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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2007-6-26
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pubmed:abstractText |
Serum bilirubin levels and predisposition to gallstones in sickle cell disease (SCD) are influenced by genetic variation in the hepatic uridine diphosphate (UDP)-glucuronosyltransferase (UGT1A1) gene, but the association is not consistent. This study investigated whether variation in the gene encoding haem oxygenase (HMOX1), a rate-limiting enzyme upstream of UGT1A in the haem catabolic pathway, and alpha-thalassaemia could explain some of the inconsistent effects. The UGT1A1 [TA](n) and HMOX1 [GT](n) promoter polymorphisms and alpha globin genotypes were determined in 263 SCD patients (199 HbSS, 5 HbS/beta(0), 59 HbSC). Detection of gallstones was based on ultrasound of the liver/biliary tree. Regression analysis showed that serum bilirubin levels and the incidence of gallstones were strongly associated with the number of UGT1A1 [TA] repeats in all subjects (P < 0.0001 and P < 0.01, respectively). While HMOX1 genotype had no effect, co-inheritance of alpha-thalassaemia reduced serum bilirubin levels in all SCD patients independently of the number of UGT1A1 [TA] repeats. Each additional [TA] repeat is associated with an increase in mean serum bilirubin levels of 21% and cholelithiasis risk of 87% in SCD.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0007-1048
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pubmed:author |
pubmed-author:AwogbadeMojiM,
pubmed-author:BannisterSybilS,
pubmed-author:CunninghamJulietteJ,
pubmed-author:DanielYvonneY,
pubmed-author:EichholzAndrewA,
pubmed-author:FulfordTonyT,
pubmed-author:KondaveetiSheilaS,
pubmed-author:MaythamEmmaE,
pubmed-author:MenzelStephanS,
pubmed-author:OkpalaIheanyiI,
pubmed-author:TheinSwee LaySL,
pubmed-author:VasavdaNishaN
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pubmed:issnType |
Print
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pubmed:volume |
138
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
263-70
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:17593033-Adolescent,
pubmed-meshheading:17593033-Adult,
pubmed-meshheading:17593033-Aged,
pubmed-meshheading:17593033-Anemia, Sickle Cell,
pubmed-meshheading:17593033-Bilirubin,
pubmed-meshheading:17593033-Child,
pubmed-meshheading:17593033-Female,
pubmed-meshheading:17593033-Gallstones,
pubmed-meshheading:17593033-Genotype,
pubmed-meshheading:17593033-Globins,
pubmed-meshheading:17593033-Glucuronosyltransferase,
pubmed-meshheading:17593033-Heme Oxygenase-1,
pubmed-meshheading:17593033-Hemoglobin SC Disease,
pubmed-meshheading:17593033-Humans,
pubmed-meshheading:17593033-Male,
pubmed-meshheading:17593033-Middle Aged,
pubmed-meshheading:17593033-Polymorphism, Genetic,
pubmed-meshheading:17593033-Promoter Regions, Genetic,
pubmed-meshheading:17593033-Risk Assessment,
pubmed-meshheading:17593033-alpha-Thalassemia
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pubmed:year |
2007
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pubmed:articleTitle |
The linear effects of alpha-thalassaemia, the UGT1A1 and HMOX1 polymorphisms on cholelithiasis in sickle cell disease.
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pubmed:affiliation |
King's College London School of Medicine, Division of Gene and Cell Based Therapy, London, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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