Clinical and genetic risk factors for moderate hyperbilirubinemia in Brazilian newborn infants

J Perinatol. 2010 Dec;30(12):819-26. doi: 10.1038/jp.2010.48. Epub 2010 Apr 8.

Abstract

Objective: To identify clinical and genetic risk factors for moderate hyperbilirubinemia during the first week of life.

Study design: Using univariate and multivariate multiple regression analyses, the RR for clinical factors, the African variant of glucose-6-phosphate dehydrogenase (G6PD) deficiency (G202A/A376G), and (TA)(n) UGT1A1 polymorphisms were established in a cohort of 608 Brazilian newborn infants. Hyperbilirubinemia was monitored until 134.5 ± 49.8 h of life (IQR, 111.0 to 156.7). The dependent variable was total bilirubinemia (TB) ≥12.9 mg per 100 ml estimated by transcutaneous or plasma bilirubin measurements.

Result: The African variant of G6PD deficiency and (TA)(7)/(TA)(7) and (TA)(7)/(TA)(8) polymorphisms present in 6.1 and 12.0% of newborns, respectively, were not risk factors for moderate hyperbilirubinemia. Coexpression of G6DP deficiency and UGT1A1 polymorphisms occurred in 0.49% of the subjects. Independent clinical predictors for TB≥ 12.9 mg per 100 ml were gestational age <38 weeks and reference curve percentiles >P40th.

Conclusion: In this study, G6PD deficiency and UGT1A1 gene promoter polymorphisms were not risk factors for moderate hyperbilirubinemia. Genetic factors may vary considerably in importance among different populations.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brazil
  • Cohort Studies
  • Cross-Cultural Comparison*
  • Female
  • Follow-Up Studies
  • Genetic Carrier Screening
  • Genotype
  • Glucosephosphate Dehydrogenase Deficiency / diagnosis
  • Glucosephosphate Dehydrogenase Deficiency / genetics
  • Glucuronosyltransferase / genetics
  • Humans
  • Hyperbilirubinemia, Neonatal / diagnosis*
  • Hyperbilirubinemia, Neonatal / genetics*
  • Infant, Newborn
  • Kernicterus / diagnosis
  • Kernicterus / genetics
  • Male
  • Neonatal Screening
  • Polymorphism, Genetic / genetics
  • Prospective Studies
  • Risk Factors

Substances

  • UGT1A1 enzyme
  • Glucuronosyltransferase