Polymorphisms in the catechol-O-methyltransferase (COMT) gene influence plasma total homocysteine levels.

Journal article

Elevated plasma total homocysteine (tHcy) is a risk factor for various disorders. We investigated whether functional polymorphisms in catechol-O-methyltransferase (COMT) influence tHcy, since COMT activity produces S-adenosylhomocysteine (SAH), a homocysteine precursor. We hypothesized that high activity COMT variants would be associated with high tHcy, since they presumably result in increased formation of SAH. We genotyped 780 community-dwelling elderly individuals for functional COMT (Val(...

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Authors: Tunbridge, E; Harrison, P; Warden, DR; Johnston, C; Refsum, H

• Publication status: Published
• Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
• Volume: 147B
• Issue: 6
• Pages: 996-999
• Publication date: 2008-09-01
• DOI: 10.1002/ajmg.b.30700
• EISSN: 1552-485X
• ISSN: 1552-4841
• Language: English
• Keywords: Models, Biological; Humans; Genotype; Epistasis, Genetic; Middle Aged; Female; Alleles; Male; Case-Control Studies; Polymorphism, Single Nucleotide; Catechol O-Methyltransferase; Homocysteine; Linkage Disequilibrium; Aged; Aged, 80 and over; Methylenetetrahydrofolate Reductase (NADPH2)