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Genetic Variations of the ABC Transporter Gene ABCB11 Encoding the Human Bile Salt Export Pump (BSEP) in a Japanese Population

https://doi.org/10.2133/dmpk.24.277Get rights and content

Summary:

The bile sait export pump (BSEP) encoded by ABCB11 is located in the canalicular membrane of hepatocytes and mediates the secretion of numerous conjugated bile salts into the bile canaliculus. In this study, 28 ABCB11 exons (including non-coding exon 1) and their flanking introns were comprehensively screened for genetic variations in 120 Japanese subjects. Fifty-nine genetic variations, including 19 novel ones, were found: 14 in the coding exons (6 nonsynonymous and 8 synonymous variations), 4 in the 3'-UTR, and 41 in the introns. Three novel nonsynonymous variations, 361C>A (Gln121Lys), 667C>T (Arg223Cys), and 1460G>T (Arg487Leu), were found as heterozygotes and at 0.004 allele frequencies. These data provide fundamental and useful information for genotyping ABCB11 in the Japanese and probably other Asian populations.

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As of February 9, 2009, the novel variations reported here are not found in the database of Japanese Single Nucleotide Polymorphisms (http://snp.ims.u-tokyo.ac.jp/), dbSNP in the National Center for Biotechnology Information (http://www.ncbi.nlm.nih.gov/SNP/), or the PharmGKB Database (http://www.pharmgkb.org/).

This study was supported in part by the Program for the Promotion of Fundamental Studies in Health Sciences of the National Institute of Biomedical Innovation, and the Health and Labor Sciences Research Grants from the Ministry of Health, Labor and Welfare.

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