Gilbert syndrome as a predisposing factor for cholelithiasis risk in the Greek adult population

Genet Test Mol Biomarkers. 2009 Feb;13(1):143-6. doi: 10.1089/gtmb.2008.0095.

Abstract

We investigated the hypothesis that coinheritance of the common A(TA)(n)TAA promoter mutation at the UGT1A1 locus associated with Gilbert syndrome is a risk factor for gallstone formation in a homogeneous adult population, by conducting a case-control study that included 198 adult patients with cholelithiasis and 152 healthy controls both of Greek origin. Three genotypes were found: 7/7 (17.8% in controls and 23.3% in patients), 6/7 (33.5% in controls and 46.5% in patients), and normal homozygous 6/6 (48.7% in controls and 30.3% in patients). The Gilbert UGT1A1 genotypes 6/7 and 7/7 show significant association (odds ratio 2.225, 95% confidence interval 1.373-3.605, p=0.001, and odds ratio 2.101, 95% confidence interval 1.171-3.770, p=0.013, respectively) with cholelithiasis risk. This association supports the theory that genetic factors are responsible for a fraction of symptomatic gallstone disease; however, further studies are required in different ethnic groups to fully elucidate the involvement of Gilbert syndrome in gallstone disease.

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Case-Control Studies
  • Cholelithiasis / enzymology
  • Cholelithiasis / etiology*
  • Cholelithiasis / genetics*
  • DNA Repeat Expansion
  • Dinucleotide Repeats
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Gilbert Disease / complications*
  • Gilbert Disease / enzymology
  • Gilbert Disease / genetics*
  • Glucuronosyltransferase / genetics
  • Greece
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Promoter Regions, Genetic
  • Risk Factors
  • Young Adult

Substances

  • UGT1A1 enzyme
  • Glucuronosyltransferase