- PMID
- Gene Name
- Molecular Event
- Function in UC
- 10968441
- UGT1A
- polymorphism
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- NA
- Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates. Lancet, 2000 Aug 19 [Go to PubMed]
- We asked whether UDP glucuronosyltransferase (UGT) gene promoter polymorphism (Gilbert's syndrome) would increase hyperbilirubinaemia in direct Coombs' negative ABO-incompatible neonates, as seen in other combinations with this condition. 40 ABO-incompatible and 344 ABO-compatible controls had an allele frequency of 0.35 for the variant promoter gene. The incidence of hyperbilirubinaemia was significantly higher only in the former who were also homozygotes for the variant UGT promoter, compared with ABO-incompatible babies homozygous for the normal UGT promoter (43% vs 0, p=0.02), and with ABO-compatible controls of all UGT genotypes combined (relative risk 5.65, 95% CI 2.23-14.31). Gilbert's syndrome is a determining factor for neonatal hyperbilirubinaemia ABO incompatibility.
- 9580766
- UGT1A
- polymorphism
- Diagnosis
- Method
- A(TA)7TAA Polymorphism
- Summary
- newborn infants with the molecular marker for GS have an accelerated increase in Neonatal jaundice during the first 2 days of life.
- Gilbert syndrome accelerates development of neonatal jaundice. The Journal of pediatrics, 1998 Apr [Go to PubMed]
- Gilbert Syndrome (GS), associated with unconjugated hyperbilirubinemia and decreased bilirubin UDP-glucuronosyltransferase activity, is usually diagnosed after puberty. The role of GS in neonatal jaundice is unknown. This study tested the hypothesis that a recently identified molecular marker for GS (a TA insertion in the promoter of UGT1A, the gene encoding bilirubin UDP-glucuronosyltransferase) is associated with neonatal jaundice.
Transcutaneous jaundice index was measured shortly after birth and daily for the first week of life in 151 healthy infants. Genomic DNA was isolated from blood or buccal brushings, and the UGT1A promoter was amplified by the polymerase chain reaction to yield 90 (A[TA]6TAA, normal) or 92 (A[TA]7TAA, GS) base pair products. Statistical analysis used Kruskal-Wallis, Wilcoxon, and Fisher's exact tests.
Nineteen (13%) subjects were homozygous for the A(TA)7TAA polymorphism associated with GS. The A(TA)7TAA homozygotes had a greater increase in jaundice index during the first 2 days of life than heterozygotes or A(TA)6TAA homozygotes.
Although peak jaundice levels did not differ among groups, newborn infants with the molecular marker for GS have an accelerated increase in neonatal jaundice during the first 2 days of life.
2 pubmed articles have reported UGT1A polymorphism associated with Neonatal Jaundice.