Document Detail

Pharmacogenetics of Gilbert's syndrome.
MedLine Citation:
PMID:  18518849     Owner:  NLM     Status:  MEDLINE    
Gilbert's syndrome is characterized by mild unconjugated nonhemolytic hyperbilirubinemia, which does not lead to hepatic inflammation, fibrosis, chronic liver disease or liver failure. Almost 100 years after its clinical description, it was linked to a genetic variant of the human bilirubin UDP-glucuronosyltransferase (UGT1A1), UGT1A1 (*)28, found in approximately 40% of Caucasoid individuals. Over 113 UGT1A1 variants have since been reported, leading to a continuous spectrum from mild hyperbilirubinemia to life-threatening jaundice. UGT1A variants are evolutionary diverse and occur in the context of haplotypes combining different variants within the promoter, the 5 exons, as well as introns of the UGT1A1 gene, and also in combination with other UGT1A genes expressed in the liver and the extrahepatic gastrointestinal tract. The variation of glucuronidation hidden behind Gilbert's syndrome impacts drug therapy, which includes the well-characterized examples of irinotecan and atazanavir. The prediction of unwanted drug reactions associated with Gilbert's syndrome will improve drug safety, therapeutic individualization and impact the drug-development process.
Christian P Strassburg
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Pharmacogenomics     Volume:  9     ISSN:  1744-8042     ISO Abbreviation:  Pharmacogenomics     Publication Date:  2008 Jun 
Date Detail:
Created Date:  2008-06-03     Completed Date:  2008-07-21     Revised Date:  2014-03-28    
Medline Journal Info:
Nlm Unique ID:  100897350     Medline TA:  Pharmacogenomics     Country:  England    
Other Details:
Languages:  eng     Pagination:  703-15     Citation Subset:  IM    
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MeSH Terms
Bilirubin / metabolism
Drug-Related Side Effects and Adverse Reactions / enzymology,  genetics*
Genetic Variation
Gilbert Disease* / enzymology,  genetics,  metabolism
Glucuronosyltransferase / genetics*
Neoplasms / drug therapy,  enzymology,  genetics
Pharmaceutical Preparations / metabolism
Reg. No./Substance:
0/Pharmaceutical Preparations; EC; RFM9X3LJ49/Bilirubin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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