0000000000441494

AUTHOR

Nagahisa Yoshimura

showing 3 related works from this author

Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error

2013

Refractive errors are common eye disorders of public health importance worldwide. Ocular axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We conducted a meta-analysis of genome-wide association studies for AL, combining 12,531 Europeans and 8,216 Asians. We identified eight genome-wide significant loci for AL (RSPO1, C3orf26, LAMA2, GJD2, ZNRF3, CD55, MIP, and ALPPL2) and confirmed one previously reported AL locus (ZC3H11B). Of the nine loci, five (LAMA2, GJD2, CD55, ALPPL2, and ZC3H11B) were associated with refraction in 18 independent cohorts (n = 23,591). Differential gene expression was observed for these loci in minus-lens-induced myopia mouse …

AdultMaleRefractive errorAdolescentGene ExpressionLocus (genetics)Genome-wide association studyBiologyOcular Axial LengthPolymorphism Single NucleotideWhite PeopleArticle03 medical and health sciences0302 clinical medicineAsian PeopleSDG 3 - Good Health and Well-beingmedicineGeneticsHumansGWASGenetic Predisposition to DiseaseGenetics(clinical)RSPO1Eye ProteinsGeneGenetics (clinical)030304 developmental biologyGenetic associationAgedGenetics0303 health sciencesta1184HeritabilityMiddle Agedta3121medicine.diseaseRefractive ErrorsAxial Length EyeGenetic Loci030221 ophthalmology & optometryEye disorderFemaleGenome-Wide Association StudySignal Transduction
researchProduct

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
researchProduct

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
researchProduct