학술논문

Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye
Research / Original Investigation
Document Type
Report
Author
Li, ZhengWang, ZhenxunLee, Mei ChinZenkel, MatthiasPeh, EstherOzaki, MineoTopouzis, FotisNakano, SatokoChan, AnitaChan, ShuwenWilliams, Susan E.I.Orr, AndrewNakano, MasakazuKobakhidze, NinoZarnowski, TomaszPopa-Cherecheanu, AlinaMizoguchi, TakanoriManabe, Shin-ichiHayashi, KenKazama, ShigeyasuInoue, KenjiMori, YosaiMiyata, KazunoriSugiyama, KazihusaHigashide, TomomiChihara, EtsuoIdeta, RyuichiIshiko, SatoshiYoshida, AkitoshiTokumo, KanaKiuchi, YoshiakiOhashi, TsutomuSakurai, ToshiyaSugimoto, TakakoChuman, HidekiAihara, MakotoInatani, MasaruMori, KazuhikoIkeda, YokoUeno, MorioGaston, DanielRafuse, PaulShuba, LesyaSaunders, JosephNicolela, MarceloChichua, GeorgeTabagari, SergoFounti, PanayiotaSim, Kar SengMeah, Wee YangSoo, Hui MengChen, Xiao YinChatzikyriakidou, AnthiKeskini, ChristinaPappas, TheofanisAnastasopoulos, EleftheriosLambropoulos, AlexandrosPanagiotou, Evangelia S.Mikropoulos, Dimitrios G.Kosior-Jarecka, EwaCheong, AugustineLi, YuanhanLukasik, UrszulaNongpiur, Monisha E.Husain, RahatPeresa, Shamira A.Alvarez, LydiaGarcia, MontserratGonzalez-Iglesias, HectorCueto, Andres F.V.Cueto, Luis F.V.Martinon-Torres, FedericoSalas, AntonioOguz, CilingirTamcelik, NevbaharAtalay, ErayBatu, BilgeIrkec, MuratAktas, DilekKasim, BurcuAstakhov, Yury S.Astakhov, Sergei Y.Akopov, Eugeny L.Giessl, AndreasMardin, ChristianHellerbrand, ClausCooke Bailey, Jessica N.Igo, Robert P., Jr.Haines, Jonathan L.Edward, Deepak P.Heegaard, SteffenDavila, SoniaTan, PatrickKang, Jae H.Pasquale, Louis R.Kruse, Friedrich E.Reis, AndreCarmichael, Trevor R.Hauser, MichaelRamsay, MicheleMossbock, GeorgYildirim, NilgunTashiro, KeiKonstas, Anastasios G.P.Coca-Prados, MiguelFoo, Jia NeeKinoshita, ShigeruSotozono, ChieKubota, ToshiakiDubina, MichaelRitch, RobertWiggs, Janey L.Pasutto, FrancescaSchlotzer-Schrehardt, UrsulaHo, Ying SwanAung, TinTam, Wai LeongKhor, Chiea Chuen
Source
JAMA, The Journal of the American Medical Association. Feb 23, 2021, Vol. 325 Issue 8, p753, 12 p.
Subject
Physiological aspects
Genetic aspects
Risk factors
Eye -- Physiological aspects
Eye -- Genetic aspects
Glaucoma -- Genetic aspects
Glaucoma -- Risk factors
Language
English
ISSN
0098-7484
Abstract
The relationship between exfoliation syndrome and protein-changing variants is examined. The presence of exfoliation syndrome is significantly associated with the carriage of functionally deficient CYP39A1 variants.