The impact of the UGT1A1*60 allele on bilirubin serum concentrations. (January 2017)

• Record Type: Journal Article
• Authors: Pasternak, Amy L; Crews, Kristine R; Caudle, Kelly E; Smith, Colton; Pei, Deqing; Cheng, Cheng; Broeckel, Ulrich; Gaur, Aditya H; Hankins, Jane; Relling, Mary V; Haidar, Cyrine E
• Is Part Of: Pharmacogenomics. Volume 18:Number 1(2017)
• Page Start: 5
• Page End: 16
• Publication Date: 2017-01
• Subjects: *60 -- pharmacogenomics -- UGT1A1; Pharmacogenomics -- Periodicals; 615.1
• DOI: 10.2217/pgs-2016-0135
• Languages: English
• ISSNs: 1462-2416

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.