Genetic polymorphism of bile acid CoA: amino acid N-acyltransferase in Japanese individuals

Drug Metab Pharmacokinet. 2007 Apr;22(2):125-8. doi: 10.2133/dmpk.22.125.

Abstract

In the present study, we identified three novel single nucleotide polymorphisms (SNPs), 147C>T in exon 2 (silent), 602G>C in exon 3 (Arg201Pro), and 1134C>T in exon 4 (silent), in the gene of bile acid CoA: amino acid N-acyltransferase (BAAT) by resequencing the entire coding region and the exon-intron junctions of 100 Japanese individuals. The allelic frequencies were 0.005 for 147C>T, 0.095 for 602G>C, and 0.015 for 1134C>T. The two known SNPs, 59G>A (Arg20Gln, rs1572983) and UTR1513G>A (rs2229594), were detected at a frequency of 0.500 and 0.425, respectively. In the haplotype analysis for the 59G>A and 602G>C polymorphisms, the allelic frequency of 59G-602G, 59G-602C, 59A-602G and 59A-602C was 0.405, 0.095, 0.500 and 0.000, respectively. On the other hand, the allelic frequency of the nonsynonymous SNP 602G>C was 0.194 in a Caucasian population.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acyltransferases / genetics*
  • Acyltransferases / metabolism
  • Asian People / genetics*
  • Cytosine
  • DNA Mutational Analysis
  • Exons
  • Gene Frequency
  • Genotype
  • Guanine
  • Haplotypes
  • Humans
  • Introns
  • Japan
  • Liver / enzymology*
  • Polymerase Chain Reaction / methods
  • Polymorphism, Single Nucleotide*
  • Thymine
  • White People / genetics*

Substances

  • Guanine
  • Cytosine
  • Acyltransferases
  • bile acid-CoA amino acid N-acyltransferase
  • Thymine