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
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.
Pharmacogenomics. 2017 Jan;18(1):5-16. doi: 10.2217/pgs-2016-0135. Epub 2016 Dec 14.
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.
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.
The presence of the UGT1A1 -3279T>G (*60) variant is not associated with increased bilirubin concentrations.
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。
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。
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。
UGT1A1 -3279T>G（*60）变异体的存在与胆红素浓度升高无关。
