0000000000357007

AUTHOR

Stephan Brand

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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Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

2010

We undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS) comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the top association signals in 15,694 cases, 14,026 controls and 414 parent-offspring trios. We identified 30 new susceptibility loci meeting genome-wide significance (P < 5 x 10(-8)). A series of in silico analyses highlighted particular genes within these loci and, together with manual curation, implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3A, DENND1B, BACH2 and TAGAP. Combined with previously confirmed loci, these results identify 71 distinct loci with gen…

Candidate geneGenetic LinkagePROTEINGenome-wide association studyInflammatory bowel diseaseGenomeACTIVATION0302 clinical medicineCrohn DiseaseSEQUENCE VARIANTSGenetics0303 health sciencesGenomeNEDD4 FAMILYCOMMON VARIANTSASSOCIATION3. Good health030220 oncology & carcinogenesis10076 Center for Integrative Human PhysiologyComputational Biology; Crohn Disease; Genetic Linkage; Genetic Loci; Genetic Variation; Genome Human; Humans; Reproducibility of Results; Genetic Predisposition to Disease; Genome-Wide Association Study; Geneticsinflammatory-bowel-disease sequence variants common variants nedd4 family association gene identification receptor protein activationHuman/dk/atira/pure/subjectarea/asjc/1300/1311Locus (genetics)610 Medicine & healthBiology03 medical and health sciences1311 GeneticsGenetic linkagemedicineGeneticsHumansGenetic Predisposition to Disease030304 developmental biologyGenetic associationIDENTIFICATIONRECEPTORComputational BiologyGenetic VariationReproducibility of Resultsmedicine.diseaseGENESettore MED/03 - Genetica Medica10199 Clinic for Clinical Pharmacology and ToxicologyGenetic Loci570 Life sciences; biologyHuman genomegenome-wide scan.meta-analysis.crohn's diseaseGenome-Wide Association StudyINFLAMMATORY-BOWEL-DISEASE
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