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

• Published in: DRUG METABOLISM AND PHARMACOKINETICS Vol. 24; no. 3; pp. 277 - 281
• Main Authors: Kim, Su-Ryang, Saito, Yoshiro, Itoda, Masaya, Maekawa, Keiko, Kawamoto, Manabu, Kamatani, Naoyuki, Ozawa, Shogo, Sawada, Jun-ichi
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.01.2009; Japanese Society for the Study of Xenobiotics
• Subjects: ABCB11; amino acid change; Asian Continental Ancestry Group - genetics; ATP Binding Cassette Subfamily B Member 11; ATP-Binding Cassette Transporters - genetics; BSEP; direct sequencing; Exons; Gene Frequency; Genetic Variation; Humans; Introns; Japan; novel genetic variation; Polymorphism, Single Nucleotide; novel genetic variation; direct sequencing; BSEP; ABCB11; amino acid change
• ISSN: 1347-4367; 1880-0920; 1880-0920
• DOI: 10.2133/dmpk.24.277

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.