Korean Journal of Pediatrics 2005;48(4):380-386.
Published online April 15, 2005.
The Association of Neonatal Hyperbilirubinemia with UGT1A1 and CYP1A2 Gene Polymorphism in Korean Neonates
Hoon Kang1, Jun Ho Lim1, Ji Sook Kim1, Eun Ryoung Kim1, Sung Do Kim2, Hee Jae Lee3, Joo Ho Chung3
1Department of Pediatrics, Sung-Ae General Hospital, Seoul, Korea
2Department of Pediatrics, College of Medicine, Kyunghee University, Seoul, Korea
3Department of Pharmacology, College of Medicine, Kyunghee University, Seoul, Korea
한국인의 신생아 황달과 UGT1A1 및 CYP1A2 유전자 다형성과의 연관성
강훈1, 임준호1, 김지숙1, 김은영1, 김성도2, 이희제3, 정주호3
1성애병원 소아과
2경희대학교 의과대학 소아과학교실
3경희대학교 의과대학 약리학교실
Eun Ryoung Kim, Email: NICU@chollian.net
: 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.
: 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.
: 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).
: 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.
Key Words: UGT1A1 , CYP1A2 , Neonatal hyperbilirubinemia , Polymorphism

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