6533b85bfe1ef96bd12bb708
RESEARCH PRODUCT
Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology
Liang XuJessica N. Cooke BaileySeyhan YazarJaney L. WiggsJost B. JonasVictor KohAdriana I IglesiasYik Ying TeoHenriët SpringelkampTim D. SpectorPuya GharahkhaniTin AungNomdo M. JansoniusChiea Chuen KhorChiea Chuen KhorJonathan L. HainesAndré G. UitterlindenXiaoyan LuoRené HöhnArne SchillertPaul G. SanfilippoPaul G. SanfilippoAbhishek NagChristopher J HammondLouis R. PasqualeLouis R. PasqualeAlbert HofmanHannah ForwardPirro G. HysiHans G LemijLisa S. KearnsBen A. OostraElisabeth M. Van LeeuwenAyse DemirkanAyse DemirkanCaroline C W KlaverPaulus T. V. M. De JongPaulus T. V. M. De JongChing-yu ChengNajaf AminE-shyong TaiRoger C. W. WolfsAlex W. HewittAlex W. HewittStuart MacgregorCornelia M. Van DuijnTiger ZhouWishal D. RamdasFernando RivadeneiraJamie E CraigKathryn P. BurdonDavid A. MackeyDavid A. MackeySeng-chee LoonNorbert PfeifferJohannes R. VingerlingSven J. Van Der LeeAniket MishraKar Seng SimTerri L. YoungTien Yin WongSeang-mei SawEranga N. VithanaKarl J. Lacknersubject
Aginggenetic structuresEpidemiologyOptic diskGlaucomaGenome-wide association studyNeurodegenerativeEyeOptic neuropathyOptic Nerve DiseasesNERVEGWASGenetics (clinical)GeneticsNEIGHBORHOOD ConsortiumATOH7Asiansmedicine.anatomical_structurecup areaOptic nervePublic Health and Health ServicesOPEN-ANGLE GLAUCOMATRAITSOptic discAsian Continental Ancestry Groupmedicine.medical_specialtyOpen angle glaucomaEuropean Continental Ancestry GroupOptic DiskQuantitative Trait LociBiologyOCULAR-TISSUESRetinal ganglionArticleWhite PeopleAsian PeopleOphthalmologymedicineGeneticsHumansdisc areaEye Disease and Disorders of VisionWhitesHuman GenomeNeurosciencesGlaucomaGENOTYPESmedicine.diseaseGENEeye diseasesSIZEglaucomasense organsGenome-Wide Association Studydescription
Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, which is a clinically used measurement, and may shed light on new glaucoma mechanisms. We identified 10 new loci associated with disc area (CDC42BPA, F5, DIRC3, RARB, ABI3BP, DCAF4L2, ELP4, TMTC2, NR2F2, and HORMAD2) and another 10 new loci associated with cup area (DHRS3, TRIB2, EFEMP1, FLNB, FAM101, DDHD1, ASB7, KPNB1, BCAS3, and TRIOBP). The new genes participate in a number of pathways and future work is likely to identify more functions related to the pathogenesis of glaucoma. ? 2015
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2015-03-01 |