{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T14:16:46Z","timestamp":1776262606510,"version":"3.50.1"},"reference-count":47,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"4","license":[{"start":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T00:00:00Z","timestamp":1776211200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Trans. Vis. Sci. Tech."],"published-print":{"date-parts":[[2026,4,15]]},"DOI":"10.1167\/tvst.15.4.13","type":"journal-article","created":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T13:30:49Z","timestamp":1776259849000},"page":"13","source":"Crossref","is-referenced-by-count":0,"title":["Cross-Tissue Transcriptome-Wide Association Study and TWAS-FOCUS Fine-Mapping Reveal Novel Susceptibility Genes for Primary Open-Angle Glaucoma"],"prefix":"10.1167","volume":"15","author":[{"given":"Zheng","family":"Pan","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, The Second Xiangya Hospital of Central South University, Changsha, Hunan, People's Republic of China"},{"name":"Human Clinical Research Center of Ophthalmic Disease, The Second Xiangya Hospital of Central South University, Changsha, Hunan, People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ke","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, The Second Xiangya Hospital of Central South University, Changsha, Hunan, People's Republic of China"},{"name":"Human Clinical Research Center of Ophthalmic Disease, The Second Xiangya Hospital of Central South University, Changsha, Hunan, People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bing","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, The Second Xiangya Hospital of Central South University, Changsha, Hunan, People's Republic of China"},{"name":"Human Clinical Research Center of Ophthalmic Disease, The Second Xiangya Hospital of Central South University, Changsha, Hunan, People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuning","family":"Dong","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine, The Second Xiangya Hospital of Central South University, Changsha, Hunan, People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"27","reference":[{"issue":"5","key":"bib1","doi-asserted-by":"publisher","first-page":"e1002611","DOI":"10.1371\/journal.pgen.1002611","article-title":"Common genetic determinants of intraocular pressure and primary open-angle glaucoma","volume":"8","author":"van Koolwijk","year":"2012","journal-title":"PLoS Genet"},{"issue":"3","key":"bib2","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1136\/bjo.2005.081224","article-title":"The number of people with glaucoma worldwide in 2010 and 2020","volume":"90","author":"Quigley","year":"2006","journal-title":"Br J Ophthalmol"},{"issue":"4","key":"bib3","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1111\/j.1442-9071.2012.02773.x","article-title":"Definition of glaucoma: clinical and experimental concepts","volume":"40","author":"Casson","year":"2012","journal-title":"Clin Exp Ophthalmol"},{"issue":"2","key":"bib4","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/j.ogla.2023.08.003","article-title":"Six-year incidence and risk factors for primary open-angle glaucoma and ocular hypertension: the Singapore epidemiology of eye diseases study","volume":"7","author":"Thakur","year":"2024","journal-title":"Ophthalmol Glaucoma"},{"issue":"7","key":"bib5","doi-asserted-by":"publisher","first-page":"e217","DOI":"10.1016\/j.jfo.2020.05.002","article-title":"The trabecular meshwork: structure, function and clinical implications. A review of the literature","volume":"43","author":"Buffault","year":"2020","journal-title":"J Fr Ophtalmol"},{"key":"bib6","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1016\/j.exer.2014.07.014","article-title":"Extracellular matrix in the trabecular meshwork: intraocular pressure regulation and dysregulation in glaucoma","volume":"133","author":"Vranka","year":"2015","journal-title":"Exp Eye Res"},{"key":"bib7","doi-asserted-by":"publisher","first-page":"101217","DOI":"10.1016\/j.preteyeres.2023.101217","article-title":"Neurovascular dysfunction in glaucoma","volume":"97","author":"Alarcon-Martinez","year":"2023","journal-title":"Prog Retin Eye Res"},{"issue":"2","key":"bib8","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/S0014-4835(88)80079-4","article-title":"Inhibition and recovery of retrograde axoplasmic transport in rat optic nerve during and after elevated IOP in vivo","volume":"46","author":"Johansson","year":"1988","journal-title":"Exp Eye Res"},{"issue":"11","key":"bib9","first-page":"3460","article-title":"Retrograde axonal transport of BDNF in retinal ganglion cells is blocked by acute IOP elevation in rats","volume":"41","author":"Quigley","year":"2000","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"7","key":"bib10","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1007\/s12264-020-00490-x","article-title":"Altered energy metabolism during early optic nerve crush injury: implications of warburg-like aerobic glycolysis in facilitating retinal ganglion cell survival","volume":"36","author":"Zhu","year":"2020","journal-title":"Neurosci Bull"},{"issue":"1-2","key":"bib11","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1016\/j.ymgme.2005.07.034","article-title":"Optic atrophies in metabolic disorders","volume":"86","author":"Huizing","year":"2005","journal-title":"Mol Genet Metab"},{"key":"bib12","first-page":"483","article-title":"Differential DNA methylation patterns in human Schlemm's canal endothelial cells with glaucoma","volume":"26","author":"Cai","year":"2020","journal-title":"Mol Vis"},{"issue":"5300","key":"bib13","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1126\/science.275.5300.668","article-title":"Identification of a gene that causes primary open angle glaucoma","volume":"275","author":"Stone","year":"1997","journal-title":"Science"},{"issue":"5","key":"bib14","doi-asserted-by":"publisher","first-page":"e1004372","DOI":"10.1371\/journal.pgen.1004372","article-title":"Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma","volume":"10","author":"Carnes","year":"2014","journal-title":"PLoS Genet"},{"issue":"7","key":"bib15","doi-asserted-by":"publisher","first-page":"e0132529","DOI":"10.1371\/journal.pone.0132529","article-title":"Exome sequencing identifies a missense variant in EFEMP1 co-segregating in a family with autosomal dominant primary open-angle glaucoma","volume":"10","author":"Mackay","year":"2015","journal-title":"PLoS One"},{"issue":"1","key":"bib16","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.cytogfr.2004.11.002","article-title":"Dual role for TGF-beta1 in apoptosis","volume":"16","author":"S\u00e1nchez-Capelo","year":"2005","journal-title":"Cytokine Growth Factor Rev"},{"issue":"8","key":"bib17","doi-asserted-by":"publisher","first-page":"e0254873","DOI":"10.1371\/journal.pone.0254873","article-title":"Repression of Smad4 by MicroRNA-1285 moderates TGF-\u00df-induced epithelial-mesenchymal transition in proliferative vitreoretinopathy","volume":"16","author":"Pao","year":"2021","journal-title":"PLoS One"},{"issue":"2","key":"bib18","doi-asserted-by":"publisher","first-page":"e002529","DOI":"10.1136\/rmdopen-2022-002529","article-title":"Novel insight into the aetiology of rheumatoid arthritis gained by a cross-tissue transcriptome-wide association study","volume":"8","author":"Ni","year":"2022","journal-title":"RMD Open"},{"issue":"1","key":"bib19","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1186\/s10194-024-01802-6","article-title":"A cross-tissue transcriptome-wide association study reveals novel susceptibility genes for migraine","volume":"25","author":"Gui","year":"2024","journal-title":"J Headache Pain"},{"issue":"1","key":"bib20","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1038\/s41398-021-01378-8","article-title":"UTMOST, a single and cross-tissue TWAS (transcriptome wide association study), reveals new ASD (autism spectrum disorder) associated genes","volume":"11","author":"Rodriguez-Fontenla","year":"2021","journal-title":"Transl Psychiatry"},{"issue":"3","key":"bib21","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1038\/ng.3506","article-title":"Integrative approaches for large-scale transcriptome-wide association studies","volume":"48","author":"Gusev","year":"2016","journal-title":"Nat Genet"},{"issue":"1","key":"bib22","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1186\/s10194-023-01649-3","article-title":"Identifying causal genes for migraine by integrating the proteome and transcriptome","volume":"24","author":"Li","year":"2023","journal-title":"J Headache Pain"},{"issue":"4","key":"bib23","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1038\/s41588-019-0367-1","article-title":"Probabilistic fine-mapping of transcriptome-wide association studies","volume":"51","author":"Mancuso","year":"2019","journal-title":"Nat Genet"},{"issue":"1","key":"bib24","doi-asserted-by":"publisher","first-page":"1258","DOI":"10.1038\/s41467-020-20851-4","article-title":"Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries","volume":"12","author":"Gharahkhani","year":"2021","journal-title":"Nat Commun"},{"issue":"3","key":"bib25","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1038\/s41588-019-0345-7","article-title":"A statistical framework for cross-tissue transcriptome-wide association analysis","volume":"51","author":"Hu","year":"2019","journal-title":"Nat Genet"},{"issue":"1","key":"bib26","doi-asserted-by":"publisher","first-page":"4450","DOI":"10.1038\/s41467-019-12450-9","article-title":"Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes","volume":"10","author":"Liao","year":"2019","journal-title":"Nat Commun"},{"issue":"4","key":"bib27","doi-asserted-by":"publisher","first-page":"e1004219","DOI":"10.1371\/journal.pcbi.1004219","article-title":"MAGMA: generalized gene-set analysis of GWAS data","volume":"11","author":"de Leeuw","year":"2015","journal-title":"PLoS Comput Biol"},{"issue":"5","key":"bib28","doi-asserted-by":"publisher","first-page":"e1004383","DOI":"10.1371\/journal.pgen.1004383","article-title":"Bayesian test for colocalisation between pairs of genetic association studies using summary statistics","volume":"10","author":"Giambartolomei","year":"2014","journal-title":"PLoS Genet"},{"key":"bib29","doi-asserted-by":"publisher","first-page":"1114174","DOI":"10.3389\/fgene.2023.1114174","article-title":"A cross-tissue transcriptome association study identifies key genes in essential hypertension","volume":"14","author":"Huang","year":"2023","journal-title":"Front Genet"},{"issue":"17","key":"bib30","doi-asserted-by":"publisher","first-page":"1666","DOI":"10.1093\/hmg\/ddab119","article-title":"A cross-tissue transcriptome-wide association study identifies novel susceptibility genes for lung cancer in Chinese populations","volume":"30","author":"Zhu","year":"2021","journal-title":"Hum Mol Genet"},{"issue":"1","key":"bib31","doi-asserted-by":"publisher","first-page":"5769","DOI":"10.1038\/s41467-024-49924-4","article-title":"Partitioning and aggregating cross-tissue and tissue-specific genetic effects to identify gene-trait associations","volume":"15","author":"Song","year":"2024","journal-title":"Nat Commun"},{"issue":"5","key":"bib32","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1038\/ng.3538","article-title":"Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets","volume":"48","author":"Zhu","year":"2016","journal-title":"Nat Genet"},{"issue":"5557","key":"bib33","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.1126\/science.1066901","article-title":"Adult-onset primary open-angle glaucoma caused by mutations in optineurin","volume":"295","author":"Rezaie","year":"2002","journal-title":"Science"},{"issue":"8","key":"bib34","doi-asserted-by":"publisher","first-page":"2816","DOI":"10.1167\/iovs.04-1133","article-title":"Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene","volume":"46","author":"Aung","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"5","key":"bib35","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1097\/01.ijg.0000212255.17950.42","article-title":"Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States","volume":"15","author":"Hauser","year":"2006","journal-title":"J Glaucoma"},{"issue":"10","key":"bib36","doi-asserted-by":"publisher","first-page":"1115","DOI":"10.1038\/ng.3078","article-title":"Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma","volume":"46","author":"Chen","year":"2014","journal-title":"Nat Genet"},{"issue":"8","key":"bib37","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1038\/s41576-019-0127-1","article-title":"Benefits and limitations of genome-wide association studies","volume":"20","author":"Tam","year":"2019","journal-title":"Nat Rev Genet"},{"key":"bib38","doi-asserted-by":"publisher","first-page":"367","DOI":"10.2147\/JIR.S497525","article-title":"Potential functions and causal associations of GNLY in primary open-angle glaucoma: integration of blood-derived proteome, transcriptome, and experimental verification","volume":"18","author":"Wang","year":"2025","journal-title":"J Inflamm Res"},{"issue":"1","key":"bib39","doi-asserted-by":"publisher","first-page":"2108","DOI":"10.1038\/s41467-017-01913-6","article-title":"A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure","volume":"8","author":"Choquet","year":"2017","journal-title":"Nat Commun"},{"issue":"15","key":"bib40","doi-asserted-by":"publisher","first-page":"1097","DOI":"10.1056\/NEJM199304153281507","article-title":"Open-angle glaucoma","volume":"328","author":"Quigley","year":"1993","journal-title":"N Engl J Med"},{"issue":"Suppl1","key":"bib41","doi-asserted-by":"crossref","first-page":"S97","DOI":"10.4103\/0301-4738.73695","article-title":"Normal-tension glaucoma (low-tension glaucoma)","volume":"59","author":"Anderson","year":"2011","journal-title":"Indian J Ophthalmol"},{"issue":"16","key":"bib42","doi-asserted-by":"publisher","first-page":"2441","DOI":"10.1038\/onc.2009.515","article-title":"Formin-like 2 drives amoeboid invasive cell motility downstream of RhoC","volume":"29","author":"Kitzing","year":"2010","journal-title":"Oncogene"},{"issue":"7","key":"bib43","doi-asserted-by":"publisher","first-page":"2311","DOI":"10.1091\/mbc.e01-12-0148","article-title":"PC phosphorylation increases the ability of AFAP-110 to cross-link actin filaments","volume":"13","author":"Qian","year":"2002","journal-title":"Mol Biol Cell"},{"issue":"1","key":"bib44","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1006\/excr.1999.4795","article-title":"The carboxy terminus of AFAP-110 modulates direct interactions with actin filaments and regulates its ability to alter actin filament integrity and induce lamellipodia formation","volume":"255","author":"Qian","year":"2000","journal-title":"Exp Cell Res"},{"issue":"R1","key":"bib45","doi-asserted-by":"publisher","first-page":"R21","DOI":"10.1093\/hmg\/ddx184","article-title":"Genetics of glaucoma","volume":"26","author":"Wiggs","year":"2017","journal-title":"Hum Mol Genet"},{"issue":"2","key":"bib46","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1001\/jamacardio.2024.3738","article-title":"Distinct genetic risk profile in aortic stenosis compared with coronary artery disease","volume":"10","author":"Trenkwalder","year":"2025","journal-title":"JAMA Cardiol"},{"issue":"1","key":"bib47","doi-asserted-by":"publisher","first-page":"2407","DOI":"10.1038\/s41467-024-46639-4","article-title":"Integrative genomic analyses identify candidate causal genes for calcific aortic valve stenosis involving tissue-specific regulation","volume":"15","author":"Th\u00e9riault","year":"2024","journal-title":"Nat Commun"}],"container-title":["Translational Vision Science &amp; Technology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/tvst.arvojournals.org\/article.aspx?doi=10.1167\/tvst.15.4.13","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T13:30:50Z","timestamp":1776259850000},"score":1,"resource":{"primary":{"URL":"http:\/\/tvst.arvojournals.org\/article.aspx?doi=10.1167\/tvst.15.4.13"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,15]]},"references-count":47,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,4,6]]}},"URL":"https:\/\/doi.org\/10.1167\/tvst.15.4.13","relation":{},"ISSN":["2164-2591"],"issn-type":[{"value":"2164-2591","type":"print"}],"subject":[],"published":{"date-parts":[[2026,4,15]]}}}