0000000000357001

AUTHOR

Isabelle Cleynen

showing 2 related works from this author

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis

2013

To access publisher's full text version of this article click on the hyperlink at the bottom of the page Primary sclerosing cholangitis (PSC) is a severe liver disease of unknown etiology leading to fibrotic destruction of the bile ducts and ultimately to the need for liver transplantation. We compared 3,789 PSC cases of European ancestry to 25,079 population controls across 130,422 SNPs genotyped using the Immunochip. We identified 12 genome-wide significant associations outside the human leukocyte antigen (HLA) complex, 9 of which were new, increasing the number of known PSC risk loci to 16. Despite comorbidity with inflammatory bowel disease (IBD) in 72% of the cases, 6 of the 12 loci sh…

Linkage disequilibriumHISTONE DEACETYLASEGenotyping Techniquesendocrine system diseasesGenome-wide association studyDiseaseBioinformaticsLinkage Disequilibrium0302 clinical medicineGene FrequencyRisk FactorsOligonucleotide Array Sequence Analysis0303 health sciencesCrohn's diseaseeducation.field_of_studydigestive oral and skin physiologyCELIAC-DISEASEGenetic PleiotropyLifrarsjúkdómar3. Good healthFALSE DISCOVERY RATEULCERATIVE-COLITISgenetic association studydisease genetics030211 gastroenterology & hepatologySUSCEPTIBILITY LOCIPopulationCholangitis SclerosingSingle-nucleotide polymorphismHuman leukocyte antigenGENETIC RISKBiologyliverPolymorphism Single Nucleotidedigestive systemArticlePrimary sclerosing cholangitis03 medical and health sciencesFUNCTIONAL SIMILARITYGeneticsmedicineHumansGENOME-WIDE ASSOCIATIONeducation030304 developmental biologyNATURAL-HISTORYArfgengimedicine.diseasedigestive system diseasesimmunogeneticsGenetic LociCase-Control StudiesImmunologyGenome-Wide Association StudyINFLAMMATORY-BOWEL-DISEASE
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Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci

2012

Background & Aims: A limited number of genetic risk factors have been reported in primary sclerosing cholangitis (PSC). To discover further genetic susceptibility factors for PSC, we followed up on,a second tier of single nucleotide polymorphisms (SNPs) from a genome-wide association study (GWAS). Methods: We analyzed 45 SNPs in 1221 PSC cases and 3508 controls. The association results from the replication analysis and the original GWAS (715 PSC cases and 2962 controls) were combined in a meta-analysis comprising 1936 PSC cases and 6470 controls. We performed an analysis of bile microbial community composition in 39 PSC patients by 16S rRNA sequencing. Results: Seventeen SNPs representing 1…

MaleLinkage disequilibriumendocrine system diseasesGenome-wide association studyPrimary biliary cirrhosisGenotypeBLOOD-GROUPBileChildPOPULATIONAged 80 and overGeneticseducation.field_of_studyPrimary sclerosing cholangitisdigestive oral and skin physiologyMiddle AgedFucosyltransferasesChild PreschoolDISEASESFemaleNeprilysinReceptors Tumor Necrosis Factor Member 14B-LYMPHOCYTEAdultRiskGenome-wide association studyAdolescentGenotypeSUSCEPTIBILITY LOCIFUT2Cholangitis SclerosingPopulationT-LYMPHOCYTE ATTENUATORSingle-nucleotide polymorphismBiologyPolymorphism Single Nucleotidedigestive systemArticlePrimary sclerosing cholangitisGenetic predispositionmedicineImmunogeneticsHumansGenetic Predisposition to DiseaseeducationMETAANALYSISAgedNON-SECRETOR STATUSHepatologymedicine.diseaseGENEdigestive system diseasesSingle nucleotide polymorphismGenetic LociImmunology
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