Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes

@article{Hirschfield2012AssociationOP,
  title={Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes},
  author={Gideon M. Hirschfield and Gang Xie and En-jie Lu and Ye Sun and Brian D. Juran and Vasant Chellappa and Catalina Coltescu and Andrew L. Mason and Piotr Milkiewicz and Robert P. Myers and Joseph A. Odin and Velimir A.C. Luketic and Bruce Bacon and Henry C. Bodenheimer and Valentina Liakina and Catherine Vincent and Cynthia Levy and Smitha Pillai and Konstantinos N. Lazaridis and Christopher I. Amos and Katherine Anne Siminovitch},
  journal={Genes and Immunity},
  year={2012},
  volume={13},
  pages={328-335}
}
We fine mapped two primary biliary cirrhosis (PBC) risk loci, CLEC16A (C-type lectin domain family 16 member A)–suppressor of cytokine signaling 1 (SOCS1) and Spi-B protein (SPIB) and sequenced a locus, sialic acid acetylesterase (SIAE), proposed to harbor autoimmunity-associated mutations. In all, 1450 PBC cases and 2957 healthy controls were genotyped for 84 single-nucleotide polymorphisms (SNPs) across the CLEC16A-SOCS1 and SPIB loci. All 10 exons of the SIAE gene were resequenced in 381… CONTINUE READING
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