UDP-glucuronosyltransferase 1A1 Gene Polymorphism in Severe Neonatal Hyperbilirubinemia.
- Author:
Je Deok JEON
1
;
Heui Seung JO
;
Seong Gyu LEE
;
Sung Hwan BYUN
;
Joong Suk YEO
;
Yeon Hwa AHN
;
Soo Hee CHANG
;
Se Young KIM
;
Jong Woon CHOI
Author Information
1. Department of Pediatrics, Bundang Jesaeng General Hospital, Sungnam, Korea. jo@dmc.or.kr
- Publication Type:Original Article
- Keywords:
Uridinediphosphoglucuronate glucuronosyltransferase 1A1 (UGT-1A1) gene;
Promoter;
Mutation;
Neonatal jaundice
- MeSH:
Bilirubin;
Genotype;
Glucuronosyltransferase;
Heterozygote;
Homozygote;
Humans;
Hyperbilirubinemia;
Hyperbilirubinemia, Neonatal*;
Infant;
Infant, Newborn;
Jaundice;
Jaundice, Neonatal;
Prevalence;
Promoter Regions, Genetic;
Sequence Analysis, DNA;
TATA Box
- From:Journal of the Korean Society of Neonatology
2007;14(1):46-52
- CountryRepublic of Korea
- Language:Korean
-
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.
