RGD Reference Report - Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. - Rat Genome Database

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Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis.

Authors: Del Giudice, EM  Perrotta, S  Nobili, B  Specchia, C  D'Urzo, G  Iolascon, A 
Citation: del Giudice EM, etal., Blood. 1999 Oct 1;94(7):2259-62.
RGD ID: 6482853
Pubmed: PMID:10498597   (View Abstract at PubMed)

The precocious formation of bilirubinate gallstones is the most common complication of hereditary spherocytosis (HS), and the prevention of this problem represents a major impetus for splenectomy in many patients with compensated hemolysis. Because Gilbert syndrome has been considered a risk factor for gallstone formation, there are reasons for postulating that the association of this common inherited disorder of hepatic bilirubin metabolism with HS could increase cholelithiasis. To test this hypothesis, 103 children with mild to moderate HS who, from age 1, have undergone a liver and biliary tree ultrasonography every year, were retrospectively examined. The 2-bp (TA) insertion within the promoter of the uridine diphosphate-glucuronosyltransferase gene (UGT1A1), associated with Gilbert syndrome, was screened. The risk of developing gallstones was statistically different among the 3 groups of patients: homozygotes for the normal UGT1A1 allele, heterozygotes, and homozygotes for the allele with the TA insertion. Fitting a Cox regression model, in fact, a statistically significant hazard ratio of 2.19 (95% confidence interval: 1.31 to 3.66) was estimated from one to the next of these genetic classes. The individual proneness to form gallstones from TA insertion in the TATA-box of the UGT1A1 promoter should be considered during the follow-up of patients with HS. Although patients with HS were the only ones studied, extrapolating these data to patients who have different forms of inherited (eg, thalassemia, intraerythrocytic enzymatic deficiency) or acquired (eg, autoimmune hemolytic anemia, hemolysis from mechanical heart valve replacement) chronic hemolysis can be warranted.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
cholelithiasis susceptibilityIAGP 6482853associated with Spherocytosis more ...RGD 
cholelithiasis susceptibilityISOUGT1A1 (Homo sapiens)6482853; 6482853associated with Spherocytosis more ...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