Abstract
Methylation is an important event in the biotransformation pathway for many drugs and xenobiotic compounds. We screened DNA from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in six methyltransferase (MT) genes (catechol-O-MT, COMT; guanidinoacetate N-MT, GAMT; histamine N-MT, HNMT; nicotinamide N-MT, NNMT; phosphatidylethanolamine N-MT, PEMT; and phenylethanolamine N-MT, PNMT) by direct sequencing of their entire genomic regions except for repetitive elements. This approach identified 190 SNPs and seven insertion/deletion polymorphisms among the six genes. Of the 190 SNPs, 33 were identified in the COMT gene, 6 in GAMT, 41 in HNMT, 8 in NNMT, 98 in PEMT, and 4 in PNMT. Nine were located in 5′ flanking regions, 156 in introns, 10 in exons, and 15 in 3′ flanking regions. These variants may contribute to a more precise understanding of possible correlations between genotypes and disease-susceptibility phenotypes or risk for side effects from drugs.
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Received: May 17, 2001 / Accepted: June 18, 2001
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Saito, S., Iida, A., Sekine, A. et al. Identification of 197 genetic variations in six human methyltransferase genes in the Japanese population. J Hum Genet 46, 529–537 (2001). https://doi.org/10.1007/s100380170035
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DOI: https://doi.org/10.1007/s100380170035
- Key words Single-nucleotide polymorphism (SNP)
- Catechol-O-methyltransferase gene (COMT)
- Guanidinoacetate N-methyltransferase gene (GAMT)
- Histamine N-methyltransferase gene (HNMT)
- Nicotinamide N-methyltransferase gene (NNMT)
- Phosphatidylethanolamine N-methyltransferase gene (PEMT)
- Phenylethanolamine N-methyltransferase gene (PNMT)
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