Primary biliary cirrhosis is associated with a genetic variant in the 3' flanking region of the CTLA4 gene.

ABSTRACT:

Background & aims

Genetic variation is invoked as a strong component underlying primary biliary cirrhosis (PBC) and other autoimmune disorders. Data suggest that some of this genetic risk is shared, affecting function of the immune mechanisms controlling self-tolerance. Cytotoxic T-lymphocyte antigen 4 (CTLA4) encodes a coinhibitory immunoreceptor that is a key regulator of self-tolerance with established genetic associations to multiple autoimmune diseases but conflicting evidence of involvement with PBC. We aimed to perform a more comprehensive assessment of CTLA4 genetic variation in PBC using a haplotype-tagging based approach.

Methods

Single nucleotide polymorphisms (SNPs) were genotyped in 402 PBC patients and 279 controls and evaluated for association with PBC and wit

SUBMITTER: Juran BD 

PROVIDER: S-EPMC2613835 | biostudies-literature | 2008 Oct

REPOSITORIES: biostudies-literature