0000000000441503

AUTHOR

Hannah Forward

showing 2 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
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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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