title: Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci.
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).
authors.affiliation: Norwegian PSC Research Center, Clinic for Specialized Medicine and Surgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
authors.forename: Espen
authors.initials: E
authors.lastname: Melum
authors.forename: Andre
authors.initials: A
authors.lastname: Franke
authors.forename: Christoph
authors.initials: C
authors.lastname: Schramm
authors.forename: Tobias J
authors.initials: TJ
authors.lastname: Weismüller
authors.forename: Daniel Nils
authors.initials: DN
authors.lastname: Gotthardt
authors.forename: Felix A
authors.initials: FA
authors.lastname: Offner
authors.forename: Brian D
authors.initials: BD
authors.lastname: Juran
authors.forename: Jon K
authors.initials: JK
authors.lastname: Laerdahl
authors.forename: Verena
authors.initials: V
authors.lastname: Labi
authors.forename: Einar
authors.initials: E
authors.lastname: Björnsson
authors.forename: Rinse K
authors.initials: RK
authors.lastname: Weersma
authors.forename: Liesbet
authors.initials: L
authors.lastname: Henckaerts
authors.forename: Andreas
authors.initials: A
authors.lastname: Teufel
authors.forename: Christian
authors.initials: C
authors.lastname: Rust
authors.forename: Eva
authors.initials: E
authors.lastname: Ellinghaus
authors.forename: Tobias
authors.initials: T
authors.lastname: Balschun
authors.forename: Kirsten Muri
authors.initials: KM
authors.lastname: Boberg
authors.forename: David
authors.initials: D
authors.lastname: Ellinghaus
authors.forename: Annika
authors.initials: A
authors.lastname: Bergquist
authors.forename: Peter
authors.initials: P
authors.lastname: Sauer
authors.forename: Euijung
authors.initials: E
authors.lastname: Ryu
authors.forename: Johannes Roksund
authors.initials: JR
authors.lastname: Hov
authors.forename: Jochen
authors.initials: J
authors.lastname: Wedemeyer
authors.forename: Björn
authors.initials: B
authors.lastname: Lindkvist
authors.forename: Michael
authors.initials: M
authors.lastname: Wittig
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Porte
authors.forename: Kristian
authors.initials: K
authors.lastname: Holm
authors.forename: Christian
authors.initials: C
authors.lastname: Gieger
authors.forename: H-Erich
authors.initials: HE
authors.lastname: Wichmann
authors.forename: Pieter
authors.initials: P
authors.lastname: Stokkers
authors.forename: Cyriel Y
authors.initials: CY
authors.lastname: Ponsioen
authors.forename: Heiko
authors.initials: H
authors.lastname: Runz
authors.forename: Adolf
authors.initials: A
authors.lastname: Stiehl
authors.forename: Cisca
authors.initials: C
authors.lastname: Wijmenga
authors.forename: Martina
authors.initials: M
authors.lastname: Sterneck
authors.forename: Severine
authors.initials: S
authors.lastname: Vermeire
authors.forename: Ulrich
authors.initials: U
authors.lastname: Beuers
authors.forename: Andreas
authors.initials: A
authors.lastname: Villunger
authors.forename: Erik
authors.initials: E
authors.lastname: Schrumpf
authors.forename: Konstantinos N
authors.initials: KN
authors.lastname: Lazaridis
authors.forename: Michael P
authors.initials: MP
authors.lastname: Manns
authors.forename: Stefan
authors.initials: S
authors.lastname: Schreiber
authors.forename: Tom H
authors.initials: TH
authors.lastname: Karlsen
mesh_terms: D051017:Apoptosis Regulatory Proteins / Q000235:genetics; D000072224:Bcl-2-Like Protein 11; D015209:Cholangitis, Sclerosing / Q000235:genetics*; D015331:Cohort Studies; D020869:Gene Expression Profiling; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D055106:Genome-Wide Association Study; D006680:HLA Antigens / Q000235:genetics; D017228:Hepatocyte Growth Factor / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011518:Proto-Oncogene Proteins / Q000235:genetics
chemical_list: D051017:Apoptosis Regulatory Proteins; C000606775:BCL2L11 protein, human; D000072224:Bcl-2-Like Protein 11; D006680:HLA Antigens; D008565:Membrane Proteins; D011518:Proto-Oncogene Proteins; C082332:macrophage stimulating protein; D017228:Hepatocyte Growth Factor