Single nucleotide polymorphisms and haplotype frequencies of CYP3A5 in a Japanese population

✍ Scribed by Mayumi Saeki; Yoshiro Saito; Takahiro Nakamura; Norie Murayama; Su-Ryang Kim; Shogo Ozawa; Kazuo Komamura; Kazuyuki Ueno; Shiro Kamakura; Toshiharu Nakajima; Hirohisa Saito; Yutaka Kitamura; Naoyuki Kamatani; Jun-ichi Sawada

• Publisher: John Wiley and Sons
• Year: 2003
• Tongue: English
• Weight: 61 KB
• Volume: 21
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.9147

✦ Synopsis

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_000004.2 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.