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The impact of the UGT1A1*60 allele on bilirubin serum concentrations. Pharmacogenomics 2017 Jan;18(1):5-16

Date

12/15/2016

Pubmed ID

27967321

DOI

10.2217/pgs-2016-0135

Scopus ID

2-s2.0-85007162462 (requires institutional sign-in at Scopus site)   5 Citations

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.

Author List

Pasternak AL, Crews KR, Caudle KE, Smith C, Pei D, Cheng C, Broeckel U, Gaur AH, Hankins J, Relling MV, Haidar CE

Author

Ulrich Broeckel MD Chief, Center Associate Director, Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Adolescent
Adult
Alleles
Bilirubin
Child
Child, Preschool
Female
Genetic Linkage
Glucuronosyltransferase
Hematologic Diseases
Humans
Infant
Infant, Newborn
Male
Middle Aged
Retrospective Studies
Young Adult