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.
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。
相似文献
1
Development of Pyrosequencing Method for Detection of UGT1A1 Polymorphisms in Thai Colorectal Cancers.开发焦磷酸测序法检测泰国结直肠癌中 UGT1A1 多态性。
J Clin Lab Anal. 2016 Jan;30(1):84-9. doi: 10.1002/jcla.21820. Epub 2014 Dec 26.
2
Correlation of UGT1A1(*)28 and (*)6 polymorphisms with irinotecan-induced neutropenia in Thai colorectal cancer patients.泰国结直肠癌患者中UGT1A1（*）28和（*）6基因多态性与伊立替康诱导的中性粒细胞减少的相关性
Drug Metab Pharmacokinet. 2016 Feb;31(1):90-94. doi: 10.1016/j.dmpk.2015.12.004. Epub 2015 Dec 31.
3
A study of the association between UGT1A1*28 variant allele of UGT1A1 gene and colonic phenotype of sporadic colorectal cancer.研究 UGT1A1 基因 UGT1A1*28 变异等位基因与散发性结直肠癌结肠表型的关系。
Dig Liver Dis. 2019 Apr;51(4):579-583. doi: 10.1016/j.dld.2018.11.032. Epub 2018 Dec 10.
4
Effect of drug metabolizing enzymes and transporters in Thai colorectal cancer patients treated with irinotecan-based chemotherapy.伊立替康为基础化疗的泰国结直肠癌患者中药物代谢酶和转运体的作用。
Sci Rep. 2020 Aug 10;10(1):13486. doi: 10.1038/s41598-020-70351-0.
5
Promoter length polymorphism in UGT1A1 and the risk of sporadic colorectal cancer.UGT1A1基因启动子长度多态性与散发性结直肠癌风险
Cancer Genet. 2012 Apr;205(4):163-7. doi: 10.1016/j.cancergen.2012.01.015.
6
Rapid and sensitive detection of UGT1A1 polymorphisms associated with irinotecan toxicity by a novel DNA microarray.通过新型DNA微阵列快速灵敏检测与伊立替康毒性相关的UGT1A1基因多态性
Cancer Sci. 2017 Jul;108(7):1504-1509. doi: 10.1111/cas.13272. Epub 2017 Jun 5.
7
UGT1A1 polymorphism can predict hematologic toxicity in patients treated with irinotecan.UGT1A1基因多态性可预测接受伊立替康治疗患者的血液学毒性。
Clin Cancer Res. 2007 Jun 1;13(11):3269-75. doi: 10.1158/1078-0432.CCR-06-2290. Epub 2007 May 17.
8
Single-step identification of all length polymorphisms in the UGT1A1 gene promoter.一步法鉴定UGT1A1基因启动子中的所有长度多态性。
Int J Clin Pharmacol Ther. 2004 Mar;42(3):133-8. doi: 10.5414/cpp42133.
9
UGT1A polymorphisms associated with worse outcome in colorectal cancer patients treated with irinotecan-based chemotherapy.UGT1A 多态性与接受伊立替康为基础化疗的结直肠癌患者的不良预后相关。
Cancer Chemother Pharmacol. 2018 Jul;82(1):87-98. doi: 10.1007/s00280-018-3595-7. Epub 2018 May 4.
10
Relevance of different UGT1A1 polymorphisms in irinotecan-induced toxicity: a molecular and clinical study of 75 patients.不同UGT1A1基因多态性与伊立替康所致毒性的相关性：75例患者的分子与临床研究
Clin Cancer Res. 2004 Aug 1;10(15):5151-9. doi: 10.1158/1078-0432.CCR-03-0548.
引用本文的文献
1
A comprehensive Thai pharmacogenomics database (TPGxD-1): Phenotype prediction and variants identification in 942 whole-genome sequencing data.一个全面的泰国药物基因组学数据库（TPGxD-1）：在 942 个全基因组测序数据中的表型预测和变异识别。
Clin Transl Sci. 2024 Jun;17(6):e13830. doi: 10.1111/cts.13830.
2
Rapid detection of the irinotecan-related UGT1A1*28 polymorphism by asymmetric PCR melting curve analysis using one fluorescent probe.采用单荧光探针不对称 PCR 熔解曲线分析法快速检测伊立替康相关的 UGT1A1*28 多态性。
J Clin Lab Anal. 2022 Aug;36(8):e24578. doi: 10.1002/jcla.24578. Epub 2022 Jun 29.
3
Association study identifies genetic determinants and non-genetic factors on steady-state plasma and therapeutic outcome of galantamine in mixed dementia.关联研究确定了混合性痴呆患者加兰他敏稳态血浆浓度和治疗效果的遗传决定因素和非遗传因素。
Eur J Clin Pharmacol. 2022 Aug;78(8):1249-1259. doi: 10.1007/s00228-022-03322-1. Epub 2022 May 28.
4
Associations between UGT1A1 and SLCO1B1 polymorphisms and susceptibility to neonatal hyperbilirubinemia in Thai population.UGT1A1 和 SLCO1B1 多态性与泰国人群新生儿高胆红素血症易感性的关联。
BMC Pediatr. 2022 May 2;22(1):243. doi: 10.1186/s12887-022-03311-4.
5
Pharmacogenetics and Precision Medicine Approaches for the Improvement of COVID-19 Therapies.用于改善新冠病毒疾病治疗的药物遗传学和精准医学方法。
Front Pharmacol. 2022 Feb 18;13:835136. doi: 10.3389/fphar.2022.835136. eCollection 2022.
6
The reference liver-CYP450 and UGT enzymes in healthy donor and metastatic livers: the impact of genotype.健康供肝和转移性肝中 CYP450 和 UGT 酶的参考值：基因型的影响。
Pharmacol Rep. 2022 Feb;74(1):204-215. doi: 10.1007/s43440-021-00337-w. Epub 2021 Nov 6.
7
Pharmacogenetic Associations Between Atazanavir/ and Efavirenz/rs3745274 () Account for Specific Adverse Reactions in Chilean Patients Undergoing Antiretroviral Therapy.阿扎那韦与依非韦伦/rs3745274之间的药物遗传学关联解释了智利接受抗逆转录病毒治疗患者的特定不良反应。
Front Pharmacol. 2021 May 19;12:660965. doi: 10.3389/fphar.2021.660965. eCollection 2021.
8
Effect of drug metabolizing enzymes and transporters in Thai colorectal cancer patients treated with irinotecan-based chemotherapy.伊立替康为基础化疗的泰国结直肠癌患者中药物代谢酶和转运体的作用。
Sci Rep. 2020 Aug 10;10(1):13486. doi: 10.1038/s41598-020-70351-0.
9
Comparison of Eight Technologies to Determine Genotype at the UGT1A1 (TA) Repeat Polymorphism: Potential Clinical Consequences of Genotyping Errors?比较八种技术以确定 UGT1A1（TA）重复多态性的基因型：基因分型错误的潜在临床后果？
Int J Mol Sci. 2020 Jan 30;21(3):896. doi: 10.3390/ijms21030896.
10
"Gilbert's-like" syndrome as part of a spectrum of persistent unconjugated hyperbilirubinemia in post-chronic hepatitis patients."Gilbert's-like" 综合征作为慢性肝炎后持续性非结合胆红素血症谱的一部分。
Sci Rep. 2018 Jan 31;8(1):2008. doi: 10.1038/s41598-018-19847-4.
本文引用的文献
1
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.
Zotero 插件