| 1828G>A polymorphism of the UDP-glucuronosyltransferase gene (UGT1A1) for neonatal hyperbilirubinemia in Koreans |
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Ja Young Kim1, Mi Yeoun Kim1, Ji Sook Kim1, Eun Ryoung Kim1, Seo Hyun Yoon2, Hee Jae Lee3, Joo Ho 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 |
| 한국인 신생아 황달에서 UGT1A1 유전자의 1828G>A 단일염기다형성에 관한 연구 |
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김자영1, 김미연1, 김지숙1, 김은령1, 윤서현2, 이희제3, 정주호2 |
1성애병원 소아과
2경희대학교 의과대학 약리학교실
3강원대학교 의과대학 약리학교실 |
Correspondence:
Eun Ryoung Kim, Email: eunicu@hotmail.com
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| 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. |
| Key Words:
UDP-glucuronosyltransferase gene(UGT1A1) , Neonatal hyperbilirubinemia , Polymorphism |
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