title: Genotype frequencies of UDP-glucuronosyltransferase 1A1 promoter gene polymorphism in the population of healthy Croatian pre-scholars.
abstract: Increased serum bilirubin levels in patients with Gilbert syndrome (GS) are caused by reduction of hepatic activity of bilirubin glucuronosyltranferase to about 30% of normal. UGT1A1 genetic polymorphism with absent or very low bilirubin UDP-glucuronosyltransferase (B-UGT) activity is associated with Gilbert's syndrome (GS) and other hyperbilirubinemias. The genetic basis of GS is the insertion of two additional TA nucleotides (resulting in seven repeats of TA) in the TATAA box, present in proximal promoter of UGT1A1 gene. This study included 323 Croatian pre-scholars, including 164 boys and 159 girls. Statistical analysis showed significant difference for total bilirubin concentration between different genotypes (p < 0.001). Also, statistically significant difference for total bilirubin concentration was emphasized between genotypes 6/6 and 7/7 (p < 0.001) as well as 6/7 and 7/7 (p < 0.001). Higher total plasma bilirubin concentrations are significantly correlated with 7/7 genotype which is present in 9.8% of population studied.
authors.affiliation: Department of Chemistry and Biochemistry, School of Medicine, University of Zagreb, Zagreb, Croatia. nmarinko@snz.hr
authors.forename: Natalija
authors.initials: N
authors.lastname: Marinković
authors.forename: Daria
authors.initials: D
authors.lastname: Pasalić
authors.forename: Branka
authors.initials: B
authors.lastname: Grsković
authors.forename: Goran
authors.initials: G
authors.lastname: Ferencak
authors.forename: Lorena
authors.initials: L
authors.lastname: Honović
authors.forename: Ana Stavljenić
authors.initials: AS
authors.lastname: Rukavina
mesh_terms: D002675:Child, Preschool; D017523:Croatia / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D005838:Genotype; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D006932:Hyperbilirubinemia / Q000235:genetics; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D015995:Prevalence; D011401:Promoter Regions, Genetic / Q000235:genetics*; D016385:TATA Box / Q000235:genetics; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme