dc.contributor.author | Hamel, Andrew R. |
dc.contributor.author | Yan, Wenjun |
dc.contributor.author | Rouhana, John M. |
dc.contributor.author | Monovarfeshani, Aboozar |
dc.contributor.author | Jiang, Xinyi |
dc.contributor.author | Mehta, Puja A. |
dc.contributor.author | Advani, Jayshree |
dc.contributor.author | Luo, Yuyang |
dc.contributor.author | Liang, Qingnan |
dc.contributor.author | Rajasundaram, Skanda |
dc.contributor.author | Shrivastava, Arushi |
dc.contributor.author | Duchinski, Katherine |
dc.contributor.author | Mantena, Sreekar |
dc.contributor.author | Wang, Jiali |
dc.contributor.author | van Zyl, Tavé |
dc.contributor.author | Pasquale, Louis R. |
dc.contributor.author | Swaroop, Anand |
dc.contributor.author | Gharahkhani, Puya |
dc.contributor.author | Khawaja, Anthony P. |
dc.contributor.author | MacGregor, Stuart |
dc.contributor.author | Hewitt, Alex W. |
dc.contributor.author | Schuster, Alexander K. |
dc.contributor.author | Viswanathan, Ananth C. |
dc.contributor.author | Lotery, Andrew J. |
dc.contributor.author | Cree, Angela J. |
dc.contributor.author | Pang, Calvin P. |
dc.contributor.author | Brandl, Caroline |
dc.contributor.author | Klaver, Caroline C.W. |
dc.contributor.author | Hayward, Caroline |
dc.contributor.author | Khor, Chiea Chuen |
dc.contributor.author | Cheng, Ching Yu |
dc.contributor.author | Hammond, Christopher J. |
dc.contributor.author | van Duijn, Cornelia |
dc.contributor.author | Mackey, David A. |
dc.contributor.author | Stefansson, Einer |
dc.contributor.author | Vithana, Eranga N. |
dc.contributor.author | Pasutto, Francesca |
dc.contributor.author | Jonansson, Fridbert |
dc.contributor.author | Thorleifsson, Gudmar |
dc.contributor.author | Koh, Jacyline |
dc.contributor.author | Wilson, James F. |
dc.contributor.author | Craig, Jamie E. |
dc.contributor.author | Vergroesen, Joëlle E. |
dc.contributor.author | Fingert, John H. |
dc.contributor.author | Jonas, Jost B. |
dc.contributor.author | Stefánsson, Kári |
dc.contributor.author | Burdon, Kathryn P. |
dc.contributor.author | Chen, Li Jia |
dc.contributor.author | Kass, Michael |
dc.contributor.author | Jansonius, Nomdo M. |
dc.contributor.author | Pfeiffer, Norbert |
dc.contributor.author | Polašek, Ozren |
dc.contributor.author | Foster, Paul J. |
dc.contributor.author | Mitchell, Paul |
dc.contributor.author | Hysi, Pirro G. |
dc.contributor.author | Wojciechowski, Robert |
dc.contributor.author | Driessen, Sjoerd J. |
dc.contributor.author | Tompson, Stuart W.J. |
dc.contributor.author | Young, Terri L. |
dc.contributor.author | Wong, Tien Y. |
dc.contributor.author | Aung, Tin |
dc.contributor.author | Thorsteinsdottir, Unnur |
dc.contributor.author | de Vries, Victor A. |
dc.contributor.author | Ramdas, Wishal D. |
dc.contributor.author | Wang, Ya Xing |
dc.contributor.author | Chen, Rui |
dc.contributor.author | Vitart, Veronique |
dc.contributor.author | Sanes, Joshua R. |
dc.contributor.author | Wiggs, Janey L. |
dc.contributor.author | Segrè, Ayellet V. |
dc.date.accessioned | 2024-04-13T01:05:54Z |
dc.date.available | 2024-04-13T01:05:54Z |
dc.date.issued | 2024-01-09 |
dc.identifier.citation | Hamel , A R , Yan , W , Rouhana , J M , Monovarfeshani , A , Jiang , X , Mehta , P A , Advani , J , Luo , Y , Liang , Q , Rajasundaram , S , Shrivastava , A , Duchinski , K , Mantena , S , Wang , J , van Zyl , T , Pasquale , L R , Swaroop , A , Gharahkhani , P , Khawaja , A P , MacGregor , S , Hewitt , A W , Schuster , A K , Viswanathan , A C , Lotery , A J , Cree , A J , Pang , C P , Brandl , C , Klaver , C C W , Hayward , C , Khor , C C , Cheng , C Y , Hammond , C J , van Duijn , C , Mackey , D A , Stefansson , E , Vithana , E N , Pasutto , F , Jonansson , F , Thorleifsson , G , Koh , J , Wilson , J F , Craig , J E , Vergroesen , J E , Fingert , J H , Jonas , J B , Stefánsson , K , Burdon , K P , Chen , L J , Kass , M , Jansonius , N M , Pfeiffer , N , Polašek , O , Foster , P J , Mitchell , P , Hysi , P G , Wojciechowski , R , Driessen , S J , Tompson , S W J , Young , T L , Wong , T Y , Aung , T , Thorsteinsdottir , U , de Vries , V A , Ramdas , W D , Wang , Y X , Chen , R , Vitart , V , Sanes , J R , Wiggs , J L & Segrè , A V 2024 , ' Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma ' , Nature Communications , vol. 15 , no. 1 , 396 , pp. 396 . https://doi.org/10.1038/s41467-023-44380-y |
dc.identifier.issn | 2041-1723 |
dc.identifier.other | 217576347 |
dc.identifier.other | 425a0e3c-d9a4-48e6-aba9-c63272ea92f2 |
dc.identifier.other | 85181652198 |
dc.identifier.other | 38195602 |
dc.identifier.other | unpaywall: 10.1038/s41467-023-44380-y |
dc.identifier.uri | https://hdl.handle.net/20.500.11815/4810 |
dc.description | © 2024. The Author(s). |
dc.description.abstract | Primary open-angle glaucoma (POAG), characterized by retinal ganglion cell death, is a leading cause of irreversible blindness worldwide. However, its molecular and cellular causes are not well understood. Elevated intraocular pressure (IOP) is a major risk factor, but many patients have normal IOP. Colocalization and Mendelian randomization analysis of >240 POAG and IOP genome-wide association study (GWAS) loci and overlapping expression and splicing quantitative trait loci (e/sQTLs) in 49 GTEx tissues and retina prioritizes causal genes for 60% of loci. These genes are enriched in pathways implicated in extracellular matrix organization, cell adhesion, and vascular development. Analysis of single-nucleus RNA-seq of glaucoma-relevant eye tissues reveals that the POAG and IOP colocalizing genes and genome-wide associations are enriched in specific cell types in the aqueous outflow pathways, retina, optic nerve head, peripapillary sclera, and choroid. This study nominates IOP-dependent and independent regulatory mechanisms, genes, and cell types that may contribute to POAG pathogenesis. |
dc.format.extent | 4869889 |
dc.format.extent | 396 |
dc.language.iso | en |
dc.relation.ispartofseries | Nature Communications; 15(1) |
dc.rights | info:eu-repo/semantics/openAccess |
dc.subject | Humans |
dc.subject | Genome-Wide Association Study |
dc.subject | Glaucoma, Open-Angle/genetics |
dc.subject | Gene Expression Regulation |
dc.subject | Causality |
dc.subject | Glaucoma/genetics |
dc.subject | General Chemistry |
dc.subject | General Biochemistry,Genetics and Molecular Biology |
dc.subject | General Physics and Astronomy |
dc.title | Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma |
dc.type | /dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article |
dc.description.version | Peer reviewed |
dc.identifier.doi | 10.1038/s41467-023-44380-y |
dc.relation.url | http://www.scopus.com/inward/record.url?scp=85181652198&partnerID=8YFLogxK |
dc.contributor.department | Faculty of Medicine |
dc.contributor.school | Health Sciences |