title: A novel variant allele of OATP-C (SLCO1B1) found in a Japanese patient with pravastatin-induced myopathy.
abstract: We have recently found that the frequency of OATP-C*15 is significantly higher in patients who experienced myopathy after receiving pravastatin or atorvastatin than in patients without myopathy. However, there were two patients who experienced pravastatin-induced myopathy despite the fact that they did not possess OATP-C*15 or other known mutations of OATP-C that have been reported to decrease the function of OATP-C. In this study, we sequenced all of the exons and exon-intron junctions of OATP-C of the two patients and found a novel mutation in exon 12 of OATP-C in one of the patients. In this mutation (1628T>G), there is a substitution of Leu to Trp at position 543 in transmembrane-spanning domain 10 of OATP-C. However, the frequency of this mutation in the Japanese population appears to be very low (<1%).
authors.affiliation: Laboratory of Pharmacology and Toxicology, Graduate School of Pharmaceutical Sciences, Chiba University, Japan.
authors.forename: Kaori
authors.initials: K
authors.lastname: Morimoto
authors.forename: Tomoharu
authors.initials: T
authors.lastname: Oishi
authors.forename: Shiro
authors.initials: S
authors.lastname: Ueda
authors.forename: Madoka
authors.initials: M
authors.lastname: Ueda
authors.forename: Masakiyo
authors.initials: M
authors.lastname: Hosokawa
authors.forename: Kan
authors.initials: K
authors.lastname: Chiba
mesh_terms: D000483:Alleles; D004247:DNA / Q000096:biosynthesis / Q000235:genetics; D017931:DNA Primers; D005091:Exons / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D007564:Japan; D027381:Liver-Specific Organic Anion Transporter 1 / Q000378:metabolism*; D009135:Muscular Diseases / Q000139:chemically induced* / Q000378:metabolism*; D009154:Mutation; D017035:Pravastatin / Q000494:pharmacology*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D027381:Liver-Specific Organic Anion Transporter 1; D004247:DNA; D017035:Pravastatin