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Your search keyword '"Lotery, Andrew J [0000-0001-5541-4305]"' showing total 2 results
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2 results on '"Lotery, Andrew J [0000-0001-5541-4305]"'

1. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Author

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, 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, and Amsterdam Neuroscience - Neuroinfection & -inflammation

Subjects
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
Abstract

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.

Published
2021
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2. Multi-trait genome-wide association study identifies new loci associated with optic disc parameters

Author

Bonnemaijer, Pieter WM, van Leeuwen, Elisabeth M, Iglesias, Adriana I, Gharahkhani, Puya, Vitart, Veronique, Khawaja, Anthony P, Simcoe, Mark, Hoehn, Rene, Cree, Angela J, Igo, Rob P, Burdon, Kathryn P, Craig, Jamie E, Hewitt, Alex W, Jonas, Jost, Khor, Chiea-Cheun, Pasutto, Francesca, Mackey, David A, Mitchell, Paul, Mishra, Aniket, Pang, Calvin, Pasquale, Louis R, Springelkamp, Henriette, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Viswanathan, Ananth C, Wojciechowski, Robert, Wong, Tien, Young, Terrri L, Zeller, Tanja, Atan, Denize, Aslam, Tariq, Barman, Sarah A, Barrett, Jenny H, Bishop, Paul, Blows, Peter, Bunce, Catey, Carare, Roxana O, Chakravarthy, Usha, Chan, Michelle, Chua, Sharon YL, Crabb, David P, Cumberland, Philippa M, Day, Alexander, Desai, Parul, Dhillon, Bal, Dick, Andrew D, Egan, Cathy, Ennis, Sarah, Foster, Paul, Fruttiger, Marcus, Gallacher, John EJ, Garway, David F, Gibson, Jane, Gore, Dan, Guggenheim, Jeremy A, Hardcastle, Alison, Harding, Simon P, Hogg, Ruth E, Keane, Pearse A, Khaw, Peng T, Lascaratos, Gerassimos, Macgillivray, Tom, Mackie, Sarah, Martin, Keith, McGaughey, Michelle, McGuinness, Bernadette, Mckay, Gareth J, McKibbin, Martin, Mitry, Danny, Moore, Tony, Morgan, James E, Muthy, Zaynah A, O'Sullivan, Eoin, Owen, Chris G, Patel, Praveen, Paterson, Euan, Peto, Tunde, Petzold, Axel, Rahi, Jugnoo S, Rudnikca, Alicja R, Self, Jay, Sivaprasad, Sobha, Steel, David, Stratton, Irene, Strouthidis, Nicholas, Sudlow, Cathie, Thomas, Dhanes, Trucco, Emanuele, Tufail, Adnan, Vernon, Stephen A, Williams, Cathy, Williams, Katie, Woodside, Jayne V, Yates, Max M, Yip, Jennifer, Zheng, Yalin, Allingham, Rand, Budenz, Don, Bailey, Jessica Cooke, Fingert, John, Gaasterland, Douglas, Gaasterland, Teresa, Haines, Jonathan L, Hark, Lisa, Hauser, Michael, Kang, Jae Hee, Kraft, Peter, Lee, Richard, Lichter, Paul, Liu, Yutao, Moroi, Syoko, Pericak, Margaret, Realini, Anthony, Rhee, Doug, Richards, Julia R, Ritch, Robert, Scott, William K, Singh, Kuldev, Sit, Arthur, Vollrath, Douglas, Weinreb, Robert, Wollstein, Gadi, Wilmer, Don Zack, Gerhold-Ay, Aslihan, Nickels, Stefan, Wilson, James F, Hayward, Caroline, Boutin, Thibaud S, Polasek, Ozren, Aung, Tin, Khor, Chiea Chuen, Amin, Najaf, Lotery, Andrew J, Wiggs, Janey L, Cheng, Ching-Yu, Hysi, Pirro G, Hammond, Christopher J, Thiadens, Alberta AHJ, MacGregor, Stuart, Klaver, Caroline CW, van Duijn, Cornelia M, Consortium, Int Glaucoma Genetics, Consortium, Uk Biobank Eye Vision, Consortium, NEIGHBORHOOD, Epidemiology, Ophthalmology, Clinical Genetics, Bonnemaijer, Pieter WM [0000-0001-5154-6765], Iglesias, Adriana I [0000-0001-5532-764X], Gharahkhani, Puya [0000-0002-4203-5952], Vitart, Veronique [0000-0002-4991-3797], Khawaja, Anthony P [0000-0001-6802-8585], Simcoe, Mark [0000-0003-2432-0810], Nickels, Stefan [0000-0003-0415-2354], Wilson, James F [0000-0001-5751-9178], Hayward, Caroline [0000-0002-9405-9550], Boutin, Thibaud S [0000-0003-4754-1675], Khor, Chiea Chuen [0000-0002-1128-4729], Lotery, Andrew J [0000-0001-5541-4305], Wiggs, Janey L [0000-0003-1890-3278], Cheng, Ching-Yu [0000-0003-0655-885X], Hysi, Pirro G [0000-0001-5752-2510], Hammond, Christopher J [0000-0002-3227-2620], MacGregor, Stuart [0000-0001-6731-8142], Klaver, Caroline CW [0000-0002-2355-5258], and Apollo - University of Cambridge Repository

Subjects
genetic structures, Optic disk, Medicine (miscellaneous), Genome-wide association study, Neurodegenerative, Genome-wide association studies, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 0302 clinical medicine, Optic Nerve Diseases, 2.1 Biological and endogenous factors, Aetiology, 610 Medicine & health, lcsh:QH301-705.5, 0303 health sciences, Agricultural and Biological Sciences(all), Single Nucleotide, medicine.anatomical_structure, NEIGHBORHOOD consortium, General Agricultural and Biological Sciences, Optic disc, Signal Transduction, Optic Disk, Quantitative Trait Loci, International Glaucoma Genetics Consortium, Quantitative trait locus, Biology, Genetic correlation, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Article, UK Biobank Eye and Vision Consortium, 03 medical and health sciences, Quantitative Trait, Quantitative Trait, Heritable, medicine, Genetics, Humans, Genetic Predisposition to Disease, 1000 Genomes Project, Polymorphism, Heritable, Eye Disease and Disorders of Vision, Genetic Association Studies, 030304 developmental biology, Genetic association, CENTRAL CORNEAL THICKNESS, METAANALYSIS, GLAUCOMA, EXPRESSION, HERITABILITY, PREVALENCE, STATISTICS, PANEL, Biochemistry, Genetics and Molecular Biology(all), Gene Expression Profiling, Haplotype, Human Genome, Computational Biology, Glaucoma, Molecular Sequence Annotation, eye diseases, lcsh:Biology (General), Evolutionary biology, Case-Control Studies, RE, sense organs, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

A new avenue of mining published genome-wide association studies includes the joint analysis of related traits. The power of this approach depends on the genetic correlation of traits, which reflects the number of pleiotropic loci, i.e. genetic loci influencing multiple traits. Here, we applied new meta-analyses of optic nerve head (ONH) related traits implicated in primary open-angle glaucoma (POAG); intraocular pressure and central corneal thickness using Haplotype reference consortium imputations. We performed a multi-trait analysis of ONH parameters cup area, disc area and vertical cup-disc ratio. We uncover new variants; rs11158547 in PPP1R36-PLEKHG3 and rs1028727 near SERPINE3 at genome-wide significance that replicate in independent Asian cohorts imputed to 1000 Genomes. At this point, validation of these variants in POAG cohorts is hampered by the high degree of heterogeneity. Our results show that multi-trait analysis is a valid approach to identify novel pleiotropic variants for ONH., The International Glaucoma Genetics Consortium reports a genome-wide association study meta-analysis of optic disc parameters relevant to primary open-angle glaucoma. They identify two novel variants in PPP1R36-PLEKHG3 and SERPINE3 by multi-trait analysis in European-ancestry cohorts that were replicated in independent Asian cohorts.

Published
2019
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