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

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

Author information

1
Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA.
2
Department of Biostatistics, St. Jude Children's Research Hospital, Memphis, TN, USA.
3
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
4
Department of Infectious Diseases, St. Jude Children's Research Hospital, Memphis, TN, USA.
5
Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN, USA.

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

PMID:
27967321
DOI:
10.2217/pgs-2016-0135
[Indexed for MEDLINE]

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