0000000000586966

AUTHOR

R D'inca

showing 2 related works from this author

Inflammatory Bowel Disease Phenotype as Risk Factor for Cancer in a Prospective Multicentre Nested Case-Control IG-IBD Study

2016

Background and Aims: Cancer risk in inflammatory bowel disease [IBD] is still debated. In a prospective, multicentre, nested case-control study, we aimed to characterise incident cases of cancer in IBD. The role of immunomodulators vs clinical characteristics of IBD as risk factors for cancer was also investigated. Materials and Methods: From January 2012 to December 2014, each IBD patient with incident cancer was matched with two IBD patients without cancer for: IBD type, gender, and age. Risk factors were assessed by multivariate regression analysis. Results: IBD patients considered numbered 44619: 21953 Crohn’s disease \[CD], 22666 ulcerative colitis [UC]. Cancer occurred in 174 patients…

AdultMalemedicine.medical_specialtyPancolitisAdolescentColorectal cancerphenotypeSettore MED/12 - GASTROENTEROLOGIAcancer riskInflammatory bowel disease; cancer risk; phenotype; Adolescent; Adult; Aged; Aged 80 and over; Case-Control Studies; Female; Follow-Up Studies; Humans; Immunologic Factors; Incidence; Inflammatory Bowel Diseases; Logistic Models; Male; Middle Aged; Multivariate Analysis; Neoplasms; Prospective Studies; Risk Factors; Young Adult; PhenotypeGastroenterologyInflammatory bowel diseaseInflammatory bowel disease03 medical and health sciencesYoung Adult0302 clinical medicineRisk FactorsInternal medicineNeoplasms80 and overmedicineHumansImmunologic FactorsProspective StudiesRisk factorProspective cohort studyAgedAged 80 and overbusiness.industryIncidenceSettore MED/09 - MEDICINA INTERNAGastroenterologyCancerGeneral MedicineMiddle Agedmedicine.diseaseInflammatory Bowel DiseasesUlcerative colitisLogistic Models030220 oncology & carcinogenesisCase-Control StudiesNested case-control studyMultivariate Analysis030211 gastroenterology & hepatologyFemalemedicine.symptombusinessInflammatory bowel disease; cancer risk; phenotypeFollow-Up Studies
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IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes

2018

GWAS have identified >200 risk loci for Inflammatory Bowel Disease (IBD). The majority of disease associations are known to be driven by regulatory variants. To identify the putative causative genes that are perturbed by these variants, we generate a large transcriptome data set (nine disease-relevant cell types) and identify 23,650 cis-eQTL. We show that these are determined by ∼9720 regulatory modules, of which ∼3000 operate in multiple tissues and ∼970 on multiple genes. We identify regulatory modules that drive the disease association for 63 of the 200 risk loci, and show that these are enriched in multigenic modules. Based on these analyses, we resequence 45 of the corresponding 100 ca…

AdultMaleMultifactorial InheritanceQUANTITATIVE TRAIT LOCUSGenotypeSEQUENCING DATAQuantitative Trait LociSUSCEPTIBILITYPolymorphism Single NucleotideArticleCohort StudiesCODING VARIANTSCrohn Disease80 and overJournal ArticleMedicine and Health SciencesLOCUSHumansGenetic Predisposition to DiseasePolymorphismGENOME-WIDE ASSOCIATIONGenetic Association StudiesAgedAged 80 and overScience & TechnologyAdult; Aged; Aged 80 and over; Cohort Studies; Crohn Disease; Female; Gene Expression Profiling; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Humans; Inflammatory Bowel Diseases; Male; Middle Aged; Polymorphism Single Nucleotide; Quantitative Trait Loci; Sequence Analysis DNA; Multifactorial InheritanceGene Expression ProfilingCOMPLEX TRAITSBiology and Life SciencesSequence Analysis DNASingle NucleotideDNAMiddle AgedInflammatory Bowel DiseasesCROHNS-DISEASEMultidisciplinary SciencesQUANTITATIVE TRAITRARE VARIANTSScience & Technology - Other TopicsFemaleLOW-FREQUENCYSequence AnalysisINFLAMMATORY-BOWEL-DISEASE
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