The Association of Neonatal Hyperbilirubinemia with UGT1A1 and CYP1A2 Gene Polymorphism in Korean Neonates / 소아과
Korean Journal of Pediatrics
;
: 380-386, 2005.
Article
Dans Coréen
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Rat Gunn
/
Bilirubine
/
Incidence
/
Facteurs de risque
/
Cytochrome P-450 CYP1A1
/
Cytochrome P-450 CYP1A2
/
Asiatiques
/
Hyperbilirubinémie néonatale
/
Fréquence d'allèle
/
Hyperbilirubinémie
Type d'étude:
Etude d'étiologie
/
Etude d'incidence
/
Étude pronostique
/
Facteurs de risque
Limites du sujet:
Humains
/
Nouveau-né
langue:
Coréen
Texte intégral:
Korean Journal of Pediatrics
Année:
2005
Type:
Article
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