Naslov
Genotype frequencies Of UDP- glucuronosyltransferase 1A1 promoter gene polymorphism in the population of healthy Croatian pre-scholars

Autori
Marinković, Natalija ; Pašalić, Daria ; Gršković, Branka ; Ferenčak, Goran ; Honović, Lorena ; Stavljenić Rukavina, Ana

Izvornik
Collegium Antropologicum (0350-6134) 32 (2008), 3; 725-729

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
unconjugated hiperbilirubinemia ; Gilbert syndrome ; UGT1A1 gene ; polymorphism

Sažetak
Increased serum bilirubin levels in patients with Gilbert syndrome (GS) are caused by reduction of hepatic activity of bilirubin glucuronsyltranferase to about 30% of normal. UGT1A1 genetic polymorphism with absent or very low UGT1A1 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.

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita

POVEZANOST RADA