Global genetic analyses reveal strong inter-ethnic variability in the loss of activity of the organic cation transporter OCT1.

ABSTRACT:

Background

The organic cation transporter OCT1 (SLC22A1) mediates the uptake of vitamin B1, cationic drugs, and xenobiotics into hepatocytes. Nine percent of Caucasians lack or have very low OCT1 activity due to loss-of-function polymorphisms in OCT1 gene. Here we analyzed the global genetic variability in OCT1 to estimate the therapeutic relevance of OCT1 polymorphisms in populations beyond Caucasians and to identify evolutionary patterns of the common loss of OCT1 activity in humans.

Methods

We applied massively parallel sequencing to screen for coding polymorphisms in 1,079 unrelated individuals from 53 populations worldwide. The obtained data was combined with the existing 1000 Genomes data comprising an additional 1,092 individuals from 14 populations. The identified OC

SUBMITTER: Seitz T 

PROVIDER: S-EPMC4495841 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature