
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U2 - 10.1016/j.parkreldis.2009.08.011
DO - 10.1016/j.parkreldis.2009.08.011
M3 - Article
C2 - 19773194
AN - SCOPUS:75749125739
SN - 1353-8020
VL - 16
SP - 112
EP - 114
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
IS - 2
ER -