UGT1A1 多态性在日本存在多样性吗？
Is there diversity among UGT1A1 polymorphism in Japan?
机构信息
Michiya Kobayashi, Ken Okamoto, Hiromichi Maeda, Department of Human Health and Medical Sciences, Kochi Medical School, Nankoku 783-8505, Japan.
出版信息
World J Gastrointest Oncol. 2012 Jul 15;4(7):170-5. doi: 10.4251/wjgo.v4.i7.170.
Abstract
AIM
To investigate into the diversity of UGT1A1 polymorphism across three different districts in Japan and highlight genetic differences among the population in Japan.
METHODS
We enrolled 50 healthy volunteers from each of the Yamaguchi (western part of Japan), Kochi (southern part of Japan) and Akita (northern part of Japan) prefectures. Blood samples (7 mL) were collected from each participant and stored in EDTA for subsequent genotyping by fragment size analysis, direct sequencing and TaqMan assay of UGT1A128, UGT1A73/UGT1A922 and UGT1A193/UGT1A16/UGT1A127/UGT1A1*60/UGT1A7 (-57), respectively.
RESULTS
The only statistically significant differences in allele polymorphisms among the group examined were for UGT1A16. The Akita population showed more UGT1A16 heterozygosity (P = 0.0496).
CONCLUSION
Our study revealed no regional diversity among UGT1A1, UGT1A7 or UGT1A9 polymorphisms in Japan.
摘要
目的
研究日本三个不同地区 UGT1A1 多态性的多样性，并强调日本人群之间的遗传差异。
方法
我们从日本山口县（日本西部）、高知县（日本南部）和秋田县（日本北部）各招募了 50 名健康志愿者。从每位参与者采集 7mL 血液样本，并储存在 EDTA 中，用于随后通过片段大小分析、直接测序和 TaqMan 分析对 UGT1A128、UGT1A73/UGT1A922 和 UGT1A193/UGT1A16/UGT1A127/UGT1A1*60/UGT1A7（-57）进行基因分型。
结果
在所检查的群体中，等位基因多态性方面唯一具有统计学显著差异的是 UGT1A16。秋田人群的 UGT1A16 杂合性更高（P=0.0496）。
结论
我们的研究表明，日本人群中 UGT1A1、UGT1A7 或 UGT1A9 多态性没有地域差异。
相似文献
1
Is there diversity among UGT1A1 polymorphism in Japan?UGT1A1 多态性在日本存在多样性吗？
World J Gastrointest Oncol. 2012 Jul 15;4(7):170-5. doi: 10.4251/wjgo.v4.i7.170.
2
Differences in UGT1A1, UGT1A7, and UGT1A9 polymorphisms between Uzbek and Japanese populations.乌兹别克族和日本人群中 UGT1A1、UGT1A7 和 UGT1A9 多态性的差异。
Mol Diagn Ther. 2014 Jun;18(3):333-42. doi: 10.1007/s40291-014-0083-6.
3
The UGT1A9*22 genotype identifies a high-risk group for irinotecan toxicity among gastric cancer patients.UGT1A9*22基因型可识别出胃癌患者中对伊立替康毒性反应的高危人群。
Genomics Inform. 2022 Sep;20(3):e29. doi: 10.5808/gi.22051. Epub 2022 Sep 30.
4
Examination of multiple UGT1A and DPYD polymorphisms has limited ability to predict the toxicity and efficacy of metastatic colorectal cancer treated with irinotecan-based chemotherapy: a retrospective analysis.检测多个UGT1A和DPYD基因多态性对预测基于伊立替康的化疗治疗转移性结直肠癌的毒性和疗效的能力有限：一项回顾性分析。
BMC Cancer. 2017 Jun 20;17(1):437. doi: 10.1186/s12885-017-3406-2.
5
Link between colorectal cancer and polymorphisms in the uridine-diphosphoglucuronosyltransferase 1A7 and 1A1 genes.结直肠癌与尿苷二磷酸葡萄糖醛酸转移酶1A7和1A1基因多态性之间的联系。
World J Gastroenterol. 2005 Jun 7;11(21):3250-4. doi: 10.3748/wjg.v11.i21.3250.
6
Combined UGT1A1 and UGT1A7 variant alleles are associated with increased risk of Gilbert's syndrome in Taiwanese adults.UGT1A1和UGT1A7变异等位基因组合与台湾成年人患吉尔伯特综合征的风险增加相关。
Clin Genet. 2007 Oct;72(4):321-8. doi: 10.1111/j.1399-0004.2007.00873.x.
7
Interethnic Variations of UGT1A1 and UGT1A7 Polymorphisms in the Jordanian Population.约旦人群中 UGT1A1 和 UGT1A7 多态性的种族间差异。
Curr Drug Metab. 2019;20(5):399-410. doi: 10.2174/1389200220666190528085151.
8
[Influence of genetic polymorphisms in UGT1A1, UGT1A7 and UGT1A9 on the pharmacokynetics of irinotecan, SN-38 and SN-38G].[UGT1A1、UGT1A7和UGT1A9基因多态性对伊立替康、SN-38和SN-38G药代动力学的影响]
Farm Hosp. 2013 Mar-Apr;37(2):111-27. doi: 10.7399/FH.2013.37.2.386.
9
Common human UGT1A polymorphisms and the altered metabolism of irinotecan active metabolite 7-ethyl-10-hydroxycamptothecin (SN-38).常见的人类尿苷二磷酸葡萄糖醛酸转移酶1A（UGT1A）基因多态性与伊立替康活性代谢产物7-乙基-10-羟基喜树碱（SN-38）代谢改变
Mol Pharmacol. 2002 Sep;62(3):608-17. doi: 10.1124/mol.62.3.608.
引用本文的文献
1
detection using high-resolution agarose gel electrophoresis.使用高分辨率琼脂糖凝胶电泳进行检测。
Heliyon. 2024 Apr 27;10(9):e30465. doi: 10.1016/j.heliyon.2024.e30465. eCollection 2024 May 15.
2
Genetic Analysis of UGT1A1 Polymorphisms Using Preserved Dried Umbilical Cord for Assessing the Potential of Neonatal Jaundice as a Risk Factor for Autism Spectrum Disorder in Children.采用保存的干脐带进行 UGT1A1 多态性的遗传分析，以评估新生儿黄疸作为儿童自闭症谱系障碍的潜在风险因素。
J Autism Dev Disord. 2022 Feb;52(2):483-489. doi: 10.1007/s10803-021-04941-w. Epub 2021 Mar 17.
3
Association between polymorphisms in EGFR and tumor response during cetuximab and oxaliplatin-based combination therapy in metastatic colorectal cancer: Analysis of data from two clinical trials.表皮生长因子受体（EGFR）基因多态性与转移性结直肠癌在西妥昔单抗和奥沙利铂联合治疗期间肿瘤反应的相关性：两项临床试验数据分析
Oncol Lett. 2019 Nov;18(5):4555-4562. doi: 10.3892/ol.2019.10787. Epub 2019 Aug 29.
4
Ataluren Pharmacokinetics in Healthy Japanese and Caucasian Subjects.在健康的日本和白种人受试者中的衣替拉韦药代动力学。
Clin Pharmacol Drug Dev. 2019 Feb;8(2):172-178. doi: 10.1002/cpdd.645. Epub 2019 Jan 10.
5
Examination of multiple UGT1A and DPYD polymorphisms has limited ability to predict the toxicity and efficacy of metastatic colorectal cancer treated with irinotecan-based chemotherapy: a retrospective analysis.检测多个UGT1A和DPYD基因多态性对预测基于伊立替康的化疗治疗转移性结直肠癌的毒性和疗效的能力有限：一项回顾性分析。
BMC Cancer. 2017 Jun 20;17(1):437. doi: 10.1186/s12885-017-3406-2.
6
Association between UGT1A1*28*28 genotype and lung cancer in the Japanese population.UGT1A1*28*28基因型与日本人群肺癌之间的关联。
Int J Clin Oncol. 2017 Apr;22(2):269-273. doi: 10.1007/s10147-016-1061-2. Epub 2016 Nov 10.
7
Differences in UGT1A1, UGT1A7, and UGT1A9 polymorphisms between Uzbek and Japanese populations.乌兹别克族和日本人群中 UGT1A1、UGT1A7 和 UGT1A9 多态性的差异。
Mol Diagn Ther. 2014 Jun;18(3):333-42. doi: 10.1007/s40291-014-0083-6.
8
UGT1A1*6, 1A7*3, and 1A9*22 genotypes predict severe neutropenia in FOLFIRI-treated metastatic colorectal cancer in two prospective studies in Japan.UGT1A1*6、1A7*3 和 1A9*22 基因型可预测日本两项前瞻性研究中接受 FOLFIRI 治疗的转移性结直肠癌患者的严重中性粒细胞减少症。
Cancer Sci. 2013 Dec;104(12):1662-9. doi: 10.1111/cas.12283. Epub 2013 Oct 27.
本文引用的文献
1
Prospective phase II study of FOLFIRI for mCRC in Japan, including the analysis of UGT1A1 28/6 polymorphisms.日本前瞻性 II 期 FOLFIRI 方案治疗 mCRC 研究，包括 UGT1A1 28/6 多态性分析。
Jpn J Clin Oncol. 2011 Apr;41(4):477-82. doi: 10.1093/jjco/hyr001. Epub 2011 Feb 7.
2
Phase I study of irinotecan and doxifluridine for metastatic colorectal cancer focusing on the UGT1A1*28 polymorphism.伊立替康和多西氟尿苷治疗转移性结直肠癌的 I 期研究，重点关注 UGT1A1*28 多态性。
Cancer Sci. 2010 Mar;101(3):722-7. doi: 10.1111/j.1349-7006.2009.01428.x. Epub 2009 Nov 7.
3
Close association of UGT1A9 IVS1+399C>T with UGT1A1*28, *6, or *60 haplotype and its apparent influence on 7-ethyl-10-hydroxycamptothecin (SN-38) glucuronidation in Japanese.UGT1A9 IVS1+399C>T与UGT1A1*28、*6或*60单倍型的紧密关联及其对日本人群中7-乙基-10-羟基喜树碱（SN-38）葡萄糖醛酸化的明显影响。
Drug Metab Dispos. 2009 Feb;37(2):272-6. doi: 10.1124/dmd.108.024208. Epub 2008 Nov 3.
4
Phase I/II pharmacokinetic and pharmacogenomic study of UGT1A1 polymorphism in elderly patients with advanced non-small cell lung cancer treated with irinotecan.伊立替康治疗的老年晚期非小细胞肺癌患者UGT1A1基因多态性的I/II期药代动力学和药物基因组学研究
Clin Pharmacol Ther. 2009 Feb;85(2):149-54. doi: 10.1038/clpt.2008.152. Epub 2008 Aug 6.
5
Gilbert's Syndrome and irinotecan toxicity: combination with UDP-glucuronosyltransferase 1A7 variants increases risk.吉尔伯特综合征与伊立替康毒性：与尿苷二磷酸葡萄糖醛酸基转移酶1A7变体联合增加风险。
Cancer Epidemiol Biomarkers Prev. 2008 Mar;17(3):695-701. doi: 10.1158/1055-9965.EPI-07-2517.
6
UGT1A1 promoter genotype correlates with SN-38 pharmacokinetics, but not severe toxicity in patients receiving low-dose irinotecan.UGT1A1启动子基因型与SN-38的药代动力学相关，但与接受低剂量伊立替康治疗的患者的严重毒性无关。
J Clin Oncol. 2007 Jun 20;25(18):2594-600. doi: 10.1200/JCO.2006.10.2301.
7
Irinotecan pharmacokinetics/pharmacodynamics and UGT1A genetic polymorphisms in Japanese: roles of UGT1A1*6 and *28.伊立替康在日本人群中的药代动力学/药效学及UGT1A基因多态性：UGT1A1*6和*28的作用
Pharmacogenet Genomics. 2007 Jul;17(7):497-504. doi: 10.1097/FPC.0b013e328014341f.
8
Genetic linkage of UGT1A7 and UGT1A9 polymorphisms to UGT1A1*6 is associated with reduced activity for SN-38 in Japanese patients with cancer.UGT1A7和UGT1A9基因多态性与UGT1A1*6的遗传连锁与日本癌症患者中SN-38活性降低相关。
Cancer Chemother Pharmacol. 2007 Sep;60(4):515-22. doi: 10.1007/s00280-006-0396-1. Epub 2007 Apr 4.
9
Pharmacogenetic impact of polymorphisms in the coding region of the UGT1A1 gene on SN-38 glucuronidation in Japanese patients with cancer.UGT1A1基因编码区多态性对日本癌症患者SN-38葡萄糖醛酸化的药物遗传学影响。
Cancer Sci. 2006 Nov;97(11):1255-9. doi: 10.1111/j.1349-7006.2006.00321.x. Epub 2006 Sep 12.
10
UGT1A polymorphisms in a Swedish cohort and a human diversity panel, and the relation to bilirubin plasma levels in males and females.瑞典队列和人类多样性样本中的UGT1A基因多态性及其与男性和女性血浆胆红素水平的关系。
Eur J Clin Pharmacol. 2006 Oct;62(10):829-37. doi: 10.1007/s00228-006-0166-3. Epub 2006 Aug 15.
Zotero 插件