6533b7d0fe1ef96bd125a336

RESEARCH PRODUCT

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

Caroline C W KlaverXiaoyan LuoAlbert HofmanArni B StefanssonChristopher J HammondFridbert JonassonLouis R. PasqualeLouis R. PasqualeNorbert PfeifferJun LiJohannes R. VingerlingGudmar ThorleifssonNicholas G. MartinRené HöhnAnanth C. ViswanathanSarah EnnisJonathan L. HainesCraig E. PennellVesteinn JonssonJessica N. Cooke BaileyKathryn P. BurdonLennart C. KarssenCéline BellenguezCéline BellenguezCéline BellenguezPirro G. HysiPhilipp S. WildDominiek D. G. DesprietJames F. WilsonCécile DelcourtCécile DelcourtJamie E CraigMichael A. HauserPhilippe AmouyelLeonieke M E Van KoolwijkAndrea SenftChiea Chuen KhorChiea Chuen KhorTien Yin WongTin AungTanja ZellerNomdo M. JansoniusYik Ying TeoYingfeng ZhengTerri L. YoungDavid A. MackeyDavid A. MackeyBrian W FleckRoger C. W. WolfsVeronique VitartChing-yu ChengPaulus T. V. M. De JongPaulus T. V. M. De JongJoan E. Bailey-wilsonKari StefanssonAlireza MirshahiLisa S. KearnsJames F KirwanBen A. OostraAndrew J. LoterySayoko E. MoroiRhys FogartyHenriët SpringelkampR. Rand AllinghamEranga N. VithanaJulia E. RichardsAndré G. UitterlindenWishal D. RamdasCristina VenturiniCristina VenturiniPaul LeoKerrin S. SmallFernando RivadeneiraStuart MacgregorJiemin LiaoKarl J. LacknerCornelia M. Van DuijnSandra E StaffieriAlex W. HewittHans G LemijSeang-mei SawSeyhan YazarJaney L. WiggsGabriel Cuellar-partidaJae H. KangAbhishek NagAdriana I IglesiasNajaf AminTim D. SpectorClaire L. SimpsonCécilia MaubaretCécilia MaubaretRobert WojciechowskiRobert WojciechowskiE-shyong TaiLiang XuYa Xing WangElisabeth M. Van LeeuwenAyse Bilge OzelUnnur ThorsteinsdottirStephanie J. Loomis

subject

MaleIntraocular pressuregenetic structuresGlaucomaGenome-wide association studyCohort Studies0302 clinical medicinePolymorphism (computer science)Risk FactorsPOPULATIONGeneticsAged 80 and overRISK0303 health scienceseducation.field_of_studyCOMMON VARIANTSASSOCIATIONMiddle AgedFemaleTRIALChromosomes Human Pair 3OPEN-ANGLE GLAUCOMAChromosomes Human Pair 9Glaucoma Open-AngleATP Binding Cassette Transporter 1AdultEXPRESSIONmedicine.medical_specialtyOpen angle glaucomaGenotypePopulationChromosome 9BiologyPolymorphism Single NucleotideArticleABO Blood-Group System03 medical and health sciencesYoung AdultMeta-Analysis as TopicOphthalmologyGeneticsmedicineHumansGenetic Predisposition to DiseaseeducationCENTRAL CORNEAL THICKNESSIntraocular PressureMETAANALYSIS030304 developmental biologyGenetic associationAgedChromosomes Human Pair 11Glaucomamedicine.diseaseeye diseasesFibronectinsREDUCTIONGenetic Loci030221 ophthalmology & optometrysense organsGenome-Wide Association Study

description

Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 x 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 x 10(-11) for rs2472493 near ABCA1 and P = 6.39 x 10(-11) for rs8176693 within ABO) and one on chromosome 11p11.2 (best P = 1.04 x 10(-11) for rs747782). Separate meta-analyses of 4 independent POAG cohorts, totaling 4,284 cases and 95,560 controls, showed that 3 of these loci for IOP were also associated with POAG.

yearjournalcountryeditionlanguage
2014-10-01Nature Genetics
10.1038/ng.3087https://pure.eur.nl/en/publications/4b859410-3363-4564-9294-9cc3251696e5