期刊
BRITISH JOURNAL OF HAEMATOLOGY
卷 138, 期 2, 页码 263-270出版社
WILEY
DOI: 10.1111/j.1365-2141.2007.06643.x
关键词
UGT1A1; HO-1; alpha-thalassaemia; sickle cell disease; cholelithiasis
类别
资金
- Medical Research Council [G0000111] Funding Source: Medline
- Medical Research Council [G0000111] Funding Source: researchfish
- MRC [G0000111] Funding Source: UKRI
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 a 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 a-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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