Functional characterization of genetic variants in the apical sodium-dependent bile acid transporter (ASBT; SLC10A2).

ABSTRACT:

Background and aim

The major transporter responsible for bile acid uptake from the intestinal lumen is the apical sodium-dependent bile acid transporter (ASBT, SLC10A2). Analysis of the SLC10A2 gene has identified a variety of sequence variants including coding region single nucleotide polymorphisms (SNPs) that may influence bile acid homeostasis/intestinal function. In this study, we systematically characterized the effect of coding SNPs on SLC10A2 protein expression and bile acid transport activity.

Methods

Single nucleotide polymorphisms in SLC10A2 from genomic DNA of ethnically-defined healthy individuals were identified using a polymerase chain reaction (PCR)-based temperature gradient capillary electrophoresis (TGCE) system. A heterologous gene expression system was us

SUBMITTER: Ho RH 

PROVIDER: S-EPMC3170668 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature