Abstract
Background: Gilbert syndrome (GS) is characterized by an elevated serum bil-irubin due to a polymorphism in Uridine Diphosphate Glucuronosyl Transferase (UGT1A1) gene. Several studies have found high prevalence of Gilbert Syn-drome in some Asian countries but still haven’t explored in Bangladesh. Aim of this study was to determine the allele frequencies of two different variants of UGT1A1 polymorphisms (UGT1A1 6 and UGT1A1 28) among Bangladeshi population. Materials and method: Total 150 unrelated volunteer from outpa-tient unit of the Central Hospital Limited, and Bangabandhu Sheikh Mujib Medical University, Dhaka were enrolled in this study. Peripheral blood was obtained from each subject and DNA extraction was done by Genomic DNA Isolation Kit. Polymorphisms of UGT1A1*6 (c.211G>A) was genotyped using the TaqMan Assay-on-Demand SNP Typing System and UGT1A1*28 (c.-53_-52TA) promoter repeat number polymorphism was determined by PCR method on an ABI PRISM 3130 Genetic Analyzer. Results: 57.3% of the study participants were male, mean age of them was 4.05 years. Minor allele fre-quency (MAF) was 0.442 (44.2%) for UGT1A1*28 and 0.047 (4.7%) for UGT1A1*6. Conclusion: This is the first ever study conducted among Bangla-deshi population to identify the Gilbert syndrome and found very high prevalence. Drugs those who are conjugated by UGT1A1 may lead to worse adverse event due to UGT1A1 polymorphism. Infants having decreased UGT1A1 enzyme activity develop neonatal jaundice and its further complication like Ker-nicterus. Higher incidence of Gilbert syndrome among Bangladeshi might be the alert for the clinicians treating neonatal jaundice.
Highlights
Gilbert syndrome (GS) is defined as a fluctuating or discrete elevation of unconjugated serum bilirubin where hemolysis, liver disease or other causes are excluded
In Gilbert syndrome, the mild jaundice occurs as a result of inherited unconjugated hyperbilirubinemia, the most common human metabolic disorders which is caused by polymorphisms in UDP-glucuronosyltransferase 1 (UGT1A1)
UGT1A1*28 & *6 in other ethnicity; *Li Minmin et al 2014, Agrawal SK et al 2009; Minor allele frequency (MAF) data of Caucasian was collected from NCBI dbSNP database. This is the first ever study where we evaluated the frequency of the main genetic determinant of Gilbert Syndrome (UGT1A1*28 and UGT1A1*6) among Bangladeshi population
Summary
Gilbert syndrome (GS) is defined as a fluctuating or discrete elevation of unconjugated serum bilirubin where hemolysis, liver disease or other causes are excluded. In Gilbert syndrome, the mild jaundice occurs as a result of inherited unconjugated hyperbilirubinemia, the most common human metabolic disorders which is caused by polymorphisms in UDP-glucuronosyltransferase 1 (UGT1A1). Variants of the UGT1A1 gene polymorphism results in the absence or reduction of UGT1A1 activity which may lead to unconjugated hyperbilirubinemia. Gilbert syndrome (GS) is characterized by an elevated serum bilirubin due to a polymorphism in Uridine Diphosphate Glucuronosyl Transferase (UGT1A1) gene. Conclusion: This is the first ever study conducted among Bangladeshi population to identify the Gilbert syndrome and found very high prevalence. Drugs those who are conjugated by UGT1A1 may lead to worse adverse event due to UGT1A1 polymorphism. Higher incidence of Gilbert syndrome among Bangladeshi might be the alert for the clinicians treating neonatal jaundice
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