J Korean Soc Neonatol.  2007 May;14(1):46-52.

UDP-glucuronosyltransferase 1A1 Gene Polymorphism in Severe Neonatal Hyperbilirubinemia

Affiliations
  • 1Department of Pediatrics, Bundang Jesaeng General Hospital, Sungnam, Korea. jo@dmc.or.kr
  • 2Department of Laboratory Medicine, Bundang Jesaeng General Hospital, Sungnam, Korea.

Abstract

PURPOSE: TATA box mutation/polymorphism in the promoter region of the bilirubin uridinediphosphoglucuronate glucuronosyltransferase 1A1 (UGT-1A1) gene is known to be an etiology of hyperbilirubinemia. This study examined if a TATA box mutation/polymorphism in UGT-1A1 gene promoter could be associated with the development of severe early neonatal jaundice in Korean infants.
METHODS
Thirty-nine neonatal jaundice patients and 40 controlled infants were analyzed for UGT-1A1 promoter genotypes by using DNA sequencing.
RESULTS
The homozygote for (TA)7TAA mutation was not found in this study. Comparison of the prevalence of UGT-1A1 promoter (TA)7TAA heterozygotes revealed no difference between the group with jaundice and the controlled group (15.4% vs. 10%). The peak bilirubin level was higher and the onset of jaundice was earlier in the jaundice group with (TA)7TAA heterozygote compared to the jaundice group without (TA)7TAA heterozygote (23.2+/-1.0 mg/dL vs. 19.7+/-2.4 mg/dL, P=0.004, 5.0+/-1.5 days vs. 8.3+/-4.1 days, P= 0.057).
CONCLUSION
The results of this study showed that TATA box polymorphism in UGT-1A1 gene promoter did not increase the prevalence of severe early neonatal jaundice in Korean infants.

Keyword

Uridinediphosphoglucuronate glucuronosyltransferase 1A1 (UGT-1A1) gene; Promoter; Mutation; Neonatal jaundice

MeSH Terms

Bilirubin
Genotype
Glucuronosyltransferase
Heterozygote
Homozygote
Humans
Hyperbilirubinemia
Hyperbilirubinemia, Neonatal*
Infant
Infant, Newborn
Jaundice
Jaundice, Neonatal
Prevalence
Promoter Regions, Genetic
Sequence Analysis, DNA
TATA Box
Bilirubin
Glucuronosyltransferase
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