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Severe irinotecan-induced toxicity in a patient with UGT1A1 28 and UGT1A1 6 polymorphisms.患者存在 UGT1A1 28 和 UGT1A1 6 多态性，伊立替康所致重度毒性。
World J Gastroenterol. 2013 Jun 28;19(24):3899-903. doi: 10.3748/wjg.v19.i24.3899.
2
Polymorphisms of the UDP-glucuronosyl transferase 1A genes are associated with adverse events in cancer patients receiving irinotecan-based chemotherapy.UGT1A 基因的多态性与接受伊立替康为基础化疗的癌症患者的不良事件相关。
Tohoku J Exp Med. 2013 Feb;229(2):107-14. doi: 10.1620/tjem.229.107.
3
Improving the limit of detection for Sanger sequencing: a comparison of methodologies for KRAS variant detection.提高桑格测序的检测限：KRAS 变异检测方法的比较。
Biotechniques. 2012 Sep;53(3):182-8. doi: 10.2144/000113913.
4
Polymorphisms of UGT1A1*6, UGT1A1*27 & UGT1A1*28 in three major ethnic groups from Malaysia.马来西亚三个主要族群中的 UGT1A1*6、UGT1A1*27 和 UGT1A1*28 多态性。
Indian J Med Res. 2012 Aug;136(2):249-59.
5
Correlation between plasma concentration ratios of SN-38 glucuronide and SN-38 and neutropenia induction in patients with colorectal cancer and wild-type UGT1A1 gene.结直肠癌患者及野生型UGT1A1基因患者中SN-38葡萄糖醛酸苷与SN-38的血浆浓度比值与中性粒细胞减少诱导之间的相关性。
Oncol Lett. 2012 Mar;3(3):694-698. doi: 10.3892/ol.2011.533. Epub 2011 Dec 22.
6
Association of ABCC2 genotype with efficacy of first-line FOLFIRI in Japanese patients with advanced colorectal cancer.ABCC2 基因型与一线 FOLFIRI 方案治疗日本晚期结直肠癌患者疗效的相关性。
Drug Metab Pharmacokinet. 2012;27(3):325-35. doi: 10.2133/dmpk.dmpk-11-rg-128. Epub 2011 Dec 27.
7
Pharmacogenetic risk for adverse reactions to irinotecan in the major ethnic populations of Singapore: regulatory evaluation by the health sciences authority.新加坡主要种族人群中伊立替康不良反应的药物遗传学风险：健康科学局的监管评估。
Drug Saf. 2011 Dec 1;34(12):1167-75. doi: 10.2165/11594440-000000000-00000.
8
Concurrence of UGT1A polymorphism and end-stage renal disease leads to severe toxicities of irinotecan in a patient with metastatic colon cancer.UGT1A基因多态性与终末期肾病并存导致一名转移性结肠癌患者出现严重的伊立替康毒性反应。
Tumori. 2011 Mar-Apr;97(2):243-7. doi: 10.1177/030089161109700221.
9
Pharmacogenetics of irinotecan: An ethnicity-based prediction of irinotecan adverse events.伊立替康的药物遗传学：基于种族的伊立替康不良反应预测。
World J Gastrointest Surg. 2010 Jan 27;2(1):14-21. doi: 10.4240/wjgs.v2.i1.14.
10
Correlation between bilirubin glucuronidation and estradiol-3-gluronidation in the presence of model UDP-glucuronosyltransferase 1A1 substrates/inhibitors.在模型尿苷二磷酸葡萄糖醛酸基转移酶1A1底物/抑制剂存在的情况下胆红素葡萄糖醛酸化与雌二醇-3-葡萄糖醛酸化之间的相关性。
Drug Metab Dispos. 2011 Feb;39(2):322-9. doi: 10.1124/dmd.110.035030. Epub 2010 Oct 28.

开发焦磷酸测序法检测泰国结直肠癌中 UGT1A1 多态性。

Development of Pyrosequencing Method for Detection of UGT1A1 Polymorphisms in Thai Colorectal Cancers.

机构信息

Division of Pharmacogenomics and Personalized Medicine, Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Laboratory for Pharmacogenomics, Clinical Pathology, Somdetch Phra Debharatana Medical Centre, Ramathibodi Hospital, Bangkok, Thailand.

出版信息

J Clin Lab Anal. 2016 Jan;30(1):84-9. doi: 10.1002/jcla.21820. Epub 2014 Dec 26.

DOI:10.1002/jcla.21820
PMID:25545261
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6807135/
Abstract

BACKGROUND

UGT1A1 is a polymorphic enzyme that has been associated with irinotecan drug metabolisms. We developed a pyrosequencing method to detect allele frequency and genotype of UGT1A1 polymorphisms (UGT1A128 and UGT1A16) in Thai colorectal cancer patients.

METHOD

A pyrosequencing method was designed to determine UGT1A1 genetic polymorphisms including UGT1A128 (A[TA]7TAA) and UGT1A16 (211G>A) in 91 Thai colorectal cancers.

RESULT

Genotyping by the pyrosequencing technique was 100% concordant with capillary electrophoresis sequencing. The allele frequencies for UGT1A1 genetic polymorphisms were *1/*1 (54.95%), *1/*6 (13.19%), *1/*28 (25.27%), *28/*6 (4.40%), and *28/28 (2.20%). No homozygous mutation UGT1A16 was found in our population.

CONCLUSIONS

We developed a rapid, reliable, more cost-effective, and simple assay to detect UGT1A1 genetic polymorphisms in routine practice before initiating irinotecan therapy. The UGT1A128 and UGT1A16 alleles were found to be similar in the Asian populations.

摘要

背景

UGT1A1 是一种多态酶，与伊立替康药物代谢有关。我们开发了一种焦磷酸测序法来检测泰国结直肠癌患者 UGT1A1 多态性（UGT1A128 和 UGT1A16）的等位基因频率和基因型。

方法

设计了一种焦磷酸测序法来确定 UGT1A1 遗传多态性，包括 91 例泰国结直肠癌患者中的 UGT1A128（A[TA]7TAA）和 UGT1A16（211G>A）。

结果

焦磷酸测序技术的基因分型与毛细管电泳测序完全一致。UGT1A1 遗传多态性的等位基因频率为*1/*1（54.95%）、*1/*6（13.19%）、*1/*28（25.27%）、*28/6（4.40%）和28/28（2.20%）。我们的人群中未发现 UGT1A16 纯合突变。

结论

我们开发了一种快速、可靠、更具成本效益和简单的检测方法，用于在开始伊立替康治疗前在常规实践中检测 UGT1A1 遗传多态性。UGT1A128 和 UGT1A16 等位基因在亚洲人群中相似。