Search results for "eye size"

showing 3 items of 3 documents

Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive err…

2020

Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects …

0301 basic medicinegenetic structuresMedicine (miscellaneous)EmmetropiaGenome-wide association studyVARIANTSGenome-wide association studiesSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]Cornea0302 clinical medicineRisk FactorsCorneaDatabases GeneticMULTIPLEMyopiaGene Regulatory NetworksEXPRESSION PATTERNS10. No inequalitylcsh:QH301-705.5POPULATIONGeneticseducation.field_of_studymedicine.diagnostic_testHERITABILITYCorneal DiseasesAsian Continental Ancestry Group ; Axial Length Eye ; Cornea ; Corneal Topography ; Databases Genetic ; European Continental Ancestry Group ; Gene Regulatory Networks ; Genetic Loci ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Myopia ; Phenotype ; Polymorphism Single Nucleotide ; Refractometry ; Risk Assessment ; Risk FactorsCorneal topographyEYE SIZE3. Good healthAxial Length EyePhenotypemedicine.anatomical_structureGeneral Agricultural and Biological SciencesExtracellular matrix organizationKeratoconusCorneal diseasesPopulationBiologyPolymorphism Single NucleotideRisk AssessmentArticleWhite PeopleGeneral Biochemistry Genetics and Molecular BiologyOCULAR COMPONENT DIMENSIONS03 medical and health sciencesSPHERICAL EQUIVALENTAsian PeoplemedicineHumansGenetic Predisposition to DiseaseKERATOCONUS3125 Otorhinolaryngology ophthalmologyeducationCorneal Topographymedicine.diseaseCOLLAGENeye diseasesRefractometry030104 developmental biologylcsh:Biology (General)Genetic LociRE3111 Biomedicinesense organs030217 neurology & neurosurgeryGenome-Wide Association StudyCommunications Biology
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Genetic variants associated with human eye size are distinct from those conferring susceptibility to myopia

2021

Purpose: Emmetropization requires coordinated scaling of the major ocular components, corneal curvature and axial length. This coordination is achieved in part through a shared set of genetic variants that regulate eye size. Poorly coordinated scaling of corneal curvature and axial length results in refractive error. We tested the hypothesis that genetic variants regulating eye size in emmetropic eyes are distinct from those conferring susceptibility to refractive error.Methods: A genome-wide association study (GWAS) for corneal curvature in 22,180 adult emmetropic individuals was performed as a proxy for a GWAS for eye size. A polygenic score created using lead GWAS variants was tested for…

MaleRefractive errorLinkage disequilibriumgenetic structuresLOCIEmmetropiaGenome-wide association studyPRSS56AXIAL LENGTHLinkage Disequilibrium0302 clinical medicineCORNEAL CURVATURECorneaMyopiarefractive errorChild0303 health sciencesHERITABILITYMiddle Agedgenetic correlationAxial Length Eyemedicine.anatomical_structureeye sizeGROWTHFemaleAdultmedicine.medical_specialtyUK BiobankAdolescentBiologyRefraction OcularGenetic correlationPolymorphism Single NucleotideOCULAR COMPONENT DIMENSIONS03 medical and health sciencesYoung AdultOphthalmologymedicineGeneticsHumansGenetic Predisposition to Disease3125 Otorhinolaryngology ophthalmologyGENOME-WIDE ASSOCIATIONMETAANALYSIS030304 developmental biologyAgedmedicine.diseaseeye diseasesGenetic marker030221 ophthalmology & optometryHuman eyesense organsGenome-Wide Association StudyInvestigative Ophthalmology & Visual Science
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Genetic Variants Associated With Human Eye Size Are Distinct From Those Conferring Susceptibility to Myopia

2021

Purpose: Emmetropization requires coordinated scaling of the major ocular components, corneal curvature and axial length. This coordination is achieved in part through a shared set of genetic variants that regulate eye size. Poorly coordinated scaling of corneal curvature and axial length results in refractive error. We tested the hypothesis that genetic variants regulating eye size in emmetropic eyes are distinct from those conferring susceptibility to refractive error. Methods: A genome-wide association study (GWAS) for corneal curvature in 22,180 adult emmetropic individuals was performed as a proxy for a GWAS for eye size. A polygenic score created using lead GWAS variants was tested fo…

UK Biobankgenetic structureseye sizetaittovirheetlikinäköisyyssense organsrefractive errormyopiageneettiset tekijätgenetic correlationeye diseasessilmät
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