Deep Learning-Based Identification of Intraocular Pressure-Associated Genes Influencing Trabecular Meshwork Cell Morphology

Autor: Connor J. Greatbatch, MBBS, Qinyi Lu, MD, PhD, Sandy Hung, PhD, Son N. Tran, PhD, Kristof Wing, MBBS, Helena Liang, MD, PhD, Xikun Han, PhD, Tiger Zhou, FRANZCO, PhD, Owen M. Siggs, MD, PhD, David A. Mackey, FRANZCO, MD, Guei-Sheung Liu, PhD, Anthony L. Cook, PhD, Joseph E. Powell, PhD, Jamie E. Craig, FRANZCO, DPhil, Stuart MacGregor, PhD, Alex W. Hewitt, FRANZCO, PhD

Publikováno v: Ophthalmology Science, Vol 4, Iss 4, Pp 100504- (2024)

Purpose: Genome-wide association studies have recently uncovered many loci associated with variation in intraocular pressure (IOP). Artificial intelligence (AI) can be used to interrogate the effect of specific genetic knockouts on the morphology of

Externí odkaz: https://doaj.org/article/abb1ee8966924ea990c570465f440c02

Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse

Autor: Mark M. Hassall, Shari Javadiyan, Sonja Klebe, Mona S. Awadalla, Shiwani Sharma, Ayub Qassim, Melissa White, Paul Q. Thomas, Jamie E. Craig, Owen M. Siggs

Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-7 (2023)

Abstract Nanophthalmos is characterised by shorter posterior and anterior segments of the eye, with a predisposition towards high hyperopia and primary angle-closure glaucoma. Variants in TMEM98 have been associated with autosomal dominant nanophthal

Externí odkaz: https://doaj.org/article/dedf43a25a65471f8f37c007e9ac77a2

Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma

Autor: Haojie Fu, Owen M. Siggs, Lachlan S.W. Knight, Sandra E. Staffieri, Jonathan B. Ruddle, Amy E. Birsner, Edward Ryan Collantes, Jamie E. Craig, Janey L. Wiggs, Robert J. D’Amato

Publikováno v: The Journal of Clinical Investigation, Vol 132, Iss 23 (2022)

Glaucoma is a highly heritable disease that is a leading cause of blindness worldwide. Here, we identified heterozygous thrombospondin 1 (THBS1) missense alleles altering p.Arg1034, a highly evolutionarily conserved amino acid, in 3 unrelated and eth

Externí odkaz: https://doaj.org/article/7d2f40e29d43463baef3b508b33e8c0b

Exome-based investigation of the genetic basis of human pigmentary glaucoma

Autor: Carly van der Heide, Wes Goar, Kacie J. Meyer, Wallace L. M. Alward, Erin A. Boese, Nathan C. Sears, Ben R. Roos, Young H. Kwon, Adam P. DeLuca, Owen M. Siggs, Claudia Gonzaga-Jauregui, Val C. Sheffield, Kai Wang, Edwin M. Stone, Robert F. Mullins, Michael G. Anderson, Bao Jian Fan, Robert Ritch, Jamie E. Craig, Janey L. Wiggs, Todd E. Scheetz, John H. Fingert

Publikováno v: BMC Genomics, Vol 22, Iss 1, Pp 1-12 (2021)

Abstract Background Glaucoma is a leading cause of visual disability and blindness. Release of iris pigment within the eye, pigment dispersion syndrome (PDS), can lead to one type of glaucoma known as pigmentary glaucoma. PDS has a genetic component,

Externí odkaz: https://doaj.org/article/ce7f241b20c8405bb3d1d6a9635ffb16

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

Autor: Puya Gharahkhani, Eric Jorgenson, Pirro Hysi, Anthony P. Khawaja, Sarah Pendergrass, Xikun Han, Jue Sheng Ong, Alex W. Hewitt, Ayellet V. Segrè, John M. Rouhana, Andrew R. Hamel, Robert P. Igo, Helene Choquet, Ayub Qassim, Navya S. Josyula, Jessica N. Cooke Bailey, Pieter W. M. Bonnemaijer, Adriana Iglesias, Owen M. Siggs, Terri L. Young, Veronique Vitart, Alberta A. H. J. Thiadens, Juha Karjalainen, Steffen Uebe, Ronald B. Melles, K. Saidas Nair, Robert Luben, Mark Simcoe, Nishani Amersinghe, Angela J. Cree, Rene Hohn, Alicia Poplawski, Li Jia Chen, Shi-Song Rong, Tin Aung, Eranga Nishanthie Vithana, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, and Me Research Team, Gen Tamiya, Yukihiro Shiga, Masayuki Yamamoto, Toru Nakazawa, Hannah Currant, Ewan Birney, Xin Wang, Adam Auton, Michelle K. Lupton, Nicholas G. Martin, Adeyinka Ashaye, Olusola Olawoye, Susan E. Williams, Stephen Akafo, Michele Ramsay, Kazuki Hashimoto, Yoichiro Kamatani, Masato Akiyama, Yukihide Momozawa, Paul J. Foster, Peng T. Khaw, James E. Morgan, Nicholas G. Strouthidis, Peter Kraft, Jae H. Kang, Chi Pui Pang, Francesca Pasutto, Paul Mitchell, Andrew J. Lotery, Aarno Palotie, Cornelia van Duijn, Jonathan L. Haines, Chris Hammond, Louis R. Pasquale, Caroline C. W. Klaver, Michael Hauser, Chiea Chuen Khor, David A. Mackey, Michiaki Kubo, Ching-Yu Cheng, Jamie E. Craig, Stuart MacGregor, Janey L. Wiggs

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)

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 l

Externí odkaz: https://doaj.org/article/ea46188f0f2c4f0cae58f959caf971a2