{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Genetics of Exfoliation Syndrome Partnership"],"funding":["NEI NIH HHS","NCI NIH HHS"],"pagination":["753-764"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7903258"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["325(8)"],"pubmed_abstract":["<h4>Importance</h4>Exfoliation syndrome is a systemic disorder characterized by progressive accumulation of abnormal fibrillar protein aggregates manifesting clinically in the anterior chamber of the eye. This disorder is the most commonly known cause of glaucoma and a major cause of irreversible blindness.<h4>Objective</h4>To determine if exfoliation syndrome is associated with rare, protein-changing variants predicted to impair protein function.<h4>Design, setting, and participants</h4>A 2-stage, case-control, whole-exome sequencing association study with a discovery cohort and 2 independently ascertained validation cohorts. Study participants from 14 countries were enrolled between February 1999 and December 2019. The date of last clinical follow-up was December 2019. Affected individua"],"journal":["JAMA"],"pubmed_title":["Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye."],"pmcid":["PMC7903258"],"funding_grant_id":["R01 EY020928","U01 CA167552","R01 EY015473","P30 EY014104","UM1 CA186107"],"pubmed_authors":["Hellerbrand C","Ozaki M","Sugimoto T","Tashiro K","Chen XY","Anastasopoulos E","Keskini C","Zarnowski T","Davila S","Nongpiur ME","Gaston D","Soo HM","Lee MC","Pappas T","Chan A","Higashide T","Cheong A","Inoue K","Miyata K","Hauser M","Inatani M","Reis A","Oguz C","Mikropoulos DG","Kiuchi Y","Chuman H","Foo JN","Atalay E","Pasquale LR","Chihara E","Popa-Cherecheanu A","Yoshida A","Kobakhidze N","Perera SA","Khor CC","Kosior-Jarecka E","Pasutto F","Nakano S","Coca-Prados M","Gonzalez-Iglesias H","Carmichael TR","Panagiotou ES","Nakano M","Batu B","Ohashi T","Rafuse P","Edward DP","Heegaard S","Akopov EL","Kang JH","Kinoshita S","Husain R","Genetics of Exfoliation Syndrome Partnership","Kubota T","Kazama S","Sugiyama K","Astakhov SY","Mizoguchi T","Saunders J","Aung T","Yildirim N","Ueno M","Tam WL","Kruse FE","Ho YS","Zenkel M","Chen S","Wang Z","Sakurai T","Manabe SI","Ikeda Y","Mossbock G","Konstas AGP","Ritch R","Garcia M","Chichua G","Giessl A","Lambropoulos A","Li Y","Li Z","Martinon-Torres F","Tan P","Igo RP","Orr A","Aihara M","Williams SEI","Mori Y","Nicolela M","Fernandez-Vega Cueto A","Ramsay M","Chatzikyriakidou A","Sotozono C","Cooke Bailey JN","Peh E","Fernandez-Vega Cueto L","Haines JL","Irkec M","Mori K","Tabagari S","Salas A","Meah WY","Aktas D","Mardin C","Tokumo K","Schlotzer-Schrehardt U","Topouzis F","Alvarez L","Dubina M","Sim KS","Lukasik U","Hayashi K","Shuba L","Ishiko S","Founti P","Tamcelik N","Wiggs JL","Ideta R","Kasim B","Astakhov YS"],"additional_accession":[]},"is_claimable":false,"name":"Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye.","description":"<h4>Importance</h4>Exfoliation syndrome is a systemic disorder characterized by progressive accumulation of abnormal fibrillar protein aggregates manifesting clinically in the anterior chamber of the eye. This disorder is the most commonly known cause of glaucoma and a major cause of irreversible blindness.<h4>Objective</h4>To determine if exfoliation syndrome is associated with rare, protein-changing variants predicted to impair protein function.<h4>Design, setting, and participants</h4>A 2-stage, case-control, whole-exome sequencing association study with a discovery cohort and 2 independently ascertained validation cohorts. Study participants from 14 countries were enrolled between February 1999 and December 2019. The date of last clinical follow-up was December 2019. Affected individua","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Feb","modification":"2026-05-01T11:35:17.864Z","creation":"2022-02-11T09:32:06.494Z"},"accession":"S-EPMC7903258","cross_references":{"pubmed":["33620406"],"doi":["10.1001/jama.2021.0507"]}}