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Single nucleotide polymorphisms and haplotype frequencies of CYP3A5 in a Japanese population
Author(s) -
Saeki Mayumi,
Saito Yoshiro,
Nakamura Takahiro,
Murayama Norie,
Kim SuRyang,
Ozawa Shogo,
Komamura Kazuo,
Ueno Kazuyuki,
Kamakura Shiro,
Nakajima Toshiharu,
Saito Hirohisa,
Kitamura Yutaka,
Kamatani Naoyuki,
Sawada Junichi
Publication year - 2003
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9147
Subject(s) - biology , haplotype , genetics , single nucleotide polymorphism , allele frequency , population , genotype , gene , demography , sociology
In order to identify single nucleotide polymorphisms (SNPs) and haplotype frequencies of CYP3A5 in a Japanese population, we sequenced the proximal promoter region, all exons, and the surrounding intronic regions using genomic DNA from 187 Japanese subjects. Thirteen SNPs, including seven novel ones: 13108T>C, 16025A>G, 16903A>G, 16993C>G, 27448C>A, 29782A>G, and 31551T>C (A of the translational start codon of GenBank Accession # NG_4.2 is numbered “1” according to the CYP Allele Nomenclature), were identified. The most common SNP was 6986A>G (key SNP for CYP3A5 * 3 ), with a 0.759 frequency. Two novel SNPs, 29782A>G (I456V) and 31551T>C (I488T), as well as 12952T>C ( * 5 marker) were found, but these alterations were always associated with the * 3A marker SNPs, 6986A>G and 31611C>T. Using these 13 SNPs, haplotype analysis was performed and five novel * 1 haplotypes (subtypes) ( * 1e to * 1i ) and six novel * 3 haplotypes (subtypes) ( * 3d to * 3i ) were identified. Our findings suggest that CYP3A5 * 3 is the major defective allele and that other functional exonic SNPs are rare in the Japanese. © 2003 Wiley‐Liss, Inc.