J Korean Soc Neonatol.  2005 Nov;12(2):158-164.

1956G>C Polymorphism of the UDP-glucuronosyltransferase Gene (UGT1A1) for Neonatal Hyperbilirubinemia in Koreans

• Lim JH
• Kim MY
• Kim JS
• Kim ER
• Yoon SH
• Lee HJ
• Chung JH

Abstract

PURPOSE
The incidence of neonatal hyperbilirubinemia is twice as high in Eastern Asians as in Caucasians. Although it has not been clearly defined, the UDP-glucuronosyltransferase gene (UGT1A1) mutation was found to be a risk factor of neonatal hyperbilirubinemia. This study is to find an association of 1956G>C polymorphism of the UGT1A1 gene, which encodes for a key enzyme of bilirubin metabolism and neonatal hyperbilirubinemia in Korean infants. METHODS: The genomic DNA was isolated from 80 Korean full term neonates whose serum bilirubin greater than 12 mg/dL with no obvious cause. The genomic DNA was also isolated from 164 Korean neonates of the control population. We studied a single nucleotide polymorphism (SNP) of 1956G>C 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 mutation and 10 of the neonates with a serum bilirubin level above 12 mg/dL had heterozygous mutation. Thirteen of the 164 neonates of the control group had homozygous mutation and 16 neonates of the control group had heterozygous mutation. The allele frequency of 1956G>C polymorphism of UGT1A1 in the hyperbilirubinemia group was 10.0 percent, which was not significantly different from the allelic frequency of 12.8 percent in the control group. CONCLUSIONS: In this study, the 1956G>C 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 Korean.

Keyword

UDP-glucuronosyltransferase gene (UGT1A1); Neonatal hyperbilirubinemia; Polymorphism

MeSH Terms

Asian Continental Ancestry Group
Bilirubin
DNA
Gene Frequency
Humans
Hyperbilirubinemia
Hyperbilirubinemia, Neonatal*
Incidence
Infant
Infant, Newborn
Metabolism
Polymorphism, Single Nucleotide
Prevalence
Risk Factors
Untranslated Regions
Bilirubin
DNA
Untranslated Regions