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UGT1A1 sequence variants and bilirubin levels in early postnatal life: a quantitative approach

DOI: 10.1186/1471-2350-12-57

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Abstract:

We sequenced the exons, PBREM, 5'-, and 3'- regions of the UGT1A1 gene in 80 otherwise healthy term neonates who had repeat bilirubin levels measured within the first five days of life.Three novel coding variants were observed, but there was no clear relationship between rare coding variants and bilirubin rise. Adjusted linear regression models fit to evaluate the relationship between changing bilirubin levels and common UGT1A1variants found that among 39 neonates whose bilirubin was resampled within 33 hours, individuals homozygous for the mutant allele of a 3'UTR SNP had significantly smaller changes in bilirubin (P = 0.003) than individuals carrying the wild-type allele.Collectively, rare UGT1A1 coding variants do not appear to play a prominent role in determining early bilirubin levels; however common variants in the 3' UTR of UGT1A1 may modulate the early bilirubin rise. A quantitative approach to evaluating early bilirubin kinetics provides a more robust framework in which to better understand the genetics of neonatal hyperbilirubinemia.Neonatal hyperbilirubinemia affects 60% of full-term newborns and remains a significant cause of hospital re-admission in the first week of life [1,2]. With most newborns being discharged from hospital at 48 hours of life - a time when serum unconjugated bilirubin levels are still rising - the American Academy of Pediatrics has placed more emphasis on identifying infants at increased risk of developing significant hyperbilirubinemia [3]. These infants require closer follow-up to stave off the potentially devastating neurological effects of bilirubin encephalopathy.In practice, an otherwise healthy term newborn's risk for developing severe 'physiological' hyperbilirubinemia is largely a function of their bilirubin level at discharge. Bilirubin, when plotted on an hour-specific nomogram, often directs the need for future evaluation [4-6]. Among those identified as being at high or high-intermediate risk at discharge, however, onl

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