Italian PBC Study

A Genome-wide association study of primary biliary cirrhosis (PBC) with an Italian cohort and loci meeting suggestive criteria were confirmed using a replication dataset from a previous Canadian study. The results confirmed associations for IL12A, IL12RB2, and HLA (peak between DQA1 and DQB1) and identified novel associations with IKZF3/ORMDL3 on chromosome 17, SPIB on chromosome 19, and IRF5 on chromosome. These studies also provided definition of haplotypic associations, differences between the PBC associated chromosome 17 haplotype and that of pediatric asthma and suggested several other genes as candidates for PBC susceptibility including DENND1B.]]>
Italian PBC Study ProtocolPMC3150510).
]]>All PBC cases met accepted international criteria for the diagnosis of PBC, including a cholestatic pattern of serum biochemistry for >6 months and liver histology compatible with or diagnostic of PBC. The majority of controls had no known history of any autoimmune disease. All cases and controls were unrelated and met identity-by-state criteria for excluding first and second degree relatives. All subjects had Italian ancestry as estimated by principal component analyses.]]>