A novel variant allele of OATP-C (SLCO1B1) found in a Japanese patient with pravastatin-induced myopathy.
A novel variant allele of OATP-C (SLCO1B1) found in a Japanese patient with pravastatin-induced myopathy.
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DOI：
10.2133/dmpk.19.453
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发表时间：
2004-12-01
影响因子：
2.1
通讯作者：
Chiba, Kan
中科院分区：
文献类型：
--
作者：
Morimoto, Kaori;Oishi, Tomoharu;Chiba, Kan
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 (
