6533b86dfe1ef96bd12ca0a2
RESEARCH PRODUCT
Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci
Konstantinos N. LazaridisSeverine VermeireMichael WittigBjörn LindkvistH-erich WichmannRobert J. PorteChristian GiegerAndreas VillungerDavid EllinghausErik SchrumpfUlrich BeuersKristian HolmMartina SterneckJochen WedemeyerTobias J. WeismüllerBrian D. JuranChristoph SchrammPieter C. F. StokkersCisca WijmengaEuijung RyuJon K. LaerdahlStefan SchreiberKirsten Muri BobergAndreas TeufelTom H. KarlsenTobias BalschunEinar BjörnssonFelix OffnerJohannes R. HovMichael P. MannsAndre FrankeRinse K. WeersmaEspen MelumHeiko RunzPeter SauerVerena LabiEva EllinghausDaniel GotthardtCyriel Y. PonsioenAdolf StiehlChristian RustLiesbet HenckaertsAnnika Bergquistsubject
Cholangitis SclerosingPATHOGENESISSingle-nucleotide polymorphismGenome-wide association studyHuman leukocyte antigenBiologyInflammatory bowel diseasePolymorphism Single Nucleotidedigestive systemArticlePrimary sclerosing cholangitisPathogenesisCohort StudiesHLA AntigensProto-Oncogene ProteinsGeneticsmedicineHumansGenetic Predisposition to DiseaseBOWEL-DISEASEGenetic associationBcl-2-Like Protein 11Bile ductHepatocyte Growth FactorGene Expression Profilingdigestive oral and skin physiologyMembrane Proteinsmedicine.diseasedigestive system diseasesmedicine.anatomical_structureGenetic LociImmunologyApoptosis Regulatory ProteinsGenome-Wide Association Studydescription
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 x 10(-16) and P = 4.1 x 10(-8), respectively).
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2011-01-01 |