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Combined effect of regulatory polymorphisms on transcription of UGT1A1 as a cause of Gilbert syndrome by Katsuyuki Matsui; Yoshihiro Maruo; Hiroshi Sato; Yoshihiro Takeuchi is a Medicine article available to read on EtoBox.

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## Abstract ## Background Gilbert syndrome is caused by defects in bilirubin UDP-glucuronosyltransferase (UGT1A1). The most common variation believed to be involved is A(TA)7TAA. Although several polymorphisms have been found to link with A(TA)7TAA, the combined effect of regulatory polymorphisms in the development of Gilbert syndrome remains unclear. ## Methods In an analysis of 15 patients and 60 normal subjects, we detected 14 polymorphisms and nine haplotypes in the regulatory region. We classified the 4-kbp regulatory region of the patients into: the TATA box including A(TA)7TAA; a phenobarbital responsive enhancer module including c.-3275T>G; and a region including other ten linked polymorphisms. The effect on transcription of these polymorphisms was studied. ## Results All haplotypes with A(TA)7TAA had c.-3275T>G and additional polymorphisms. In an __in-vitro__ expression study of the 4-kbp regulatory region, A(TA)7TAA alone did not significantly reduce transcription. In contrast, c.-3275T>G reduced transcription to 69% of that of wild type, and the linked polymorphisms reduced transcription to 88% of wild type. Transcription of the typical regulatory region of the patients

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Author

Katsuyuki Matsui; Yoshihiro Maruo; Hiroshi Sato; Yoshihiro Takeuchi

Publisher

BioMed Central; Springer (Biomed Central Ltd.); London: BioMed Central, 2001-; Springer Science and Business Media LLC; Society for Mining, Metallurgy and Exploration Inc. (ISSN 1471-230X)

Published

2010

Language

EN

Field

Medicine (Health Sciences)