title: The impact of the UGT1A1*60 allele on bilirubin serum concentrations.
abstract: OBJECTIVE
  Identify the functional status of the uridine-diphosphate glucuronyl transferase 1A1 (UGT1A1) -3279T>G (*60) variant.
  
  
  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.
  
  
  CONCLUSIONS
  The presence of the UGT1A1 -3279T>G (*60) variant is not associated with increased bilirubin concentrations.
authors.affiliation: Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: Amy L
authors.initials: AL
authors.lastname: Pasternak
authors.affiliation: Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: Kristine R
authors.initials: KR
authors.lastname: Crews
authors.affiliation: Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: Kelly E
authors.initials: KE
authors.lastname: Caudle
authors.affiliation: Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: Colton
authors.initials: C
authors.lastname: Smith
authors.affiliation: Department of Biostatistics, St. Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: Deqing
authors.initials: D
authors.lastname: Pei
authors.affiliation: Department of Biostatistics, St. Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: Cheng
authors.initials: C
authors.lastname: Cheng
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
authors.forename: Ulrich
authors.initials: U
authors.lastname: Broeckel
authors.affiliation: Department of Infectious Diseases, St. Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: Aditya H
authors.initials: AH
authors.lastname: Gaur
authors.affiliation: Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: Jane
authors.initials: J
authors.lastname: Hankins
authors.affiliation: Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: Mary V
authors.initials: MV
authors.lastname: Relling
authors.affiliation: Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: Cyrine E
authors.initials: CE
authors.lastname: Haidar
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001663:Bilirubin / Q000097:blood* / Q000235:genetics*; D044383:Black People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D014453:Glucuronosyltransferase / Q000235:genetics*; D006402:Hematologic Diseases / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D044465:White People / Q000235:genetics; D055815:Young Adult; D000099148:UGT1A1 Enzyme
chemical_list: D001663:Bilirubin; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme
keywords: *60; UGT1A1; pharmacogenomics