Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
Autor: | Gharahkhani, Puya, Jorgenson, Eric, Hysi, Pirro, Khawaja, Anthony P, Pendergrass, Sarah, Han, Xikun, Ong, Jue Sheng, Hewitt, Alex W, Segrè, Ayellet V, Rouhana, John M, Hamel, Andrew R, Igo, Robert P, Choquet, Helene, Qassim, Ayub, Josyula, Navya S, Cooke Bailey, Jessica N, Bonnemaijer, Pieter WM, Iglesias, Adriana, Siggs, Owen M, Young, Terri L, Vitart, Veronique, Thiadens, Alberta AHJ, Karjalainen, Juha, Uebe, Steffen, Melles, Ronald B, Nair, K Saidas, Luben, Robert, Simcoe, Mark, Amersinghe, Nishani, Cree, Angela J, Hohn, Rene, Poplawski, Alicia, Chen, Li Jia, Rong, Shi-Song, Aung, Tin, Vithana, Eranga Nishanthie, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Tamiya, Gen, Shiga, Yukihiro, Yamamoto, Masayuki, Nakazawa, Toru, Currant, Hannah, Birney, Ewan, Wang, Xin, Auton, Adam, Lupton, Michelle K, Martin, Nicholas G, Ashaye, Adeyinka, Olawoye, Olusola, Williams, Susan E, Akafo, Stephen, Ramsay, Michele, Hashimoto, Kazuki, Kamatani, Yoichiro, Akiyama, Masato, Momozawa, Yukihide, Foster, Paul J, Khaw, Peng T, Morgan, James E, Strouthidis, Nicholas G, Kraft, Peter, Kang, Jae H, Pang, Chi Pui, Pasutto, Francesca, Mitchell, Paul, Lotery, Andrew J, Palotie, Aarno, van Duijn, Cornelia, Haines, Jonathan L, Hammond, Chris, Pasquale, Louis R, Klaver, Caroline CW, Hauser, Michael, Khor, Chiea Chuen, Mackey, David A, Kubo, Michiaki, Cheng, Ching-Yu, Craig, Jamie E, MacGregor, Stuart, Wiggs, Janey L |
---|---|
Přispěvatelé: | Epidemiology, Ophthalmology, Clinical Genetics, Gharahkhani, Puya [0000-0002-4203-5952], Jorgenson, Eric [0000-0002-5829-8191], Hysi, Pirro [0000-0001-5752-2510], Khawaja, Anthony P [0000-0001-6802-8585], Han, Xikun [0000-0002-3823-7308], Ong, Jue Sheng [0000-0002-6062-710X], Hewitt, Alex W [0000-0002-5123-5999], Rouhana, John M [0000-0002-8599-0271], Igo, Robert P [0000-0002-0024-1993], Choquet, Helene [0000-0001-9839-8667], Josyula, Navya S [0000-0003-2782-8812], Cooke Bailey, Jessica N [0000-0002-4001-8702], Bonnemaijer, Pieter WM [0000-0001-5154-6765], Iglesias, Adriana [0000-0001-5532-764X], Siggs, Owen M [0000-0003-2840-4851], Young, Terri L [0000-0001-6994-9941], Vitart, Veronique [0000-0002-4991-3797], Thiadens, Alberta AHJ [0000-0002-4911-9462], Luben, Robert [0000-0002-5088-6343], Simcoe, Mark [0000-0003-2432-0810], Cree, Angela J [0000-0002-1987-8900], Poplawski, Alicia [0000-0003-2527-0763], Rong, Shi-Song [0000-0001-8352-6363], Vithana, Eranga Nishanthie [0000-0002-8898-0095], Yamamoto, Masayuki [0000-0002-9073-9436], Currant, Hannah [0000-0003-2764-6787], Birney, Ewan [0000-0001-8314-8497], Wang, Xin [0000-0001-7242-357X], Martin, Nicholas G [0000-0003-4069-8020], Olawoye, Olusola [0000-0003-2357-8924], Williams, Susan E [0000-0002-4479-8638], Ramsay, Michele [0000-0002-4156-4801], Kamatani, Yoichiro [0000-0001-8748-5597], Foster, Paul J [0000-0002-4755-177X], Khaw, Peng T [0000-0002-8087-2268], Kraft, Peter [0000-0002-4472-8103], Kang, Jae H [0000-0003-4812-0557], Pasutto, Francesca [0000-0002-0026-5362], Lotery, Andrew J [0000-0001-5541-4305], Haines, Jonathan L [0000-0002-4351-4728], Hammond, Chris [0000-0002-3227-2620], Pasquale, Louis R [0000-0002-5835-3496], Klaver, Caroline CW [0000-0002-2355-5258], Khor, Chiea Chuen [0000-0002-1128-4729], Cheng, Ching-Yu [0000-0003-0655-885X], MacGregor, Stuart [0000-0001-6731-8142], Wiggs, Janey L [0000-0003-1890-3278], Apollo - University of Cambridge Repository, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, University of Helsinki, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, HUSLAB, HUS Helsinki and Uusimaa Hospital District, APH - Mental Health, APH - Methodology, Amsterdam Neuroscience - Neuroinfection & -inflammation |
Jazyk: | angličtina |
Rok vydání: | 2021 |
Předmět: |
0301 basic medicine
Aging genetic structures General Physics and Astronomy Glaucoma PROTEIN Genome-wide association study Neurodegenerative Genome ANNOTATION Genome-wide association studies Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] 0302 clinical medicine Polymorphism (computer science) Genotype 2.1 Biological and endogenous factors ANZRAG consortium Aetiology GENE-EXPRESSION Genetics HUMAN-DISEASES RISK Multidisciplinary and Me Research Team Single Nucleotide ASSOCIATION GIGA study group Biobank Japan project 3. Good health PREVALENCE Open-Angle Meta-analysis NEIGHBORHOOD consortium Optic nerve diseases Glaucoma Open-Angle Asian Continental Ancestry Group Open angle glaucoma Science European Continental Ancestry Group FinnGen study Biology GENOTYPE IMPUTATION Polymorphism Single Nucleotide General Biochemistry Genetics and Molecular Biology UK Biobank Eye and Vision Consortium Article White People 03 medical and health sciences Asian People medicine Humans Genetic Predisposition to Disease 3125 Otorhinolaryngology ophthalmology Polymorphism Eye Disease and Disorders of Vision Genetic association MUTATIONS Human Genome General Chemistry medicine.disease eye diseases 030104 developmental biology Genetic Loci DIFFERENTIAL EXPRESSION ANALYSIS 030221 ophthalmology & optometry sense organs Genome-Wide Association Study |
Zdroj: | Nature Communications, 12(1):1258. Nature Publishing Group NEIGHBORHOOD Consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group & 23 and Me Research Team 2021, ' Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries ', Nature Communications, vol. 12, no. 1, 1258 . https://doi.org/10.1038/s41467-020-20851-4 Nature Communications Nature communications, vol 12, iss 1 Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021) Nature Communications, 12 Nature Communications, 12, 1 |
ISSN: | 2041-1723 |
Popis: | Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 previously unreported risk loci and confirming 83 loci that were previously known. The majority of loci have broadly consistent effects across European, Asian and African ancestries. Cross-ancestry data improve fine-mapping of causal variants for several loci. Integration of multiple lines of genetic evidence support the functional relevance of the identified POAG risk loci and highlight potential contributions of several genes to POAG pathogenesis, including SVEP1, RERE, VCAM1, ZNF638, CLIC5, SLC2A12, YAP1, MXRA5, and SMAD6. Several drug compounds targeting POAG risk genes may be potential glaucoma therapeutic candidates. Primary open-angle glaucoma (POAG) is highly heritable, yet not well understood from a genetic perspective. Here, the authors perform a meta-analysis of genome-wide association studies in 34,179 POAG cases, identifying 44 previously unreported risk loci and mapping effects across multiple ethnicities. |
Databáze: | OpenAIRE |
Externí odkaz: |