Gilbert syndrome as a predisposing factor for cholelithiasis risk in the Greek adult population.
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.
Tsezou
Aspasia
A
Laboratory of Cytogenetics and Medical Genetics, Medical School, University of Thessaly Larissa, Larissa, Greece.
Tzetis
Maria
M
Giannatou
Eirini
E
Spanos
Ierotheos
I
Roma
Eleutheria
E
Fretzayas
Alexandros
A
Kanavakis
Emmanuel
E
Kitsiou-Tzeli
Sofia
S
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
D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme