The Association of Neonatal Hyperbilirubinemia with UGT1A1 and CYP1A2 Gene Polymorphism in Korean Neonates / 소아과
Korean Journal of Pediatrics
;
: 380-386, 2005.
Artigo
em Coreano
| WPRIM
| ID: wpr-148997
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Ratos Gunn
/
Bilirrubina
/
Incidência
/
Fatores de Risco
/
Citocromo P-450 CYP1A1
/
Citocromo P-450 CYP1A2
/
Povo Asiático
/
Hiperbilirrubinemia Neonatal
/
Frequência do Gene
/
Hiperbilirrubinemia
Tipo de estudo:
Estudo de etiologia
/
Estudo de incidência
/
Estudo prognóstico
/
Fatores de risco
Limite:
Humanos
/
Recém-Nascido
Idioma:
Coreano
Revista:
Korean Journal of Pediatrics
Ano de publicação:
2005
Tipo de documento:
Artigo
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