6533b821fe1ef96bd127bb60
RESEARCH PRODUCT
Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error
Qiao FanAlfred PozarickijNicholas Y. Q. TanXiaobo GuoVirginie J. M. VerhoevenVeronique VitartJeremy A. GuggenheimMasahiro MiyakeJ. Willem L. TidemanAnthony P. KhawajaLiang ZhangStuart MacgregorRené HöhnPeng ChenGinevra BiinoJuho WedenojaSeyed Ehsan SaffariMilly S. TedjaJing XieCarla LancaYa Xing WangSrujana SahebjadaJohanna MazurAlireza MirshahiNicholas G. MartinSeyhan YazarCraig E. PennellMaurice YapAnnechien E. G. HaarmanClair A. EnthovenJanroelof PollingJoan E. Bailey-wilsonAmutha Barathi VeluchamyKathryn P. BurdonHarry CampbellLi Jia ChenEmily Y. ChewJamie E. CraigPhillippa M. CumberlandMargaret M. DeangelisCécile DelcourtXiaohu DingDavid M. EvansPuya GharahkhaniAdriana I. IglesiasToomas HallerXikun HanQuan HoangRobert P. IgoSudha K. IyengarMika KähönenJaakko KaprioBarbara E. KleinRonald KleinJonathan H. LassKris LeeTerho LehtimäkiDeyana D. LewisQing LiShi-ming LiLeo-pekka LyytikäinenAkira MeguroAndres MetspaluCandace D. MiddlebrooksNobuhisa MizukiAnthony M. MusolfStefan NickelsKonrad OexleChi Pui PangAndrew D. PatersonJugnoo S. RahiOlli RaitakariIgor RudanDwight StambolianClaire L. SimpsonNingli WangWen Bin WeiKatie M. WilliamsJames F. WilsonRobert WojciechowskiKenji YamashiroJason C. S. YamXiangtian ZhouTariq AslamSarah A. BarmanJenny H. BarrettPaul BishopPeter BlowsCatey BunceRoxana O. CarareUsha ChakravarthyMichelle ChanSharon Y. L. ChuaDavid P. CrabbPhilippa M. CumberlandAlexander DayParul DesaiBal DhillonAndrew D. DickCathy EganSarah EnnisMarcus FruttigerJohn E. J. GallacherDavid F. Garway-heathJane GibsonDan GoreAlison HardcastleSimon P. HardingRuth E. HoggPearse A. KeaneSir Peng T. KhawGerassimos LascaratosAndrew J. LoteryTom MacgillivraySarah MackieKeith MartinMichelle McgaugheyBernadette McguinnessGareth J. MckayMartin MckibbinDanny MitryTony MooreJames E. MorganZaynah A. MuthyEoin O’sullivanChris G. OwenPraveen PatelEuan PatersonTunde PetoAxel PetzoldJugnoo S. RahiAlicja R. RudnikcaJay SelfSobha SivaprasadDavid SteelIrene StrattonNicholas StrouthidisCathie SudlowDhanes ThomasEmanuele TruccoAdnan TufailStephen A. VernonAnanth C. ViswanathanKatie WilliamsJayne V. WoodsideMax M. YatesJennifer YipYalin ZhengAlex W. HewittVincent W. V. JaddoeCornelia M. Van DuijnCaroline HaywardOzren PolasekE-shyong TaiHosoda YoshikatsuPirro G. HysiTerri L. YoungAkitaka TsujikawaJie Jing WangPaul MitchellNorbert PfeifferOlavi PärssinenPaul J. FosterMaurizio FossarelloShea Ping YipCathy WilliamsChristopher J. HammondJost B. JonasMingguang HeDavid A. MackeyTien-yin WongCaroline C. W. KlaverSeang-mei SawPaul N. BairdChing-yu Chengsubject
genetic structureslikinäköisyyssense organsgeneettiset tekijäteye diseasesdescription
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. peerReviewed
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2020-01-01 |