All issues > Volume 49(1); 2006

Original Article

Korean J Pediatr. 2006;49(1):34-39. Published online January 15, 2006.

1828G>A polymorphism of the UDP-glucuronosyltransferase gene (UGT1A1) for neonatal hyperbilirubinemia in Koreans

Ja Young JY Kim¹, Mi Yeoun MY Kim¹, Ji Sook JS Kim¹, Eun Ryoung ER Kim¹, Seo Hyun SH Yoon², Hee Jae HJ Lee³, Joo Ho JH Chung²

¹Department of Pediatrics, Sung-Ae General Hospital, Seoul
²Department of Pharmacology, College of Medicine, Kyunghee University, Seoul
³Department of Pharmacology, College of Medicine, Kangwon National University, Chuncheon, Korea

Correspondence Eun Ryoung ER Kim ,Email: eunicu@hotmail.com

Abstract

Purpose
: The incidence of neonatal hyperbilirubinemia is twice as high in East Asians as in Caucasians. However, its metabolic basis has not been clearly explained. The UDP-glucuronosyltransferase gene(UGT1A1) mutation was found to be a risk factor of neonatal hyperbilirubinemia. We studied whether neonatal hyperbilirubinemia is associated with the 1828G>A(rs 10929303) polymorphism of the UGT1A1 gene, which encodes for a key enzyme of bilirubin metabolism.
Methods
: The genomic DNA was isolated from 80 Korean full term neonates who had greater than a 12 mg/dL level of serum bilirubin with no obvious cause, and the genomic DNA was also isolated from 164 Korean neonates of the control population. We studied a single nucleotide polymorphism (SNP) of 1828G>A in the untranslated region of the UGT1A1 gene by direct sequencing.
Results
: Three of the 80 neonates with a serum bilirubin level above 12 mg/dL had homozygous mutations and 10 of the 80 neonates with a serum bilirubin level above 12 mg/dL had heterozygous mutations. Thirteen of the 164 neonates of the control group had homozygous mutations and 16 neonates of the control group had heterozygous mutations. The allele frequency of 1828G>A polymorphism of UGT1A1 in the hyperbilirubinemia group was 10.0 percent, which was not significantly different from the allele frequency of 12.8 percent in the control group.
Conclusion
: In this study, the 1828G>A polymorphism of the UGT1A1 gene was detected in the Korean neonates with neonatal hyperbilirubinemia. Our results indicated that this SNP is not associated with the prevalence of hyperbilirubinemia in Koreans.

Keywords :UDP-glucuronosyltransferase gene(UGT1A1) , Neonatal hyperbilirubinemia , Polymorphism