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A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration

Autor: Rosie Clark, Samantha Sze-Yee Lee, Ran Du, Yining Wang, Sander C.M. Kneepkens, Jason Charng, Yu Huang, Michael L. Hunter, Chen Jiang, J.Willem L. Tideman, Ronald B. Melles, Caroline C.W. Klaver, David A. Mackey, Cathy Williams, Hélène Choquet, Kyoko Ohno-Matsui, Jeremy A. Guggenheim, Joan E. Bailey-Wilson, Paul N. Baird, Veluchamy A. Barathi, Ginevra Biino, Kathryn P. Burdon, Harry Campbell, Li Jia Chen, Ching-Yu Cheng, Emily Y. Chew, Jamie E. Craig, Margaret M. Deangelis, Cécile Delcourt, Xiaohu Ding, Qiao Fan, Maurizio Fossarello, Paul J. Foster, Puya Gharahkhani, Xiaobo Guo, Annechien E.G. Haarman, Toomas Haller, Christopher J. Hammond, Xikun Han, Caroline Hayward, Mingguang He, Alex W. Hewitt, Quan Hoang, Pirro G. Hysi, Adriana I. Iglesias, Robert P. Igo, Sudha K. Iyengar, Jost B. Jonas, Mika Kähönen, Jaakko Kaprio, Anthony P. Khawaja, Barbara E. Klein, Jonathan H. Lass, Kris Lee, Terho Lehtimäki, Deyana Lewis, Qing Li, Shi-Ming Li, Leo-Pekka Lyytikäinen, Stuart MacGregor, Nicholas G. Martin, Akira Meguro, Andres Metspalu, Candace Middlebrooks, Masahiro Miyake, Nobuhisa Mizuki, Anthony Musolf, Stefan Nickels, Konrad Oexle, Chi Pui Pang, Olavi Pärssinen, Andrew D. Paterson, Norbert Pfeiffer, Ozren Polasek, Jugnoo S. Rahi, Olli Raitakari, Igor Rudan, Srujana Sahebjada, Seang-Mei Saw, Claire L. Simpson, Dwight Stambolian, E-Shyong Tai, Milly S. Tedja, J. Willem L. Tideman, Akitaka Tsujikawa, Cornelia M. van Duijn, Virginie J.M. Verhoeven, Veronique Vitart, Ningli Wang, Ya Xing Wang, Juho Wedenoja, Wen Bin Wei, Katie M. Williams, James F. Wilson, Robert Wojciechowski, Jason C.S. Yam, Kenji Yamashiro, Maurice K.H. Yap, Seyhan Yazar, Shea Ping Yip, Terri L. Young, Xiangtian Zhou, Naomi Allen, Tariq Aslam, Denize Atan, Sarah Barman, Jenny Barrett, Paul Bishop, Graeme Black, Catey Bunce, Roxana Carare, Usha Chakravarthy, Michelle Chan, Sharon Chua, Valentina Cipriani, Alexander Day, Parul Desai, Bal Dhillon, Andrew Dick, Alexander Doney, Cathy Egan, Sarah Ennis, Paul Foster, Marcus Fruttiger, John Gallacher, David Garway-Heath, Jane Gibson, Dan Gore, Jeremy Guggenheim, Chris Hammond, Alison Hardcastle, Simon Harding, Ruth Hogg, Pirro Hysi, Pearse A. Keane, Peng Tee Khaw, Anthony Khawaja, Gerassimos Lascaratos, Thomas Littlejohns, Andrew Lotery, Phil Luthert, Tom MacGillivray, Sarah Mackie, Bernadette McGuinness, Gareth McKay, Martin McKibbin, Danny Mitry, Tony Moore, James Morgan, Zaynah Muthy, Eoin O'Sullivan, Chris Owen, Praveen Patel, Euan Paterson, Tunde Peto, Axel Petzold, Nikolas Pontikos, Jugnoo Rahi, Alicja Rudnicka, Jay Self, Panagiotis Sergouniotis, Sobha Sivaprasad, David Steel, Irene Stratton, Nicholas Strouthidis, Cathie Sudlow, Robyn Tapp, Caroline Thaung, Dhanes Thomas, Emanuele Trucco, Adnan Tufail, Stephen Vernon, Ananth Viswanathan, Katie Williams, Jayne Woodside, Max Yates, Jennifer Yip, Yalin Zheng

Publikováno v: Ebiomedicine, 91
EBioMedicine, 91:104551. Elsevier BV
EBioMedicine, 91:104551. Elsevier
CREAM Consortium & UK Biobank Eye and Vision Consortium 2023, ' A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration ', EBioMedicine, vol. 91, 104551 . https://doi.org/10.1016/j.ebiom.2023.104551

Contains fulltext : 292919.pdf (Publisher’s version ) (Open Access) BACKGROUND: High myopia (HM), defined as a spherical equivalent refractive error (SER) ≤ -6.00 diopters (D), is a leading cause of sight impairment, through myopic macular degene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fd21d2859c5d7aa472ef1a88a960a34
https://doi.org/10.1016/j.ebiom.2023.104551

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Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract

Autor: Preeti Gupta, Maryam Hazly Hilmy, Jie Jin Wang, Jiemin Liao, Allan Fong, Maria K. Swift, Johanna M. Colijn, Paul Mitchell, Ya Xing Wang, Anita S Y Chan, Barbara E.K. Klein, Pirro G. Hysi, Jaeyoon Chung, Emily Y. Chew, Wanting Zhao, Yang Shen, Ava Grace Tan, Hengtong Li, Eranga N. Vithana, Gyungah Jun, Wenting Liu, Tin Aung, Qiao Fan, Yuan Shi, Ekaterina Yonova-Doing, Soon-Phaik Chee, Sudha K. Iyengar, Yik Ying Teo, Periasamy Sundaresan, Chiea Chuen Khor, Zheng Li, Kathryn P. Burdon, Miao Ling Chee, Yih Chung Tham, Christopher J Hammond, Xiaoran Chai, Kerrin S. Small, Queenie S. Tan, Jacqueline Chua, Jost B. Jonas, Astrid E. Fletcher, Alexessander Couto Alves, Pieter W.M. Bonnemaijer, Ravilla D. Ravindran, Mei Chin Lee, Milly S. Tedja, Robert P. Igo, Kristine E. Lee, Tien Y Wong, Xinyi Su, Caroline C W Klaver, Xueling Sim, Ching-Yu Cheng, Chaolong Wang, Lars G. Fritsche

Publikováno v: Communications Biology, Vol 3, Iss 1, Pp 1-8 (2020)
Communications Biology, 3(1):755. Springer Nature
Communications Biology, 3
Communications Biology, 3, 1
Communications Biology

Nuclear cataract is the most common type of age-related cataract and a leading cause of blindness worldwide. Age-related nuclear cataract is heritable (h2 = 0.48), but little is known about specific genetic factors underlying this condition. Here we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2aeec66c1d9f59d61989e3c892fc6038
https://doaj.org/article/59d197cca67a4e4b95995e668e03898d

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Phenotypic consequences of the GJD2 risk genotype in myopia development

Autor: Hein Raat, Virginie J. M. Verhoeven, Annette Geerards, Jan E.E. Keunen, Camiel J. F. Boon, Jan Roelof Polling, Gregorius P M Luyten, Gwyneth A van Rijn, Annechien E. G. Haarman, Milly S. Tedja, J. Willem L. Tideman, Janine F. Felix, Clair A. Enthoven, Caroline C W Klaver

Publikováno v: Investigative Ophthalmology and Visual Science, 62(10). Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 62, 10
Investigative Ophthalmology & Visual Science, 62(10). ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Investigative Ophthalmology & Visual Science
Investigative Ophthalmology and Visual Science, 62

Item does not contain fulltext PURPOSE: To study the relatively high effect of the refractive error gene GJD2 in human myopia, and to assess its relationship with refractive error, ocular biometry and lifestyle in various age groups. METHODS: The pop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c20fb0731d1f2fcc437ddb98e3c97a74
https://pure.amc.nl/en/publications/phenotypic-consequences-of-the-gjd2-risk-genotype-in-myopia-development(c7eb82b3-65ac-4962-9d03-42959f501401).html

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Consortium for Refractive Error and Myopia (CREAM): Vision, Mission, and Accomplishments

Autor: Magda A. Meester-Smoor, Annechien E. G. Haarman, Jeremy A. Guggenheim, Christopher J Hammond, Jaakko Kaprio, Milly S. Tedja, David A. Mackey, Virginie J. M. Verhoeven, Caroline C W Klaver

Publikováno v: Essentials in Ophthalmology ISBN: 9789811591839

The Consortium for Refractive Error and Myopia (CREAM) is an international collaboration founded to increase knowledge on the genetic background of refractive error and myopia. The consortium was established in 2011 and consists of >50 studies from a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::88fe961e84d51f6791ae103fcf54e344
https://doi.org/10.1007/978-981-15-9184-6_26

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Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia

Publikováno v: 2020, ' Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia ', Nature Genetics, vol. 52, no. 4, pp. 401-407 . https://doi.org/10.1038/s41588-020-0599-0
Nature Genetics, 52, 4, pp. 401-7
Khaw, P T, Foster, P J, Guggenheim, J A, 23andMe Inc & Rahi, J S & Jorgenson, E & Hammond, C J 2020, ' Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia ', Nature Genetics . https://doi.org/10.1038/s41588-020-0599-0
Nature genetics
Nature Genetics, 52(4), 401-407. Nature Publishing Group
Nature Genetics, 52, 401-7

Refractive errors, in particular myopia, are a leading cause of morbidity and disability world-wide. Genetic investigation can improve understanding of the molecular mechanisms underlying abnormal eye development and impaired vision. We conducted a m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad2429fb33a365aab6de279e97eaedd6
https://kclpure.kcl.ac.uk/ws/files/130460230/AcceptedManuscript_Myopia.pdf

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Evidence That Emmetropization Buffers Against Both Genetic and Environmental Risk Factors for Myopia

Autor: Kate Northstone, Neema Ghorbani Mojarrad, J. Willem L. Tideman, Caroline C W Klaver, Annechien E. G. Haarman, Jeremy A. Guggenheim, Alfred Pozarickij, Clair A. Enthoven, Jan Roelof Polling, Milly S. Tedja, Denis Plotnikov, Cathy Williams

Publikováno v: Investigative Ophthalmology & Visual Science
Investigative Ophthalmology and Visual Science, 61
Pozarickij, A, Enthoven, C A, Ghorbani Mojarrad, N, Plotnikov, D, Tedja, M S, Haarman, A E G, Tideman, J W L, Polling, J R, Northstone, K, Williams, C, Klaver, C C W & Guggenheim, J A 2020, ' Evidence That Emmetropization Buffers Against Both Genetic and Environmental Risk Factors for Myopia ', Investigative Ophthalmology and Visual Science, vol. 61, no. 2 . https://doi.org/10.1167/iovs.61.2.41
Investigative Opthalmology & Visual Science
Investigative Ophthalmology & Visual Science, 61(2):Unsp 41. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 61, 2

Purpose: To test the hypothesis that emmetropization buffers against genetic and environmental risk factors for myopia by investigating whether risk factor effect sizes vary depending on children's position in the refractive error distribution.Method

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::154566356e03f59072785619e9a4e928
http://europepmc.org/articles/PMC7329625

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