6533b860fe1ef96bd12c2fab
RESEARCH PRODUCT
Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error
Q. FanA. PozarickijN. Y. Q. TanX. GuoV. J. M. VerhoevenV. VitartJ. A. GuggenheimM. MiyakeJ. W. L. TidemanA. P. KhawajaL. ZhangS. MacgregorR. HöhnP. ChenG. BiinoJ. WedenojaS. E. SaffariM. S. TedjaJ. XieC. LancaY. X. WangS. SahebjadaJ. MazurA. MirshahiN. G. MartinS. YazarC. E. PennellM. YapA. E. G. HaarmanC. A. EnthovenJ. R. PollingJ. E. Bailey-wilsonA. B. VeluchamyK. P. BurdonH. CampbellL. J. ChenE. Y. ChewJ. E. CraigP. M. CumberlandM. M. DeangelisC. DelcourtX. DingD. M. EvansP. GharahkhaniA. I. IglesiasT. HallerX. HanQ. HoangR. P. IgoS. K. IyengarM. KähönenJ. KaprioB. E. KleinR. KleinJ. H. LassK. LeeT. LehtimäkiD. D. LewisQ. LiS. M. LiL. P. LyytikäinenA. MeguroA. MetspaluC. D. MiddlebrooksN. MizukiA. M. MusolfS. NickelsK. OexleC. P. PangA. D. PatersonJ. S. RahiO. RaitakariI. RudanD. StambolianC. L. SimpsonN. WangW. Bin WeiK. M. WilliamsJ. F. WilsonR. WojciechowskiK. YamashiroJ. C. S. YamX. ZhouT. AslamS. A. BarmanJ. H. BarrettP. BishopP. BlowsC. BunceR. O. CarareU. ChakravarthyM. ChanS. Y. L. ChuaD. P. CrabbP. M. CumberlandA. DayP. DesaiB. DhillonA. D. DickC. Egansubject
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 Studydescription
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 on eye elongation. Implicated genes are involved in extracellular matrix organization, developmental process for body and eye, connective tissue cartilage and glycosylation protein activities. Our study provides insights into population-specific novel genes for corneal curvature, and their pleiotropic effect in regulating eye size or conferring susceptibility to myopia.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2020-03-19 | Communications Biology |