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

Marinković, Natalija and Pašalić, Daria and Gršković, Branka and Ferenčak, Goran and Honović, Lorena and Stavljenić Rukavina, Ana (2008) Genotype frequencies of UDP-glucuronosyltransferase 1A1 promoter gene polymorphism in the population of healthy Croatian pre-scholars. Collegium Antropologicum, 32 (3). pp. 725-729. ISSN 0350-6134

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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.

Abstract in Croatian

Povišena koncentracija bilirubina u pacijenata s Gilbertovim sindromom (GS) uzrokovana je redukcijom aktivnosti jetrene bilirubin glukuronoziltransferaze na otprilike 30%. Polimorfizam gena za UGT1A1 s dokinutom ili jako smanjenom aktivnošću enzima UDP-glukuronoziltransferaze (B-UGT) je povezan s Gilbertovim sindromom te drugim vrstama hiperbilirubinemije. Genetska osnova GS je insercija dva dodatna TA nukleotida (što rezultira sedmerostrukim ponavljanjem TA) u TATA kutiji prisutnoj u proksimalnoj regiji promotora gena za UGT1A1. U ovoj studiji sudjelovalo je 323 hrvatske djece predškolske uzrasti uključujući 164 dječaka i 159 djevojčica. Statistička analiza pokazala je značajnu razliku u koncentraciji ukupnog bilirubina između genotipova (p<0.001). Nadalje, utvrđena je statistički značajna razlika u koncentraciji ukupnog bilirubina između genotipova 6/6 i 7/7 (p<0.001), kao i 6/7 i 7/7 (p<0.001). Povišene koncentracije ukupnog bilirubina u plazmi pokazale su značajnu povezanost sa genotipom 7/7 koji je bio prisutan u 9.8% populacije.

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