Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.
Chiea Chuen KhorTan DoHongyan JiaMasakazu NakanoRonnie GeorgeKhaled Abu-AmeroRoopam DuveshLi Jia ChenZheng LiMonisha E NongpiurShamira A PereraChunyan QiaoHon-Tym WongHiroshi SakaiMônica Barbosa de MeloMei-Chin LeeAnita S ChanYaakub AzhanyThi Lam Huong DaoYoko IkedaRodolfo A Perez-GrossmannTomasz ZarnowskiAlexander C DayJost B JonasPancy O S TamTuan Anh TranHumaira AyubFarah AkhtarShazia MichealPaul T K ChewLeyla A AljasimTanuj DadaTam Thi LuuMona S AwadallaNaris KitnarongBoonsong WanichwecharungruangYee Yee AungJelinar Mohamed-NoorSaravanan VijayanSripriya SarangapaniRahat HusainAliza JapMani BaskaranDavid GohDaniel H SuHuaizhou WangVernon K YongLeonard W YipTuyet Bach TrinhManchima MakornwattanaThanh Thu NguyenEdgar U LeuenbergerKi-Ho ParkWidya Artini WiyogoRajesh S KumarCelso TelloYasuo KurimotoSuman S ThapaKessara PathanapitoonJohn F SalmonYong Ho SohnAntonio FeaMineo OzakiJimmy S M LaiVisanee TantiseviChaw Chaw KhaingTakanori MizoguchiSatoko NakanoChan-Yun KimGuangxian TangSujie FanRenyi WuHailin MengThi Thuy Giang NguyenTien Dat TranMorio UenoJose Maria MartinezNorlina RamliYin Mon AungRigo Daniel ReyesStephen A VernonSeng Kheong FangZhicheng XieXiao Yin ChenJia-Nee FooKar-Seng SimTina T WongDesmond T QuekRengaraj VenkateshSrinivasan KavithaSubbiah R KrishnadasNagaswamy SoumittraBalekudaru ShanthaBoon-Ang LimJeanne OgleJosé P C de VasconcellosVital P CostaRicardo Y AbeBruno B de SouzaChelvin C SngMaria C AquinoEwa Kosior-JareckaGuillermo Barreto FongVania Castro TamanajaRicardo FujitaYuzhen JiangNaushin WaseemSancy LowHuan Nguyen PhamSami Al-ShahwanE Randy CravenMuhammad Imran KhanRrima DadaKuldeep MohantyMuneeb A FaiqAlex W HewittKathryn P BurdonEng Hui GanAnuwat PrutthipongsitThipnapa PatthanathamrongkasemMary Ann T CatacutanIrene R FelarcaChona S LiaoEmma RusmayaniVira Wardhana IstiantoroGiulia ConsolandiGiulia PignataCarlo LaviaPrin RojanapongpunLerprat MangkornkanokpongSunee ChansangpetchJonathan C H ChanBonnie N K ChoyJennifer W H ShumHlaing May ThanKhin Thida OoAye Thi HanVictor H YongXiao-Yu NgShuang Ru GohYaan Fun ChongMartin L HibberdMark SeielstadEileen PngSarah J DunstanNguyen Van Vinh ChauJinxin BeiYi Xin ZengAbhilasha KarkeyBuddha BasnyatFrancesca PasuttoDaniela PaoliPaolo FrezzottiJie Jin WangPaul MitchellJohn H FingertR Rand AllinghamMichael A HauserSoon Thye LimSoo Hong ChewRichard P EbsteinAnavaj SakuntabhaiKyu Hyung ParkJeeyun AhnGreet BolandHarm SnippeRichard SteadRaquel QuinoSu Nyunt ZawUrszula LukasikRohit ShettyMimiwati ZahariHyoung Won BaeNay Lin OoToshiaki KubotaAnita ManassakornWing Lau HoLaura DallortoYoung Hoon HwangChristine A KiireMasako KurodaZeiras Eka DjamalJovell Ian M PeregrinoArkasubhra GhoshJin Wook JeoungTung S HoanNuttamon SrisamranThayanithi SandragasuSaw Htoo SetVi Huyen DoanShomi S BhattacharyaChing-Lin HoDonald T TanRamanjit SihotaSeng-Chee LoonKazuhiko MoriShigeru KinoshitaAnneke I den HollanderRaheel QamarYa-Xing WangYik Y TeoE-Shyong TaiCurt Hartleben-MatkinDavid Lozano-GiralSeang Mei SawChing-Yu ChengJuan C ZentenoChi Pui PangHuong T T BuiOwen HeeJamie E CraigDeepak P EdwardMichiko YonaharaJamil Miguel NetoMaria L Guevara-FujitaLiang XuRobert RitchAhmad Tajudin Liza-SharminiTien Y WongSaleh Al-ObeidanNhu Hon DoPeriasamy SundaresanClement C ThamPaul J FosterLingam VijayaKei TashiroEranga N VithanaNingli WangTin AungPublished in: Nature genetics (2016)
Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10(-15)), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10(-16)), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10(-12)). We also confirmed significant association at three previously described loci (P < 5 × 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.