6533b81ffe1ef96bd12773c0
RESEARCH PRODUCT
Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error
Ching-yu ChengMaria SchacheM. Kamran IkramTerri L. YoungJeremy A. GuggenheimVeronique VitartStuart MacgregorVirginie J.m. VerhoevenVeluchamy A. BarathiJiemin LiaoPirro G. HysiJoan E. Bailey-wilsonBeate St PourcainJohn P. KempGeorge McmahonNicholas J. TimpsonDavid M. EvansGrant W. MontgomeryAniket MishraYa Xing WangJie Jin WangElena RochtchinaOzren PolasekAlan F. WrightNajaf AminElisabeth M. Van LeeuwenJames F. WilsonCraig E. PennellCornelia M. Van DuijnPaulus T.v.m. De JongJohannes R. VingerlingXin ZhouPeng ChenRuoying LiWan-ting TayYingfeng ZhengMerwyn ChewKathryn P. BurdonJamie E CraigSudha K. IyengarRobert P. IgoJonathan H. LassEmily Y. ChewToomas HallerEvelin MihailovAndres MetspaluJuho WedenojaClaire L. SimpsonRobert WojciechowskiRené HöhnAlireza MirshahiTanja ZellerNorbert PfeifferKarl J. LacknerThomas BetteckenThomas MeitingerKonrad OexleMario PirastuLaura PortasAbhishek NagKatie M. WilliamsEkaterina Yonova-doingRonald KleinBarbara E. KleinS. Mohsen HosseiniAndrew D. PatersonKari-matti MakelaTerho LehtimakiMika KahonenOlli RaitakariNagahisa YoshimuraFumihiko MatsudaLi Jia ChenChi Pui PangShea Ping YipMaurice K.h. YapAkira MeguroNobuhisa MizukiHidetoshi InokoPaul J. FosterJing Hua ZhaoEranga VithanaE-shyong TaiQiao FanLiang XuHarry CampbellBrian FleckIgor RudanTin AungAlbert HofmanAndré G. UitterlindenGoran BencicChiea Chuen KhorHannah ForwardOlavi PärssinenPaul MitchellFernando RivadeneiraAlex W. HewittCathy WilliamsBen A. OostraYik-ying TeoChristopher J HammondDwight StambolianDavid A. MackeyCaroline C.w. KlaverTien Yin WongSeang-mei SawPaul N. BairdWilliam ReinhartMichael W. BelinRobert L. SchultzeTodd MorasonAlan SugarShahzad MianHunson Kaz SoongKathryn ColbyUla JurkunasRichard YeeMark VitalEduardo AlfonsoCarol KarpYunhee LeeSonia YooKristin HammersmithElisabeth CohenPeter LaibsonChristopher RapuanoBrandon AyresChristopher CroasdaleJames CaudillSanjay PatelKeith BaratzWilliam BourneLeo MaguireJoel SugarElmer TuAli DjalilianVinod MoothaJames McculleyWayne BowmanH. Dwight CavanaughSteven VerityDavid VerdierAnn RenucciMatt OlivaWalter RotkisDavid R. HardtenAhmad FahmyMarlene BrownSherman ReevesElizabeth A. DavisRichard LindstromScott HauswirthStephen HamiltonW. Barry LeeFrancis PriceMarianne PriceKathleen KellyFaye PetersMichael ShaughnessyThomas SteinemannB.j. DuppsDavid M. MeislerMark MifflinRandal OlsonAnthony AldaveGary HollandBartly J. MondinoGeorge RosenwasserMark GorovoySteven P. DunnDavid G. HeidemannMark TerryNeda ShamieSteven I. RosenfeldBrandon SuedekumDavid HwangDonald StoneJames ChodoshPaul G. GalentineDavid BardensteinKatrina GoddardHemin ChinMark MannisRohit VarmaIngrid Boreckisubject
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 Transductiondescription
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 experiments and human ocular tissues. Two of the AL genes, RSPO1 and ZNRF3, are involved in Wnt signaling, a pathway playing a major role in the regulation of eyeball size. This study provides evidence of shared genes between AL and refraction, but importantly also suggests that these traits may have unique pathways.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2013-08-08 |