RGD Reference Report - The linear effects of alpha-thalassaemia, the UGT1A1 and HMOX1 polymorphisms on cholelithiasis in sickle cell disease. - Rat Genome Database

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The linear effects of alpha-thalassaemia, the UGT1A1 and HMOX1 polymorphisms on cholelithiasis in sickle cell disease.

Authors: Vasavda, N  Menzel, S  Kondaveeti, S  Maytham, E  Awogbade, M  Bannister, S  Cunningham, J  Eichholz, A  Daniel, Y  Okpala, I  Fulford, T  Thein, SL 
Citation: Vasavda N, etal., Br J Haematol. 2007 Jul;138(2):263-70.
RGD ID: 10769341
Pubmed: PMID:17593033   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1365-2141.2007.06643.x   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
cholelithiasis susceptibilityIAGP 10769341associated with Alpha-Thalassemia and DNA:repeat:promoter:(TA)RGD 
cholelithiasis susceptibilityISOUGT1A1 (Homo sapiens)10769341; 10769341associated with Alpha-Thalassemia and DNA:repeat:promoter:(TA)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Hyperbilirubinemia  IAGP 10769341DNA:repeat:promoter:(TA)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Ugt1a1  (UDP glucuronosyltransferase family 1 member A1)

Genes (Mus musculus)
Ugt1a1  (UDP glucuronosyltransferase 1 family, polypeptide A1)

Genes (Homo sapiens)
UGT1A1  (UDP glucuronosyltransferase family 1 member A1)


Additional Information