0000000001144861

AUTHOR

D Schulte

showing 2 related works from this author

Acute Cerebrovascular Disease in the Young

2013

Background and Purpose— Strokes have especially devastating implications if they occur early in life; however, only limited information exists on the characteristics of acute cerebrovascular disease in young adults. Although risk factors and manifestation of atherosclerosis are commonly associated with stroke in the elderly, recent data suggests different causes for stroke in the young. We initiated the prospective, multinational European study Stroke in Young Fabry Patients (sifap) to characterize a cohort of young stroke patients. Methods— Overall, 5023 patients aged 18 to 55 years with the diagnosis of ischemic stroke (3396), hemorrhagic stroke (271), transient ischemic attack (1071) we…

AdultMalemedicine.medical_specialtyPediatricsAdolescentischemiccauseCohort StudiesYoung AdultRisk FactorsmedicineHumansrisk factorsProspective Studiescardiovascular diseasesYoung adultProspective cohort studyStrokeAdvanced and Specialized NursingIntracerebral hemorrhageFabry diseaseCerebral infarctionbusiness.industryAge Factorsimagingyoung strokeMiddle Agedmedicine.diseaseintracerebral hemorrhagestrokeFabry diseaseEuropeStrokeCerebrovascular DisordersNeurologytransient ischemic attackAcute DiseaseCohortPhysical therapyFabry DiseaseFemaleNeurology (clinical)Cardiology and Cardiovascular MedicinebusinessCohort studyStroke
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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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