Pathway-based analysis of primary biliary cirrhosis genome-wide association studies

S. P. Kar, M. F. Seldin, W. Chen, E. Lu, G. M. Hirschfield, P. Invernizzi, J. Heathcote, D. Cusi, M. E. Gershwin, K. A. Siminovitch, C. I. Amos

Research output: Contribution to journalArticlepeer-review


Genome-wide association studies (GWAS) have successfully identified several loci associated with primary biliary cirrhosis (PBC) risk. Pathway analysis complements conventional GWAS analysis. We applied the recently developed linear combination test for pathways to datasets drawn from independent PBC GWAS in Italian and Canadian subjects. Of the Kyoto Encyclopedia of Genes and Genomes and BioCarta pathways tested, 25 pathways in the Italian dataset (449 cases, 940 controls) and 26 pathways in the Canadian dataset (530 cases, 398 controls) were associated with PBC susceptibility (P

Original languageEnglish
Pages (from-to)179-186
Number of pages8
JournalGenes and Immunity
Issue number3
Publication statusPublished - Apr 2013


  • autoimmune disease
  • hedgehog signaling
  • linear combination test
  • phosphatidylinositol signaling

ASJC Scopus subject areas

  • Genetics(clinical)
  • Immunology
  • Genetics


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