title: Gilbert syndrome as a predisposing factor for cholelithiasis risk in the Greek adult population.
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.
authors.affiliation: Laboratory of Cytogenetics and Medical Genetics, Medical School, University of Thessaly Larissa, Larissa, Greece.
authors.forename: Aspasia
authors.initials: A
authors.lastname: Tsezou
authors.forename: Maria
authors.initials: M
authors.lastname: Tzetis
authors.forename: Eirini
authors.initials: E
authors.lastname: Giannatou
authors.forename: Ierotheos
authors.initials: I
authors.lastname: Spanos
authors.forename: Eleutheria
authors.initials: E
authors.lastname: Roma
authors.forename: Alexandros
authors.initials: A
authors.lastname: Fretzayas
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
authors.forename: Sofia
authors.initials: S
authors.lastname: Kitsiou-Tzeli
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D002769:Cholelithiasis / Q000201:enzymology / Q000209:etiology* / Q000235:genetics*; D042622:DNA Repeat Expansion; D018900:Dinucleotide Repeats; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005878:Gilbert Disease / Q000150:complications* / Q000201:enzymology / Q000235:genetics*; D014453:Glucuronosyltransferase / Q000235:genetics; D006115:Greece; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011401:Promoter Regions, Genetic; D012307:Risk Factors; D055815:Young Adult; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme