0000000000115154

AUTHOR

Lennart C. Karssen

0000-0002-1959-342x

showing 5 related works from this author

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

2014

Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 x 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 x 10(-11) for rs2472493 near ABCA1 and P = 6.39 x 10(-11) for rs8176693…

MaleIntraocular pressuregenetic structuresGlaucomaGenome-wide association studyCohort Studies0302 clinical medicinePolymorphism (computer science)Risk FactorsPOPULATIONGeneticsAged 80 and overRISK0303 health scienceseducation.field_of_studyCOMMON VARIANTSASSOCIATIONMiddle AgedFemaleTRIALChromosomes Human Pair 3OPEN-ANGLE GLAUCOMAChromosomes Human Pair 9Glaucoma Open-AngleATP Binding Cassette Transporter 1AdultEXPRESSIONmedicine.medical_specialtyOpen angle glaucomaGenotypePopulationChromosome 9BiologyPolymorphism Single NucleotideArticleABO Blood-Group System03 medical and health sciencesYoung AdultMeta-Analysis as TopicOphthalmologyGeneticsmedicineHumansGenetic Predisposition to DiseaseeducationCENTRAL CORNEAL THICKNESSIntraocular PressureMETAANALYSIS030304 developmental biologyGenetic associationAgedChromosomes Human Pair 11Glaucomamedicine.diseaseeye diseasesFibronectinsREDUCTIONGenetic Loci030221 ophthalmology & optometrysense organsGenome-Wide Association StudyNature Genetics
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Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

2013

Author version made available in accordance with the publisher's policy.

Candidate geneRefractive errorBone Morphogenetic Protein 2Genome-wide association studyVARIANTSGenomeGenome-wide association studies0302 clinical medicineRisk FactorsMyopiaGRIA4Genetics0303 health sciencesKCNQ Potassium ChannelsDisease geneticsEYE GROWTHASSOCIATIONRETINAL-PIGMENT EPITHELIUMRefractive ErrorsGenetic load3. Good healthADAPTED MOUSE RETINAMeta-analysisACIDPOTASSIUM CHANNELEXPRESSIONSingle-nucleotide polymorphismBiologyWhite PeopleArticle03 medical and health sciencesAsian PeoplemedicineGeneticsHumansGenetic Predisposition to DiseaseReceptors AMPAgene; myopia; refractive030304 developmental biologyHomeodomain Proteinsta1184ta3121medicine.diseaseGENEAlcohol OxidoreductasesSERINE-PROTEASEbiology.protein030221 ophthalmology & optometrySusceptibility locusTrans-ActivatorsEye disorderLamininSerine ProteasesGWAS; meta-analyses; refractive error; myopiaGenome-Wide Association StudyNature Genetics
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A Genome-Wide Screen for Interactions Reveals a New Locus on 4p15 Modifying the Effect of Waist-to-Hip Ratio on Total Cholesterol

2011

Recent genome-wide association (GWA) studies described 95 loci controlling serum lipid levels. These common variants explain ∼25% of the heritability of the phenotypes. To date, no unbiased screen for gene–environment interactions for circulating lipids has been reported. We screened for variants that modify the relationship between known epidemiological risk factors and circulating lipid levels in a meta-analysis of genome-wide association (GWA) data from 18 population-based cohorts with European ancestry (maximum N = 32,225). We collected 8 further cohorts (N = 17,102) for replication, and rs6448771 on 4p15 demonstrated genome-wide significant interaction with waist-to-hip-ratio (WHR) on …

Netherlands Twin Register (NTR)Adipose Tissue/metabolismAdipose Tissue/metabolism; Body Fat Distribution; Cadherins/genetics; Cholesterol/blood; Cholesterol/genetics; Chromosome Mapping; Chromosomes Human Pair 4/genetics; European Continental Ancestry Group/genetics; Genome-Wide Association Study; Genotype; Humans; Lipids/blood; Lipids/genetics; Lipoproteins/blood; Lipoproteins/genetics; Phenotype; Polymorphism Single Nucleotide; Quantitative Trait Loci/genetics; Risk Factors; Triglycerides/blood; Triglycerides/genetics; Waist-Hip RatioGenome-wide association study0302 clinical medicineGenetics(clinical)AetiologyEuropean Continental Ancestry Group/genetics0303 health scienceseducation.field_of_studyta3141ta3142ASSOCIATIONCadherinsLipids3. Good healthTriglycerides/bloodCholesterolAdipose TissueDENSITY-LIPOPROTEIN CHOLESTEROLTRIGLYCERIDEChromosomes Human Pair 4SMOKING/dk/atira/pure/subjectarea/asjc/1100/1105Human/dk/atira/pure/subjectarea/asjc/1300/1311/dk/atira/pure/subjectarea/asjc/1300/1312GenotypeLipoproteinseducationEuropean Continental Ancestry GroupQuantitative Trait LociLocus (genetics)Cholesterol/bloodWhite People03 medical and health sciencesSDG 3 - Good Health and Well-beingClinical ResearchGenome-Wide Association StudiesGeneticsHumansPolymorphismeducationBiologyMolecular BiologyPOLYMORPHISMSEcology Evolution Behavior and Systematics0604 GeneticsHDL CHOLESTEROLScience & TechnologyCadherins/geneticsChromosomes Human Pair 4/geneticsQuantitative Trait Loci/geneticsDensity-lipoprotein cholesterol; HDL chloesterol; Association; Gene; Smoking; Plasma; Triglyeride; Obesity; Lipids; PolymorphismsDevelopmental BiologyCancer Research030204 cardiovascular system & hematologyWaist–hip ratioRisk FactorsGenotype2.1 Biological and endogenous factorsBody Fat DistributionGENETICS & HEREDITYGenetics (clinical)GeneticsPLASMAChromosome MappingSingle NucleotideENGAGE ConsortiumPair 4/geneticsPhenotypePair 4OBESITY/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being/dk/atira/pure/subjectarea/asjc/1300/1306Life Sciences & BiomedicineResearch ArticleLIPIDSlcsh:QH426-470PopulationQuantitative trait locusBiologyPolymorphism Single NucleotideChromosomes/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_Lipoproteins/bloodgene ; waist-to-hip ratio ; cholesterolAlleleTriglycerides030304 developmental biologyWhitesLipids/bloodWaist-Hip RatioHuman GenomeHuman Genetics/dk/atira/pure/subjectarea/asjc/2700/2716HeritabilityGENEProtocadherinslcsh:Genetics3111 BiomedicineGenome-Wide Association StudyPLoS Genetics
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Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.

2012

Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on …

PopulationLocus (genetics)Genome-wide association studySingle-nucleotide polymorphismBiologyPolymorphism Single Nucleotide03 medical and health sciences0302 clinical medicineMyopiaGeneticsHumansSNPGenetics(clinical)AlleleeducationAllelesGenetics (clinical)Original Investigation030304 developmental biologyGenetic associationGeneticsChromosomes Human Pair 150303 health scienceseducation.field_of_study3. Good healthPhenotype030221 ophthalmology & optometryPopulation studyRE
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Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM conso…

2015

To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 years (4 cohorts, N = 5,640); and all independent individuals from the above three samples combined with a sample of Chinese subjects aged <25 years (N = 45,931). Participants were classified as cases with refractive astigmatism if the average cylinder power in their two eyes was at least 1.00 diopter and as controls otherwise. Genome-wide association analysis was carried out for …

MaleRefractive errorBLUE MOUNTAINS EYECORNEAL ASTIGMATISMSpherical equivalentGenome-wide association studyastigmatism; gene; SNPDISEASECohort Studies0302 clinical medicineStatisticsGenetics(clinical)Neural Cell Adhesion MoleculesPOPULATIONGenetics (clinical)Original InvestigationGenetics0303 health scienceseducation.field_of_studyAge FactorsHigh Mobility Group ProteinsMiddle Aged3142 Public health care science environmental and occupational health3. Good healthFemaleOPEN-ANGLE GLAUCOMAAdultGenetic MarkersEXPERIMENTALLY-INDUCED MYOPIAKeratoconusSUSCEPTIBILITY LOCICell Adhesion Molecules NeuronaleducationPopulationNerve Tissue ProteinsAstigmatismBiologyWhite People03 medical and health sciencesAGEAsian PeopleMAJOR LOCUSmedicineGeneticsHumans3125 Otorhinolaryngology ophthalmologyeducation030304 developmental biologyGenetic associationCalcium-Binding ProteinsAstigmatismHeritabilitymedicine.diseaseNONCODING RNAS030221 ophthalmology & optometryGenome-Wide Association Study
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