title: Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia.
abstract: Cholelithiasis has been reported with a variable incidence in homozygous beta-thalassaemia, the reasons for which have only partially been defined. Disease-associated factors or specific modifier genes may be implicated. We assessed the prevalence of cholelithiasis and the effect of co-inherited Gilbert's syndrome genotype on its development in 261 thalassaemia major (TM) and 35 thalassaemia intermedia (TI) patients. Cholelithiasis was found in 20.3% of TM and in 57.1% of TI patients. Its incidence was higher (P < 0.05) in patients homozygous for the (TA7) motif in the promoter of the UGT1-A1 gene, the genotype associated with Gilbert's syndrome, which seems to be a risk factor for the development of gallstones in TM and TI patients.
authors.affiliation: Ospedale Regionale Microcitemie, Dipartimento di Scienze Biomediche e Biotecnologie, University of Cagliari, Via Jenner s.n. 09121, Cagliari, Italy. renzo.galanello@mcweb.unica.it
authors.forename: R
authors.initials: R
authors.lastname: Galanello
authors.forename: S
authors.initials: S
authors.lastname: Piras
authors.forename: S
authors.initials: S
authors.lastname: Barella
authors.forename: G B
authors.initials: GB
authors.lastname: Leoni
authors.forename: M D
authors.initials: MD
authors.lastname: Cipollina
authors.forename: L
authors.initials: L
authors.lastname: Perseu
authors.forename: A
authors.initials: A
authors.lastname: Cao
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002769:Cholelithiasis / Q000209:etiology* / Q000235:genetics; D005260:Female; D005838:Genotype; D005878:Gilbert Disease / Q000235:genetics*; D014453:Glucuronosyltransferase / Q000235:genetics; D006720:Homozygote; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D011401:Promoter Regions, Genetic; D012307:Risk Factors; D016385:TATA Box; D017086:beta-Thalassemia / Q000235:genetics*; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme