Common genetic variation and haplotypes of the anion exchanger SLC4A2 in primary biliary cirrhosis.

ABSTRACT:

Objectives

Deficiencies of the anion exchanger SLC4A2 are thought to play a pathogenic role in primary biliary cirrhosis (PBC), as the evidenced by decreased expression and activity in PBC patients and development of disease features in SLC4A2 knockout mice. We hypothesized that genetic variation in SLC4A2 might influence this pathogenic contribution. Thus, we aimed to perform a comprehensive assessment of SLC4A2 genetic variation in PBC using a linkage disequilibrium (LD)-based haplotype-tagging approach.

Methods

Twelve single nucleotide polymorphisms (SNPs) across SLC4A2 were genotyped in 409 PBC patients and 300 controls and evaluated for association with disease, as well as with prior orthotopic liver transplant and antimitochondrial antibody (AMA) status among the PBC p

SUBMITTER: Juran BD 

PROVIDER: S-EPMC2853916 | biostudies-literature | 2009 Jun

REPOSITORIES: biostudies-literature