The relationship between hyperbilirubinemia and the promoter region and first exon of UGT1A1 gene polymorphisms in Vietnamese newborns

• Published in: Pediatric research 2020-12, Vol.88 (6), p.940-944
• Main Authors: Nguyen, Tien-Thanh, Zhao, Wei, Yang, Xi, Zhong, Dan-Ni
• Format: Article
• Language: English
• Subjects: Medicine; Medicine & Public Health; Mutation; Pediatric Surgery; Pediatrics; Polymorphism; Population Study Article
• ISSN: 0031-3998; 1530-0447
• DOI: 10.1038/s41390-020-0825-6

Background To investigate the relationship between unexplained indirect hyperbilirubinemia of Vietnamese newborns and the polymorphism of the promoter TATA box and exon 1 of bilirubin uridine diphosphate glucuronosyltransferase (UGT1A1) gene. Methods A total of 149 neonates were divided into the hyperbilirubinemia group ( n  = 99) and control group ( n  = 50). The gene polymorphisms of UGT1A1 gene in the two groups were detected by PCR and direct sequencing, which revealed the relationship between UGT1A1 polymorphism with neonatal hyperbilirubinemia of neonates. The types of UGT1A1 polymorphism in the hyperbilirubinemia group and the peak total serum bilirubin (PSB) levels with different genotypes were observed. Results (1) (TA)7 insertion mutation, 211G>A, 189C>T, 190G>A, 378C>T and 686C>A were detected. (2) The allele frequency of 211G>A allele mutation was significantly different between the two groups ( p  A were both significantly associated with neonatal hyperbilirubinemia. (4) In the hyperbilirubinemia group, the peak total serum bilirubin level of 211G>A homozygous neonates was higher than that of the wild-type neonates ( p  A. In addition, the homozygous 211G>A polymorphism was related to the degree of hyperbilirubinemia. Impact Our article provided data on UGT1A1 polymorphism distribution in the Vietnamese population, which have not been reported yet. Our findings revealed that mutations in UGT1A1 gene are risk factors for unexplained hyperbilirubinemia in Vietnamese neonates. Our article will strengthen the cognition of neonatal jaundice at the genetic level in the pediatric field in Vietnam.