uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
Discovery of regulatory elements in human ATP-binding cassette transporters through expression quantitative trait mapping
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Pharmacy, Department of Pharmacy.
Show others and affiliations
2012 (English)In: The Pharmacogenomics Journal, ISSN 1470-269X, E-ISSN 1473-1150, Vol. 12, 214-226 p.Article in journal (Refereed) Published
Abstract [en]

ATP-binding cassette (ABC) membrane transporters determine the disposition of many drugs, metabolites and endogenous compounds. Coding region variation in ABC transporters is the cause of many genetic disorders, but much less is known about the genetic basis and functional outcome of ABC transporter expression level variation. We used genotype and mRNA transcript level data from human lymphoblastoid cell lines to assess population and gender differences in ABC transporter expression, and to guide the discovery of genomic regions involved in transcriptional regulation. Nineteen of 49 ABC genes were differentially expressed between individuals of African, Asian and European descent, suggesting an important influence of race on expression level of ABC transporters. Twenty-four significant associations were found between transporter transcript levels and proximally located genetic variants. Several of the associations were experimentally validated in reporter assays. Through influencing ABC expression levels, these single-nucleotide polymorphisms may affect disease susceptibility and response to drugs.

Place, publisher, year, edition, pages
2012. Vol. 12, 214-226 p.
National Category
Medical and Health Sciences
Research subject
Pharmaceutical Science
URN: urn:nbn:se:uu:diva-198089DOI: 10.1038/tpj.2011.8PubMedID: 21383772OAI: oai:DiVA.org:uu-198089DiVA: diva2:615159
Available from: 2013-04-09 Created: 2013-04-09 Last updated: 2013-07-23Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Matsson, Pär
By organisation
Department of Pharmacy
In the same journal
The Pharmacogenomics Journal
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 170 hits
ReferencesLink to record
Permanent link

Direct link