The Association of Neonatal Hyperbilirubinemia with UGT1A1 and CYP1A2 Gene Polymorphism in Korean Neonates.
- Author:
Hoon KANG
1
;
Jun Ho LIM
;
Ji Sook KIM
;
Eun Ryoung KIM
;
Sung Do KIM
;
Hee Jae LEE
;
Joo Ho CHUNG
Author Information
1. Department of Pediatrics, Sung-Ae General Hospital, Korea. NICU@chollian.net
- Publication Type:Original Article
- Keywords:
UGT1A1;
CYP1A2;
Neonatal hyperbilirubinemia;
Polymorphism
- MeSH:
Asian Continental Ancestry Group;
Bilirubin;
Cytochrome P-450 CYP1A1;
Cytochrome P-450 CYP1A2*;
Gene Frequency;
Humans;
Hyperbilirubinemia;
Hyperbilirubinemia, Neonatal*;
Incidence;
Infant, Newborn*;
Jaundice;
Rats, Gunn;
Risk Factors
- From:Korean Journal of Pediatrics
2005;48(4):380-386
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
PURPOSE: The incidence of nonphysiologic neonatal hyperbilirubinemia is twice as high in East Asians as in whites. Recently, UGT1A1 mutation was found to be a risk factor for neonatal hyperbilirubinemia. In congenitally-jaundiced Gunn rats, which lack expression of UDP-glucuronosyltransferase, alternative pathways can be stimulated by inducers of CYP1A1 and CYP1A2 enzymes. CYP1A2 plays a major role in bilirubin degradation of the alternate pathway. We studied the relationship between UGT1A1 and CYP1A2 gene polymorphism of neonatal hyperbilirubinemia in Koreans. METHODS: Seventy-nine Korean full term neonates who had hyperbilirubinemia(serum bilirubin >12 mg/dL) without obvious causes of jaundice, were analyzed for UGT1A1 and CYP1A2 gene polymorphism; the control group was sixty-eight. We detected the polymorphism of Gly71Arg of UGT1A1 gene by direct sequencing and T2698G of CYP1A2 by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) using MboII and direct sequencing. RESULTS: Allele frequency of Gly71Arg mutation in the hyperbilirubinemia group was 32 percent, which was significantly higher than 11 percent in the control group(P<0.0001). Mutant gene frequency of T2698G was 41.8 percent in patients and 32.3 percent in the control group(P=0.015), but allele frequency was 21 percent in patients and 19 percent in the control group, which was not significantly higher(P=0.706). There was no relationship between mutations of two genes(P=0.635). CONCLUSION: The polymorphism of UGT1A1 gene(Gly71Arg) and CYP1A2 gene(T2698G) was detected in Korean neonatal hyperbilirubinemia. Only polymorphisms of Gly71Arg in UGT1A1 were significantly higher than control group.
