KMID : 0438520070140010046
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Journal of the Korean Society of Neonatology 2007 Volume.14 No. 1 p.46 ~ p.52
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UDP-glucuronosyltransferase 1A1 Gene Polymorphism in Severe Neonatal Hyperviliruvinemia
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Jeon Je-Deok
Lee Seong-Kyu Byun Sung-Hwan Choi Jong-Woon Kim Se-Young Chang Soo-Hee Jo Heui-Seung Yeo Joong-Suk Ahn Yeon-Hwa
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Abstract
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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¡¾1.0 mg/dL vs. 19.7¡¾2.4 mg/dL, P=0.004, 5.0¡¾1.5 days vs. 8.3¡¾4.1 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. (J Korean Soc Neonatol 2007;14:46-52)
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KEYWORD
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Uridinediphosphoglucuronate glucuronosyltransferase 1A1(UGT-1A1) gene, Promoter, Mutation, Neonatal jaundice
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