Global variation in the frequencies of functionally different catechol-O-methyltransferase alleles by Palmatier M A, Kang A M, Kidd K K in Biological psychiatry (1999). PubMed

Abstract

Catechol-O-methyltransferase (COMT) has been investigated as a candidate gene in many neurologic disorders involving catecholaminergic systems. The NlaIII restriction site polymorphism (RSP) at COMT is a G<-->A (site absent<-->site present) single nucleotide polymorphism (SNP) at nucleotide 322/472 (in the short or long mRNA) that results in a Val<-->Met polymorphism at amino acid 108/158 (in soluble or membrane-bound) COMT protein and different enzyme activity levels, high for Val, low for Met. COMT enzyme activity is known to vary among ethnic groups, presumably as a result of different population frequencies of these COMT alleles. We have undertaken a direct survey of allele frequencies of this polymorphism in a global sample of populations.

[ hide abstract ]

Discussed In Paper

Related In Paper

Variant Annotations

None.