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Combined effect of regulatory polymorphisms on transcription of UGT1A1 as a cause of Gilbert syndrome

8 Jun 2010

Abstract excerpt

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...

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PMID: 20529348
DOI: 10.1186/1471-230x-10-57

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