Identification of 197 genetic variations in six human methyltranferase genes in the Japanese population

J Hum Genet. 2001;46(9):529-37. doi: 10.1007/s100380170035.

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.

MeSH terms

  • 3' Untranslated Regions / genetics
  • 5' Untranslated Regions / genetics
  • Asian Continental Ancestry Group / genetics*
  • Base Sequence
  • Catechol O-Methyltransferase / genetics
  • Chromosome Mapping
  • Exons
  • Genetic Variation*
  • Guanidinoacetate N-Methyltransferase
  • Histamine N-Methyltransferase / genetics
  • Humans
  • Introns
  • Japan
  • Methyltransferases / genetics*
  • Nicotinamide N-Methyltransferase
  • Phenylethanolamine N-Methyltransferase / genetics
  • Phosphatidylethanolamine N-Methyltransferase
  • Polymorphism, Single Nucleotide*

Substances

  • 3' Untranslated Regions
  • 5' Untranslated Regions
  • Methyltransferases
  • NNMT protein, human
  • Nicotinamide N-Methyltransferase
  • PEMT protein, human
  • Phosphatidylethanolamine N-Methyltransferase
  • GAMT protein, human
  • Guanidinoacetate N-Methyltransferase
  • Phenylethanolamine N-Methyltransferase
  • Catechol O-Methyltransferase
  • Histamine N-Methyltransferase