engleski

Association of UDP Glucuronosyl Transferase Genetic Polymorphism with Gilbert Syndrome among Croatian Children

Our aim was to determine UDP glucuronosyl transferase (UGT1A1) mutant (TA)7 and wild type (TA)6 alleles distribution and compare it to total serum bilirubin (TSB) concentrations among 95 healthy controls and 117 subjects clinically diagnosed as Gilbert syndrome (GS) (both groups mean age - 14 years). For every subject we measured TSB (umol/l). Genotype distribution determined by PCR was as follows: among controls were 44% 6/6 (TSB 8.48 ; SD 2.77), 40% 6/7 (TSB 10.15 ; SD 4.62) and 16% 7/7 (TSB 22.22 ; SD 9.74) ; in GS group we found 21.4% of 6/6 (TSB 7.68 ; SD 4.24), 22% of 6/7 (TSB 15.44 ; SD 8.42), and 56% of genotype 7/7 (TSB 37.01 ; SD 21.15) respectively. Allelic frequencies for 6 and 7 alleles among controls were 64% and 36% and for GS group 33% and 68% respectively. We found no significant difference for genotype, allelic frequencies and TSB between males and females within groups. Genotype and allelic frequencies between GS and controls differed significantly: CHI(p)<0.001. TSB values for different genotypes among controls revealed significant difference: ANOVA(p)=0.001-0.050. Within GS group, TSB difference between three genotypes was also highly significant (ANOVA(p) <0.001). Our results confirmed UGT1A1 7/7 genotype association with GS and elevated TSB values.

UDP glucuronosyl transferase ; Gilbert syndrome ; children

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