Report of new haplotype for ABCC2 gene: Rs17222723 and rs8187718 in cis

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

Research output: Contribution to journalArticle

2 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)201-205
Number of pages5
JournalJournal of Molecular Diagnostics
Volume17
Issue number2
DOIs
StatePublished - Mar 1 2015

Fingerprint

irinotecan
Tenofovir
Haplotypes
Chromosomes
Hydroxymethylglutaryl-CoA Reductase Inhibitors
ATP-Binding Cassette Transporters
Pharmacogenetics
DNA
Carbamazepine
Fathers
Anticonvulsants
Cisplatin
Genes
Adenosine Triphosphate
Mothers
Membranes

ASJC Scopus subject areas

  • Molecular Medicine
  • Pathology and Forensic Medicine

Cite this

Report of new haplotype for ABCC2 gene : Rs17222723 and rs8187718 in cis. / Pratt, Victoria M.; Beyer, Brittany N.; Koller, Daniel L.; Skaar, Todd; Flockhart, David A.; Levy, Kenneth; Vance, Gail.

In: Journal of Molecular Diagnostics, Vol. 17, No. 2, 01.03.2015, p. 201-205.

Research output: Contribution to journalArticle

Pratt, Victoria M. ; Beyer, Brittany N. ; Koller, Daniel L. ; Skaar, Todd ; Flockhart, David A. ; Levy, Kenneth ; Vance, Gail. / Report of new haplotype for ABCC2 gene : Rs17222723 and rs8187718 in cis. In: Journal of Molecular Diagnostics. 2015 ; Vol. 17, No. 2. pp. 201-205.
@article{9594b279bc1b49d29e32f77fcc0ea811,
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.",
author = "Pratt, {Victoria M.} and Beyer, {Brittany N.} and Koller, {Daniel L.} and Todd Skaar and Flockhart, {David A.} and Kenneth Levy and Gail Vance",
year = "2015",
month = "3",
day = "1",
doi = "10.1016/j.jmoldx.2014.11.005",
language = "English",
volume = "17",
pages = "201--205",
journal = "Journal of Molecular Diagnostics",
issn = "1525-1578",
publisher = "Association of Molecular Pathology",
number = "2",

}

TY - JOUR

T1 - Report of new haplotype for ABCC2 gene

T2 - Rs17222723 and rs8187718 in cis

AU - Pratt, Victoria M.

AU - Beyer, Brittany N.

AU - Koller, Daniel L.

AU - Skaar, Todd

AU - Flockhart, David A.

AU - Levy, Kenneth

AU - Vance, Gail

PY - 2015/3/1

Y1 - 2015/3/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84922633022&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84922633022&partnerID=8YFLogxK

U2 - 10.1016/j.jmoldx.2014.11.005

DO - 10.1016/j.jmoldx.2014.11.005

M3 - Article

C2 - 25554586

AN - SCOPUS:84922633022

VL - 17

SP - 201

EP - 205

JO - Journal of Molecular Diagnostics

JF - Journal of Molecular Diagnostics

SN - 1525-1578

IS - 2

ER -