1956G>C Polymorphism of the UDP-glucuronosyltransferase Gene (UGT1A1) for Neonatal Hyperbilirubinemia in Koreans.
- Author:
Jun Ho LIM
1
;
Mi Yeoun KIM
;
Ji Sook KIM
;
Eun Ryoung KIM
;
Seo Hyun YOON
;
Hee Jae LEE
;
Joo Ho CHUNG
Author Information
1. Department of Pediatrics, Sung-Ae General Hospital, Seoul, Korea. eunicu@hotmail.com
- Publication Type:Original Article
- Keywords:
UDP-glucuronosyltransferase gene (UGT1A1);
Neonatal hyperbilirubinemia;
Polymorphism
- MeSH:
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
- From:Journal of the Korean Society of Neonatology
2005;12(2):158-164
- CountryRepublic of Korea
- Language:Korean
-
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.
