PBC Is Associated With a Genetic Variant in the 3? Flanking Region of the CTLA4 Gene

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Primary Biliary Cirrhosis Is Associated With a Genetic

Variant in the 3¡ì Flanking Region of the CTLA4 Gene

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.

http://www.sciencedirect.com/science?_ob=ArticleURL & _udi=B6WFX-4SWFNPG-1 & _user=10 & _coverDate=10%2F31%2F2008 & _rdoc=36 & _fmt=high & _orig=browse & _srch=doc-info(%23toc%236806%232008%23998649995%23699109%23FLA%23display%23Volume) & _cdi=6806 & _sort=d & _docanchor= & _ct=79 & _version=1 & _urlVersion=0 & _userid=10 & md5=dc58f5bfa97415b9e7934bd5e448acf2

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Son Ken (34) UC 91 PSC 99, LTX 6/21 & 6/30 2007

@ Baylor/Dallas