The impact of the UGT1A1*60 allele on bilirubin serum concentrations

Pharmacogenomics. 2017 Jan;18(1):5-16. doi: 10.2217/pgs-2016-0135. Epub 2016 Dec 14.

Abstract

Aim: Identify the functional status of the uridine-diphosphate glucuronyl transferase 1A1 (UGT1A1) -3279T>G (*60) variant.

Materials & methods: Retrospective review of clinically obtained serum bilirubin concentrations in pediatric patients to evaluate the association of the UGT1A1 -3279T>G (*60) variant with bilirubin concentrations and assessed linkage disequilibrium of the UGT1A1 -3279T>G (*60) and A(TA)7TAA (*28) variants.

Results: Total bilirubin concentration did not differ between patients who had a UGT1A1*1/*1 diplotype and patients homozygous for the UGT1A1 -3279T>G (*60/*60) variant. Total bilirubin concentration was lower in patients homozygous for the UGT1A1 -3279T>G (*60/*60) variant than in patients homozygous for the UGT1A1 A(TA)7TAA (*28/*28) variant (p < 0.01). The -3279T>G (*60) and A(TA)7TAA (*28) variants were in strong incomplete linkage disequilibrium in both black and white patients.

Conclusion: The presence of the UGT1A1 -3279T>G (*60) variant is not associated with increased bilirubin concentrations.

Keywords: *60; UGT1A1; pharmacogenomics.

MeSH terms

  • Adolescent
  • Adult
  • African Continental Ancestry Group / genetics
  • Alleles*
  • Bilirubin / blood*
  • Bilirubin / genetics*
  • Child
  • Child, Preschool
  • European Continental Ancestry Group / genetics
  • Female
  • Genetic Linkage / genetics
  • Glucuronosyltransferase / genetics*
  • Hematologic Diseases / blood
  • Hematologic Diseases / diagnosis
  • Hematologic Diseases / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Retrospective Studies
  • Young Adult

Substances

  • UGT1A1 enzyme
  • Glucuronosyltransferase
  • Bilirubin