Uridine Diphosphate Glucuronosy ltransferase 1A1 Promoter Gene Polymorphism (211G>A) inneonatal Hyperbilirubinemiaat Zagazig University hospital

1Mohamed Mohamed Youssef, Lotfy Mohamed Elsayed, LailaRasslanAbd El Aziz, AmalFawzy Abdel-Mageed, Mohamed MohamedShehab

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Abstract:

Background:Neonatal jaundice is usually benign, but in some cases it can progress to severe hyperbilirubinemia, acute bilirubin encephalopathy (ABE) and kernicterus/chronic bilirubin encephalopathy (CBE). In Egypt, severe neonatal hyperbilirubinemia accounted for 33% of total admissions to (NICU). UGT1A1 is the key enzyme for bilirubin conjugation, and mutations of UGT1A1 cause unconjugated hyperbilirubinemia syndromes known as Crigler-Najjar syndrome and Gilbert’s syndrome. The aim was to study the relation of UGT1A1, 211 G to A promoter gene polymorphism with the risk of hyperbilirubinemia in neonates.Methods: The study included 50 neonates; case group consisting of 30 neonates with the peak of total serum bilirubin ≥ 16 mg /dl and control group consisting of 20 neonates with the peak total serum bilirubin) levels <12 mg/dl. UGT1A1 genes was determined. Results: This study results that UGT1A1 promoter gene polymorphism 211G>A genotype can be used as a novel method to detect susceptibility to indirecthyperbilirubinemia in neonates. Conclusion: Detection of 211G>A variant of UGT1A1 promoter polymorphism gene was comparable between neonatal hyperbilirubinemia and control group. Heterozygous (G/A) and homozygous (G/G, A/A) genotype variants of the promoter region in UGT1A1 polymorphism in healthy neonates and idiopathic hyperbilirubinemia should be considered.

Keywords:

Neonatal hyperbilirubinemia, UGT1A1 gene. 211G>A promoter polymorphism.

Paper Details
Month12
Year2020
Volume24
IssueIssue 10
Pages6388-6402