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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.

Titel:	Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor.
Autor/in / Beteiligte Person:	Keeling, BH ; Vilariño-Güell, C ; Soto-Ortolaza, AI ; Ross, OA ; Uitti, RJ ; Rajput, A ; Wszolek, ZK ; Farrer, MJ
Zeitschrift:	Parkinsonism & related disorders, Jg. 16 (2010-02-01), Heft 2, S. 112-4
Veröffentlichung:	Kidlington, Oxford, U.K. ; Tarrytown, NY : Elsevier Science, c1995-, 2010
Medientyp:	academicJournal
ISSN:	1873-5126 (electronic)
DOI:	10.1016/j.parkreldis.2009.08.011
Schlagwort:	Adult Aged Aged, 80 and over Female Gene Frequency Genetic Predisposition to Disease Genome-Wide Association Study Genotype Humans Male Middle Aged Psychiatric Status Rating Scales Essential Tremor genetics Histamine N-Methyltransferase genetics Isoleucine genetics Parkinson Disease genetics Polymorphism, Genetic genetics Threonine genetics
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Language: English [Parkinsonism Relat Disord] 2010 Feb; Vol. 16 (2), pp. 112-4. <i>Date of Electronic Publication: </i>2009 Sep 20. MeSH Terms: Essential Tremor / genetics ; Histamine N-Methyltransferase / genetics ; Isoleucine / genetics ; Parkinson Disease / genetics ; Polymorphism, Genetic / genetics ; Threonine / genetics ; Adult ; Aged ; Aged, 80 and over ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Male ; Middle Aged ; Psychiatric Status Rating Scales References: Neuromolecular Med. 2008;10(1):10-6. (PMID: 17985251) ; Clin Geriatr Med. 2006 Nov;22(4):843-57, vii. (PMID: 17000339) ; Parkinsonism Relat Disord. 2007 Mar;13(2):67-76. (PMID: 16887374) ; J Neurochem. 2000 Aug;75(2):540-52. (PMID: 10899929) ; Nat Rev Genet. 2006 Apr;7(4):306-18. (PMID: 16543934) ; Exp Neurol. 2000 May;163(1):20-30. (PMID: 10785440) ; Parkinsonism Relat Disord. 2005 May;11(3):139-45. (PMID: 15823477) ; Curr Opin Neurol. 2007 Aug;20(4):447-52. (PMID: 17620881) ; J Neurosci Res. 1994 Aug 1;38(5):565-74. (PMID: 7529327) ; Mol Pharmacol. 1998 Apr;53(4):708-17. (PMID: 9547362) ; Brain. 2007 Jun;130(Pt 6):1456-64. (PMID: 17353225) ; J Neurol Neurosurg Psychiatry. 2009 Apr;80(4):423-5. (PMID: 19289477) ; Arch Neurol. 1998 Jun;55(6):823-8. (PMID: 9626774) ; Nat Clin Pract Neurol. 2006 Dec;2(12):666-78; quiz 2p following 691. (PMID: 17117170) ; Neuromolecular Med. 2008;10(4):356-61. (PMID: 18543121) ; Biochemistry. 2008 Jan 22;47(3):893-901. (PMID: 18154359) Grant Information: R01 NS057567 United States NS NINDS NIH HHS; 121849 Canada CAPMC CIHR; R01 AG015866 United States AG NIA NIH HHS; P01 NS040256 United States NS NINDS NIH HHS; P01 AG017216 United States AG NIA NIH HHS; P01 NS040256-019002 United States NS NINDS NIH HHS; P50 NS040256 United States NS NINDS NIH HHS; P50 NS40256 United States NS NINDS NIH HHS Substance Nomenclature: 04Y7590D77 (Isoleucine) ; 2ZD004190S (Threonine) ; EC 2.1.1.8 (Histamine N-Methyltransferase) Entry Date(s): Date Created: 20090924 Date Completed: 20100504 Latest Revision: 20211020 Update Code: 20240513 PubMed Central ID: PMC2845175

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