0000000000089615

AUTHOR

Eranga N. Vithana

showing 9 related works from this author

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

2013

The author manuscript of this article is open access and is freely available online at PubMed Central

medicine.medical_specialtyKeratoconusCorneal Pachymetrygenetic structuresthickness; keratoconus; geneGlaucomaOcular hypertensionGenome-wide association studyBiologyReal-Time Polymerase Chain ReactionKeratoconusWhite PeopleArticleCentral corneal thicknessCorneaAsian PeopleOphthalmologyCorneaOdds RatioGeneticsmedicineHumansCorneal pachymetrymedicine.diagnostic_testForkhead Box Protein O1Forkhead Transcription FactorsGlaucomaOdds ratioMicroarray Analysismedicine.diseaseConfidence intervaleye diseasesFibronectinsmedicine.anatomical_structureGenetic Locisense organsGenome-Wide Association Study
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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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New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

2017

Item does not contain fulltext Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable disease. Siblings of POAG cases have a ten-fold increased risk of developing the disease. Intraocular pressure (IOP) and optic nerve head characteristics are used clinically to predict POAG risk. We conducted a genome-wide association meta-analysis of IOP and optic disc parameters and validated our findings in multiple sets of POAG cases and controls. Using imputation to the 1000 genomes (1000G) reference set, we identified 9 new genomic regions associated with vertical cup-disc ratio (VCDR) and 1 new region associated with IOP. Additionally, we found 5 novel loci for optic ne…

0301 basic medicineMaleIntraocular pressuregenetic structuresOptic diskGlaucomaPROTEINGenome-wide association studyIDENTIFIES 5Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]Optic neuropathyOptic Nerve DiseasesPROSTATEGenetics (clinical)RISKAssociation Studies ArticlesCOMMON VARIANTSGeneral MedicineMiddle AgedCANCER3. Good healthmedicine.anatomical_structureOptic nerveFemaleGlaucoma Open-AngleOptic discCyclin-Dependent Kinase Inhibitor p21medicine.medical_specialtyOpen angle glaucomaSUSCEPTIBILITY LOCIOptic Disk610 Medicine & healthBiology03 medical and health sciencesTonometry OcularOphthalmologyGeneticsmedicineHumansGENOME-WIDE ASSOCIATIONMolecular BiologyIntraocular PressureHomeodomain ProteinsP53Genome HumanPOPULATION-BASED EPIDEMIOLOGYZebrafish Proteinsmedicine.diseaseeye diseases030104 developmental biologysense organsGenome-Wide Association StudyHuman Molecular 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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Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

2016

Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG…

0301 basic medicineRefractive errorgenetic structuresGeneral Physics and AstronomyGenome-wide association studyVARIANTSrefractive error ; geneEYEBioinformaticsINCIDENT MYOPIAGenome-wide association studiesSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]0302 clinical medicinePolymorphism (computer science)10. No inequalityPOPULATIONeducation.field_of_studyMultidisciplinaryQACTIVATED PROTEIN-KINASEta3142single-nucleotide polymorphismRETINAL-PIGMENT EPITHELIUMOUTDOOR ACTIVITY3142 Public health care science environmental and occupational health3. Good healthRefractive errorsMeta-analysislociEducational StatusSciencePopulation610 Medicine & healthEnvironmentBiologyta3111Polymorphism Single NucleotideArticleWhite PeopleGeneral Biochemistry Genetics and Molecular BiologyEducation03 medical and health sciencesAsian PeopleSDG 3 - Good Health and Well-beingGenetic variationmedicineHumansSNPGenetic Predisposition to Diseasemyopia3125 Otorhinolaryngology ophthalmologyGenetic variationeducationRECEPTORGene Expression Profilingta1184General ChemistryHeritabilitymedicine.diseaseeye diseasesta3125TIME OUTDOORS030104 developmental biologyGenetic LociEvolutionary biologyRISK-FACTORS030221 ophthalmology & optometryREsense organs3111 BiomedicineGenome-Wide Association StudyNature Communications
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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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Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

2015

Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, …

Aginggenetic structuresEpidemiologyOptic diskGlaucomaGenome-wide association studyNeurodegenerativeEyeOptic neuropathyOptic Nerve DiseasesNERVEGWASGenetics (clinical)GeneticsNEIGHBORHOOD ConsortiumATOH7Asiansmedicine.anatomical_structurecup areaOptic nervePublic Health and Health ServicesOPEN-ANGLE GLAUCOMATRAITSOptic discAsian Continental Ancestry Groupmedicine.medical_specialtyOpen angle glaucomaEuropean Continental Ancestry GroupOptic DiskQuantitative Trait LociBiologyOCULAR-TISSUESRetinal ganglionArticleWhite PeopleAsian PeopleOphthalmologymedicineGeneticsHumansdisc areaEye Disease and Disorders of VisionWhitesHuman GenomeNeurosciencesGlaucomaGENOTYPESmedicine.diseaseGENEeye diseasesSIZEglaucomasense organsGenome-Wide Association Study
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A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a …

2020

AbstractWe conducted a large multi-ethnic meta-analysis of genome-wide association studies for primary open-angle glaucoma (POAG) on a total of 34,179 cases vs 349,321 controls, and identified 127 independent risk loci, almost doubling the number of known loci for POAG. The majority of loci have broadly consistent effect across European, Asian and African ancestries. We identify a link, both genome-wide and at specific loci, between POAG and Alzheimer’s disease. Gene expression data and bioinformatic functional analyses provide further support for the functional relevance of the POAG risk genes. Several drug compounds target these risk genes and may be potential candidates for developing no…

Genetics0303 health sciencesgenetic structuresOpen angle glaucomaGlaucomaGenome-wide association studyDiseaseBiologymedicine.diseaseeye diseases3. Good health03 medical and health sciences0302 clinical medicineMeta-analysismedicinesense organsGene030217 neurology & neurosurgery030304 developmental biologyGenetic association
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