title: Report of new haplotype for ABCC2 gene: rs17222723 and rs8187718 in cis.
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.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana. Electronic address: vpratt@iu.edu.
authors.forename: Victoria M
authors.initials: VM
authors.lastname: Pratt
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
authors.forename: Brittany N
authors.initials: BN
authors.lastname: Beyer
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
authors.forename: Daniel L
authors.initials: DL
authors.lastname: Koller
authors.affiliation: Department of Clinical Pharmacology, Indiana University School of Medicine, Indianapolis, Indiana.
authors.forename: Todd C
authors.initials: TC
authors.lastname: Skaar
authors.affiliation: Department of Clinical Pharmacology, Indiana University School of Medicine, Indianapolis, Indiana.
authors.forename: David A
authors.initials: DA
authors.lastname: Flockhart
authors.affiliation: Department of Clinical Pharmacology, Indiana University School of Medicine, Indianapolis, Indiana.
authors.forename: Kenneth D
authors.initials: KD
authors.lastname: Levy
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
authors.forename: Gail H
authors.initials: GH
authors.lastname: Vance
mesh_terms: D005260:Female; D006239:Haplotypes / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007150:Immunohistochemistry; D066298:In Vitro Techniques; D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics
chemical_list: D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins; C000715087:ABCC2 protein, human