UGT1A1*60等位基因对血清胆红素浓度的影响。

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

作者信息

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

机构信息

Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA.

Department of Biostatistics, St. Jude Children's Research Hospital, Memphis, TN, USA.

出版信息

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

DOI:10.2217/pgs-2016-0135

PMID:27967321

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.

摘要

目的

确定尿苷二磷酸葡萄糖醛酸基转移酶1A1（UGT1A1）-3279T>G（*60）变异体的功能状态。

材料与方法

回顾性分析儿科患者临床获得的血清胆红素浓度，以评估UGT1A1 -3279T>G（*60）变异体与胆红素浓度的相关性，并评估UGT1A1 -3279T>G（*60）和A(TA)7TAA（*28）变异体的连锁不平衡。

结果

UGT1A1*1/*1双倍型患者与UGT1A1 -3279T>G（*60/*60）变异体纯合子患者的总胆红素浓度无差异。UGT1A1 -3279T>G（*60/*60）变异体纯合子患者的总胆红素浓度低于UGT1A1 A(TA)7TAA（*28/*28）变异体纯合子患者（p < 0.01）。在黑人和白人患者中，-3279T>G（*60）和A(TA)7TAA（*28）变异体均处于强不完全连锁不平衡状态。