title: Genetic polymorphism of bile acid CoA: amino acid N-acyltransferase in Japanese individuals.
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.
authors.affiliation: Clinical Evaluation of Medicines and Therapeutics, Graduate School of Pharmaceutical Sciences, Osaka University, Japan.
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Tougou
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Fukuda
authors.forename: Takashi
authors.initials: T
authors.lastname: Ito
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yamazaki
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Fujio
authors.forename: Junichi
authors.initials: J
authors.lastname: Azuma
mesh_terms: D000217:Acyltransferases / Q000235:genetics* / Q000378:metabolism; D044466:Asian People / Q000235:genetics*; D003596:Cytosine; D004252:DNA Mutational Analysis; D005091:Exons; D005787:Gene Frequency; D005838:Genotype; D006147:Guanine; D006239:Haplotypes; D006801:Humans; D007438:Introns; D007564:Japan; D008099:Liver / Q000201:enzymology*; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D013941:Thymine; D044465:White People / Q000235:genetics*
chemical_list: D006147:Guanine; D003596:Cytosine; D000217:Acyltransferases; C026953:bile acid-CoA amino acid N-acyltransferase; D013941:Thymine