0000000001020034

AUTHOR

H Hakonarson

showing 2 related works from this author

Large-scale gene-centric analysis identifies novel variants for coronary artery disease.

2011

Coronary artery disease (CAD) has a significant genetic contribution that is incompletely characterized. To complement genome-wide association (GWA) studies, we conducted a large and systematic candidate gene study of CAD susceptibility, including analysis of many uncommon and functional variants. We examined 49,094 genetic variants in ∼2,100 genes of cardiovascular relevance, using a customised gene array in 15,596 CAD cases and 34,992 controls (11,202 cases and 30,733 controls of European descent; 4,394 cases and 4,259 controls of South Asian origin). We attempted to replicate putative novel associations in an additional 17,121 CAD cases and 40,473 controls. Potential mechanisms through w…

MaleCancer ResearchCandidate geneEpidemiologyGenome-wide association studyCoronary Artery Disease030204 cardiovascular system & hematologyCardiovascular0302 clinical medicineGENETICS & HEREDITYGenetics (clinical)Genetics0303 health sciencesCardiovascular diseases [NCEBP 14]Middle Aged3. Good healthCYP17A1Genetic EpidemiologyGenome-wide association; Myocardial-infarction; Susceptibility loci; Risk; Atherosclerosis; Metanalysis; LipoproteinMedicineFemaleLife Sciences & BiomedicineResearch ArticleAsian Continental Ancestry GroupAdultRiskSUSCEPTIBILITY LOCIlcsh:QH426-470European Continental Ancestry GroupBiologyPolymorphism Single Nucleotidecoronary artery disease; geneticsWhite People03 medical and health sciencesSDG 3 - Good Health and Well-beingAsian PeopleGenetic variationGeneticsHumansGenetic Predisposition to DiseaseGENOME-WIDE ASSOCIATIONAlleleMolecular BiologyGeneBiologyMETAANALYSISEcology Evolution Behavior and SystematicsGenetic Association StudiesCardiovascular Disease EpidemiologyAlleles030304 developmental biologyAged0604 GeneticsScience & TechnologyCase-control studyGenetic VariationHuman GeneticsOdds ratiolarge-scale gene analysiscoronary artery disease; large-scale gene analysislcsh:GeneticsLIPOPROTEINMYOCARDIAL-INFARCTIONATHEROSCLEROSISCase-Control StudiesGenetics of DiseaseIBC 50K CAD ConsortiumDevelopmental BiologyGenome-Wide Association Study
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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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