{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Liuska PJ"],"funding":["Cancer Foundation Finland sr"],"pagination":["762-768"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8176385"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["139(7)"],"pubmed_abstract":["<h4>Importance</h4>The c.1102C>T, p.(Gln368Ter) variant in the myocilin (MYOC) gene is a known risk allele for glaucoma. It is the most common MYOC risk variant for glaucoma among individuals of European ancestry, and its prevalence is highest in Finland. Furthermore, exfoliation syndrome has high prevalence in Scandinavia, making the Finnish population ideal to study the association of the variant with different types of glaucoma.<h4>Objectives</h4>To examine the association and penetrance of MYOC p.(Gln368Ter) (rs74315329) variant with different types of glaucoma in a Finnish population.<h4>Design, setting, and participants</h4>This genetic association study included individuals of Finnish ancestry in the FinnGen project. The participants were collected from Finnish biobanks, and the dis"],"journal":["JAMA ophthalmology"],"pubmed_title":["Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population."],"pmcid":["PMC8176385"],"funding_grant_id":["180136"],"pubmed_authors":["Lahteenmaki S","Kaprio J","Biswas S","Hu X","Harju T","Hunkapiller J","Smaoui N","John S","Blomster T","Arvas M","Harju J","Soini S","Pihlajamaki J","Bing N","Laaksonen R","Laitinen T","Bowers N","Ziemann A","Meretoja T","Brein G","Chhibber A","Xu F","Gracia Tabuenca J","Xu E","Joensuu H","Usiskin K","Siirtola H","Soininen H","Tuomi T","Ollila T","Karihtala P","Miller M","Daly MJ","Ehm M","Ripatti S","Sipila T","Turunen JA","Auge F","Donner K","Quarless D","Reilly D","Schleutker J","Hiekkalinna T","Kettunen J","Wong R","Uusitalo-Jarvinen H","Ganna A","Greenberg S","Hochfeld M","Ghosh S","Kristiansson K","Havulinna AS","Elenius K","Popovic R","Loukola A","Perola M","Jarvensivu E","Kaarteenaho R","Remes A","Waring J","Hedman A","Kilpelainen E","Palin K","Parkkinen J","Chen CY","Crohns M","Betts J","Mehta V","Chen X","Kauppila S","Jacob H","Pelkonen M","Kulkarni D","Wade Davis J","Gonzalez Jimenez M","Gormley P","Kahonen M","Chen H","Tienari P","Tasanen K","Wahlfors T","Esmaeeli S","Auvinen P","Kuopio T","Rinne J","Teng E","Kaarniranta K","Kujala U","Loboda A","Podgornaia A","Virolainen P","Liu J","Plenge R","Challis B","Rivas M","Harvima I","Pylkas K","FinnGen Consortium","Klinger K","Mannikko L","Schutzman J","Uusitalo H","Diogo D","Mantere T","Palomaki A","Strauss E","Della Briotta Parolo P","Hoffman J","Parn K","Sipila TP","Kallio L","Michon J","van Adelsberg J","Dada A","Call K","Sinisalo J","Mannermaa A","Julkunen V","Kangasniemi E","Farkkila M","Matakidou A","Lemmela S","Pulford D","Kerchner G","Palotie A","Sistonen T","Mars N","Laivuori H","Fox C","Huilaja L","Laakkonen E","Kalpala K","Close D","McCarthy L","Peterson A","Lyhs U","Partanen J","Lertratanakul A","Aaltonen L","Laiho P","Makela T","Laukkanen M","Juonala M","Laukkanen J","Seitsonen S","Laakso M","Pirila L","Isomaki P","Jussila A","Vainio S","Runz H","Salomaa V","Nunez-Fontarnau J","Aaltonen V","Karlsson A","Chu A","Bhangale T","Chang D","Maranville J","Kalaoja M","Kilpi T","McDonough S","Kaunisto M","Huhtakangas J","Karjalainen M","Jalanko A","Karjalainen J","Pitkaranta A","Zhou W","Eklund K","Malarstig A","Peltonen S","Chatelain C","Kosma VM","Junttila J","Kankaanranta H","Wang C","Hautala N","Holzinger E","Peltola J","Linden K","Pikkarainen S","Rahimov F","Paloneva J","Llorens V","Pulkki K","Kononen J","Niiranen T","Metsarinne K","Pitkanen K","Wang X","Wu Y","Eaton S","Kurki M","Ritari J","Heap G","Taskinen MR","Heikkinen S","Voutilainen M","Bronson P","Riley-Gillis B","Hiltunen M","Kiiskinen T","Eicher J","Luodonpaa M","Lu T","Hannula-Jouppi K","Petrovski S","Yang R","Georgantas B","Kauppi P","Auranen A","Lehtonen A","Lahdenpera S","Choy D","Lehisto A","Shcherban A","Myllyharju J","Lehtonen H","Savinainen K","Carpen O","Hyvarinen K","Liuska PJ","Waterworth D","Salmi T","Kaipiainen-Seppanen O","Kiviniemi M","Kaiharju E","Kalviainen R","Koulu L","Marshall C","Koskinen M","Whelan C","Kajanne R","Esparza Gordillo J","Muslin A","Oh D","Palta P","Mattsson H"],"additional_accession":[]},"is_claimable":false,"name":"Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population.","description":"<h4>Importance</h4>The c.1102C>T, p.(Gln368Ter) variant in the myocilin (MYOC) gene is a known risk allele for glaucoma. It is the most common MYOC risk variant for glaucoma among individuals of European ancestry, and its prevalence is highest in Finland. Furthermore, exfoliation syndrome has high prevalence in Scandinavia, making the Finnish population ideal to study the association of the variant with different types of glaucoma.<h4>Objectives</h4>To examine the association and penetrance of MYOC p.(Gln368Ter) (rs74315329) variant with different types of glaucoma in a Finnish population.<h4>Design, setting, and participants</h4>This genetic association study included individuals of Finnish ancestry in the FinnGen project. The participants were collected from Finnish biobanks, and the dis","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Jul","modification":"2026-05-09T09:30:24.815Z","creation":"2024-11-13T05:15:30.726Z"},"accession":"S-EPMC8176385","cross_references":{"pubmed":["34081096"],"doi":["10.1001/jamaophthalmol.2021.1610"]}}