Analysis of diagnostic value of UGT1A1 gene detection in Gilbert syndrome
10.3760/cma.j.cn501113-20190409-00114
- VernacularTitle:UGT1A1基因检测在Gilbert综合征中的诊断价值分析
- Author:
Meng ZHANG
1
;
Weina LI
;
Guang CHEN
;
Xin XU
;
Junying QI
Author Information
1. 华中科技大学同济医学院附属同济医院感染科，武汉 430030
- Keywords:
Gilbert syndrome;
UGT1A1;
Hyperbilirubinemia
- From:
Chinese Journal of Hepatology
2021;29(2):143-149
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the diagnosis method of Gilbert syndrome (GS) and the relationship between UGT1A1 gene polymorphism distribution with serum bilirubin.Methods:Clinical data of 115 GS cases diagnosed in our hospital from January 2013 to November 2018 were retrospectively analyzed. Chi-square test, Fisher’s exact probability method, t-test, and non-parametric test were used for data analysis.Results:115 cases with GS had an average age of (36.89 ± 12.77) years and an average serum total bilirubin level of (44.01 ± 18.78) μmol/L.UGT1A1*28/*28 (21, 18.3%), UGT1A1*1/*28 (17, 14.8%), and UGT1A1*1/*6 (17, 14.8%) were the most common single-site mutations. UGT1A1*1/*28 + *1/*6 (26, 22.6%), UGT1A1*28/*28 + *1/*27 (5, 4.3%) and UGT1A1*1/*28 + *1/*6 + *1/* 27 (5, 4.3%) were the most common multiple-site mutations. Among 110 cases with Gilbert syndrome combined with non-hemolytic diseases, pairwise comparisons showed that the total bilirubin levels of patients with UGT1A1*28/*28 mutations were significantly higher than UGT1A1*6/*6 and UGT1A1*1/*28 + *1/*6 mutation ( P < 0.05). Additionally, with the increase of UGT1A1*28 distribution, the serum total bilirubin level had gradually increased ( P = 0.028), but UGT1A1*6 was opposite ( P = 0.021). There were no significant differences in gene distribution and bilirubin level between GS group (67 cases) and GS combined with viral hepatitis group (32 cases) ( P > 0.05). Conclusion:UGT1A1 gene sequencing detection is a simple, safe, specific and sensitive effective method to assist GS diagnosis. It can reduce the misdiagnosis and mistreatment of clinical jaundice, thus reducing the patients’ psychological burden and saving the limited medical resources. It is worthy of clinical application.
