Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci

Nat Genet. 2011 Jan;43(1):17-9. doi: 10.1038/ng.728. Epub 2010 Dec 12.

Abstract

Primary sclerosing cholangitis (PSC) is a chronic bile duct disease affecting 2.4-7.5% of individuals with inflammatory bowel disease. We performed a genome-wide association analysis of 2,466,182 SNPs in 715 individuals with PSC and 2,962 controls, followed by replication in 1,025 PSC cases and 2,174 controls. We detected non-HLA associations at rs3197999 in MST1 and rs6720394 near BCL2L11 (combined P = 1.1 × 10⁻¹⁶ and P = 4.1 × 10⁻⁸, respectively).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Apoptosis Regulatory Proteins / genetics
  • Bcl-2-Like Protein 11
  • Cholangitis, Sclerosing / genetics*
  • Cohort Studies
  • Gene Expression Profiling
  • Genetic Loci
  • Genetic Predisposition to Disease / genetics*
  • Genome-Wide Association Study*
  • HLA Antigens / genetics
  • Hepatocyte Growth Factor / genetics
  • Humans
  • Membrane Proteins / genetics
  • Polymorphism, Single Nucleotide
  • Proto-Oncogene Proteins / genetics

Substances

  • Apoptosis Regulatory Proteins
  • BCL2L11 protein, human
  • Bcl-2-Like Protein 11
  • HLA Antigens
  • Membrane Proteins
  • Proto-Oncogene Proteins
  • macrophage stimulating protein
  • Hepatocyte Growth Factor