0000000000904833

AUTHOR

P Deloukas

showing 4 related works from this author

Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene

2011

The chromosome 16p13 region has been associated with several autoimmune diseases, including type 1 diabetes (T1D) and multiple sclerosis (MS). CLEC16A has been reported as the most likely candidate gene in the region, since it contains the most disease-associated single-nucleotide polymorphisms (SNPs), as well as an imunoreceptor tyrosine-based activation motif. However, here we report that intron 19 of CLEC16A, containing the most autoimmune disease-associated SNPs, appears to behave as a regulatory sequence, affecting the expression of a neighbouring gene, DEXI. The CLEC16A alleles that are protective from T1D and MS are associated with increased expression of DEXI, and no other genes in …

Candidate geneQuantitative Trait LociSingle-nucleotide polymorphismBiologyPolymerase Chain ReactionPolymorphism Single NucleotideMonocytesAutoimmune Diseases03 medical and health sciences0302 clinical medicineGeneticsHumansEnhancerMolecular BiologyGeneGenetics (clinical)030304 developmental biologyGenetics0303 health sciencesIntronMembrane ProteinsPromoterGeneral MedicineArticlesDNADNA-Binding ProteinsRegulatory sequenceCandidate Disease Gene030217 neurology & neurosurgeryChromosomes Human Pair 16Human Molecular Genetics
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Defining the role of common variation in the genomic and biological architecture of adult human height

2014

Item does not contain fulltext Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated approximately 2,000, approximately 3,700 and approximately 9,500 SNPs explained approximately 21%, approximately 24% and approximately 29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes…

Netherlands Twin Register (NTR)BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICAElectronic Medical Records and Genomics (eMEMERGEGE) ConsortiumMedizinGenome-wide association studyAdult; Analysis of Variance; Body Height/genetics; European Continental Ancestry Group/genetics; Genetic Variation/genetics; Genetics Population; Genome-Wide Association Study/methods; Humans; Oligonucleotide Array Sequence Analysis; Polymorphism Single Nucleotide/geneticsheritability0302 clinical medicineGenome-wideEuropean Continental Ancestry Group/geneticsSNPSOligonucleotide Array Sequence AnalysissnpsGenetics & Heredityddc:616GeneticsMedical And Health Sciences0303 health scienceseducation.field_of_studyvariantsBody Height/geneticsGENETIC-VARIATIONBiological SciencesPolymorphism Single Nucleotide/geneticsGenetic Variation/geneticsUrological cancers Radboud Institute for Health Sciences [Radboudumc 15]Genome-Wide Association Study/methodsbody heightgenetic-variationLife Sciences & BiomedicineSingle Nucleotide/geneticsHumanAdultEuropean Continental Ancestry GroupPopulationPopulationSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticleWhite PeopleNOcomplex traits03 medical and health sciencesGenetic variationheritability adult height/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_GeneticsHumansPolymorphismHuman heightPAGEGE ConsortiumeducationGeneVLAG030304 developmental biologyGlobal NutritionWereldvoedingAnalysis of VarianceGenome-wide; heritability; variantsgenome-wide association studyScience & TechnologyWhitesOligonucleotide Array Sequence AnalysiMUTATIONSCOMPLEX TRAITSta1184Klinisk medicinpopulation geneticsGenetic VariationHeritabilityta3121mutationsGenetic architectureBody HeightGenetics Populationgenetic variationMIGen ConsortiumInflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5]Clinical Medicine030217 neurology & neurosurgeryheightLifeLines Cohort StudyDevelopmental BiologyGenome-Wide Association StudyNature genetics
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Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

2011

1. The CARDIoGRAM Consortium. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nature Genetics. 2011;43:333–338. ### Study Hypothesis Recently, genome-wide association studies (GWAS) have identified several common variants that are associated with risk of coronary artery disease (CAD) and myocardial infarction (MI). The authors state that the current loci discovered in CAD and MI GWAS explain only a small fraction of the heritability of this complex disease. The authors hypothesized that a larger study would provide more power to discover common variants with modest effect sizes. Therefore, they formed the Coronary ARtery DIsease Genome-wid…

AdultMaleMultifunction cardiogramLocus (genetics)Single-nucleotide polymorphismGenome-wide association studyCoronary Artery DiseaseBiologyPolymorphism Single NucleotideGenetic determinismartery diseaseArticleCoronary artery diseaseGene FrequencySDG 3 - Good Health and Well-beingRisk FactorsGeneticsmedicineHumansGenetic Predisposition to Diseasecardiovascular diseasesAlleleGenotypingAllele frequencycoronaryAllelesGenetics (clinical)AgedGenetic associationGeneticsbusiness.industrycoronary; artery diseaseCase-control studyMiddle Agedmedicine.diseasecoronary artery disease; Large-scale association analysisCase-Control StudiesFemaleCardiology and Cardiovascular MedicinebusinessGenome-Wide Association Study
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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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