0000000000441513

AUTHOR

Kathryn Colby

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
researchProduct

Lens regeneration in children.

2018

0301 basic medicine03 medical and health sciencesmedicine.medical_specialty030104 developmental biology0302 clinical medicineMultidisciplinarybusiness.industryOphthalmologyRegeneration (biology)030221 ophthalmology & optometrymedicineLens (geology)businessNature
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