Diagnostic Value Of UGT1A1 In Gilbert Syndrome

Objective: To investigate the clinical diagnostic standard of Gilbert syndrome and the association between the distribution of UGT1A1 variants in GS patients with serum total bilirubin levels.Methods: A retrospective study of the clinical data of 115 Gilbert syndrome patients and the statistical analysis was performed using SPSS statistical software version 25.0 using either nonparametric test,Chi-square,Fisher's exact probability method,T test depending on dataset.p < 0.05 indicated statistical significance.Results: 1.General data: This study examined 115 individuals with Gilbert syndrome,mean age 36.89 ± 12.77 yrs.Average serum total bilirubin(STB)level 44.01?mol/L±18.78?mol/L.And the healthy group consisted of 115 people,average age 52.67 ±12.67 yrs.Average STB level 11.88?mol/L±4.63?mol/L.2.Case classification: In the total 115 cases,67 individuals(58.3%)simplely with GS,37 cases of GS(32.2%)with chronic liver disease,5 cases diagonosed of GS with thalassemia,6 cases of GS with other diseases.3.UGT1A1 gene polymorphisms: single site mutations are common in a homozygous TA insertion(18.3%)?a heterozygous TA insertion(14.8%)?a heterozygous UGT1A1*6(14.8%).Multisite mutations,such as a heterozygous TA insertion with heterozygous UGT1A1*6(22.6%),a homozygous TA insertion with heterozygous UGT1A1*27(4.3%)were frequently seen in 115 GS patients.4.The serum total bilirubin level of each UGT1A1 genotypes among 110 GS patients without thalassemia decreased in the following order: UGT1A1*7/*7(66.45?mol/L)>UGT1A1*28 /*28(48.75?mol/L)>UGT1A1*1/*28+*1/*6+*1/*27(46.82?mol/L)>UGT1A1*28/*28+ *1/*27(44.68?mol/L)>UGT1A1*1/*6(43.15?mol/L)>UGT1A1*1/*28(43.02?mol/L)> UGT1A1*6/*6(37.1?mol/L)> UGT1A1*1/*28+*1/*6(36.84?mol/L).5.Association of the bilirubin level and UGT1A1 polymorphisms: We found that the frequence of UGT1A1*28 variant gradually gets higher with increased serum bilirubin levels(P=0.028<0.05),the distribution of UGT1A1*6 on the contray(P=0.021<0.05).6.Genotype characteristics in the GS and Chronic virus hepatitis with GS groups: There were no difference between GS(n=67)and Chronic virus hepatitis with GS groups(n=32)in UGT1A1 genotypes and STB levels(P >0.05).Conclusion: UGT1A1 gene detection worthy of widespread use in clinical in consideration of its safety and high accuracy to assist the diagnosis of GS,relieving the psychological burden of patients and saving limited medical resources.