title: Identification of 197 genetic variations in six human methyltranferase genes in the Japanese population.
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.
authors.affiliation: Laboratory for Genotyping, SNP Research Center, Institute of Physical and Chemical Research, Tokyo, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Saito
authors.forename: A
authors.initials: A
authors.lastname: Iida
authors.forename: A
authors.initials: A
authors.lastname: Sekine
authors.forename: Y
authors.initials: Y
authors.lastname: Miura
authors.forename: T
authors.initials: T
authors.lastname: Sakamoto
authors.forename: C
authors.initials: C
authors.lastname: Ogawa
authors.forename: S
authors.initials: S
authors.lastname: Kawauchi
authors.forename: S
authors.initials: S
authors.lastname: Higuchi
authors.forename: Y
authors.initials: Y
authors.lastname: Nakamura
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D020121:5' Untranslated Regions / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002394:Catechol O-Methyltransferase / Q000235:genetics; D002874:Chromosome Mapping; D005091:Exons; D014644:Genetic Variation; D050937:Guanidinoacetate N-Methyltransferase; D006637:Histamine N-Methyltransferase / Q000235:genetics; D006801:Humans; D007438:Introns; D007564:Japan; D008780:Methyltransferases / Q000235:genetics*; D050903:Nicotinamide N-Methyltransferase; D010625:Phenylethanolamine N-Methyltransferase / Q000235:genetics; D050918:Phosphatidylethanolamine N-Methyltransferase; D020641:Polymorphism, Single Nucleotide
chemical_list: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D008780:Methyltransferases; C494406:NNMT protein, human; D050903:Nicotinamide N-Methyltransferase; C494489:PEMT protein, human; D050918:Phosphatidylethanolamine N-Methyltransferase; C494506:GAMT protein, human; D050937:Guanidinoacetate N-Methyltransferase; D010625:Phenylethanolamine N-Methyltransferase; D002394:Catechol O-Methyltransferase; D006637:Histamine N-Methyltransferase