Original scientific paper
Genotype Frequencies of UDP-Glucuronosyltransferase 1A1 Promoter Gene Polymorphism in the Population of Healthy Croatian Pre-Scholars
Natalija Marinković
Daria Pašalić
orcid.org/0000-0002-5741-6168
Branka Gršković
Goran Ferenčak
Lorena Honović
orcid.org/0000-0002-0860-084X
Ana Stavljenić Rukavina
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.
Keywords
unconjugated hyperbilirubinemia; Gilbert syndrome; UGT1A1 gene; polymorphism
Hrčak ID:
27040
URI
Publication date:
2.9.2008.
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