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Pharmacogenomics J. 2013 Oct;13(5):396-402. doi: 10.1038/tpj.2012.20. Epub 2012 Jun 5.
2
Lack of association between ABCC2 gene variants and treatment response in epilepsy.ABCC2 基因变异与癫痫治疗反应之间缺乏关联。
Pharmacogenomics. 2012 Jan;13(2):185-90. doi: 10.2217/pgs.11.143.
3
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome.
Clin Genet. 2010 Dec;78(6):598-600. doi: 10.1111/j.1399-0004.2010.01497.x.
4
Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.107 份 CYP2D6、CYP2C19、CYP2C9、VKORC1 和 UGT1A1 基因组 DNA 参考品的特征分析：GeT-RM 和分子病理学协会合作项目。
J Mol Diagn. 2010 Nov;12(6):835-46. doi: 10.2353/jmoldx.2010.100090. Epub 2010 Oct 1.
5
Polymorphisms of MRP2 (ABCC2) are associated with susceptibility to nonalcoholic fatty liver disease.多药耐药相关蛋白2（ABCC2）的多态性与非酒精性脂肪性肝病的易感性相关。
J Nutr Biochem. 2009 Oct;20(10):765-70. doi: 10.1016/j.jnutbio.2008.07.005. Epub 2008 Oct 15.
6
Influence of genetic polymorphisms on intestinal expression and rifampicin-type induction of ABCC2 and on bioavailability of talinolol.基因多态性对ABCC2肠道表达、利福平型诱导作用及他林洛尔生物利用度的影响。
Pharmacogenet Genomics. 2008 Apr;18(4):357-65. doi: 10.1097/FPC.0b013e3282f974b7.
7
Association of the multidrug-resistance-associated protein gene (ABCC2) variants with intrahepatic cholestasis of pregnancy.多药耐药相关蛋白基因（ABCC2）变异与妊娠期肝内胆汁淤积症的关联。
J Hepatol. 2008 Jan;48(1):125-32. doi: 10.1016/j.jhep.2007.08.015. Epub 2007 Oct 23.
8
Association between ABCC2 gene haplotypes and tenofovir-induced proximal tubulopathy.ABCC2基因单倍型与替诺福韦诱导的近端肾小管病之间的关联。
J Infect Dis. 2006 Dec 1;194(11):1481-91. doi: 10.1086/508546. Epub 2006 Oct 26.
9
Structure and function of the MRP2 (ABCC2) protein and its role in drug disposition.多药耐药相关蛋白2（ABCC2）的结构、功能及其在药物处置中的作用。
Expert Opin Drug Metab Toxicol. 2006 Jun;2(3):351-66. doi: 10.1517/17425255.2.3.351.
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Interindividual variability of canalicular ATP-binding-cassette (ABC)-transporter expression in human liver.人肝脏中胆小管ATP结合盒（ABC）转运蛋白表达的个体间变异性。
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ABCC2基因新单倍型报告：顺式排列的rs17222723和rs8187718

Report of new haplotype for ABCC2 gene: rs17222723 and rs8187718 in cis.

作者信息

Pratt Victoria M, Beyer Brittany N, Koller Daniel L, Skaar Todd C, Flockhart David A, Levy Kenneth D, Vance Gail H

机构信息

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.

出版信息

J Mol Diagn. 2015 Mar;17(2):201-5. doi: 10.1016/j.jmoldx.2014.11.005. Epub 2014 Dec 29.

DOI:10.1016/j.jmoldx.2014.11.005
PMID:25554586
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4348475/
Abstract

The ATP-binding cassette, subfamily C [CFTR/MRP], member 2 (ABCC2) gene is a member of the ATP-binding cassette transporters and is involved in the transport of molecules across cellular membranes. Substrates transported by ABCC2 include antiepileptics, statins, tenofovir, cisplatin, irinotecan, and carbamazepine. Because of the pharmacogenomics implications, we developed a clinical laboratory-developed assay to test for seven variants in the ABCC2 gene: c.3563T>A (p.V1188E, rs17222723), c.1249G>A (p.V417I, rs2273697), c.3972C>T (p.I1324I, rs3740066), c.2302C>T (p.R768W, rs56199535), c.2366C>T (p.S789F, rs56220353), c.-24C>T (5'UTR, rs717620), and c.4544G>A (p.C1515Y, rs8187710). During the validation process, we noted several DNA samples, obtained from the Coriell Cell Repository, that contained both c.3563T>A, c.4544G>A, and a third variant, suggesting that c.3563T>A and c.4544G>A are in cis on the chromosome in some individuals. We obtained DNA samples from a trio (father, mother, and child), tested their ABCC2 variants, and confirmed that c.3563T>A and c.4544G>A were in cis on the same chromosome. Here, we report a new haplotype in ABCC2.

摘要

ATP结合盒转运体C亚家族[CFTR/MRP]成员2（ABCC2）基因是ATP结合盒转运体家族的成员，参与分子跨细胞膜的转运。ABCC2转运的底物包括抗癫痫药、他汀类药物、替诺福韦、顺铂、伊立替康和卡马西平。鉴于药物基因组学的意义，我们开发了一种临床实验室自建检测方法，用于检测ABCC2基因中的7种变异：c.3563T>A（p.V1188E，rs17222723）、c.1249G>A（p.V417I，rs2273697）、c.3972C>T（p.I1324I，rs3740066）、c.2302C>T（p.R768W，rs56199535）、c.2366C>T（p.S789F，rs56220353）、c.-24C>T（5'UTR，rs717620）和c.4544G>A（p.C1515Y，rs8187710）。在验证过程中，我们注意到从科里尔细胞库获得的几个DNA样本同时包含c.3563T>A、c.4544G>A和第三种变异，这表明在某些个体中，c.3563T>A和c.4544G>A在染色体上处于顺式排列。我们从一个三人组（父亲、母亲和孩子）获取DNA样本，检测他们的ABCC2变异，并证实c.3563T>A和c.4544G>A在同一条染色体上处于顺式排列。在此，我们报告ABCC2中的一种新单倍型。