Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
Tedja, M. S., Wojciechowski, R., Hysi, P. G., Eriksson, N., Furlotte, N. A., Verhoeven, V. J. M., Iglesias, A. I., Meester-Smoor, M. A., Tompson, S. W., Fan, Q., Khawaja, A. P., Cheng, C.-Y., Höhn, R., Yamashiro, K., Wenocur, A., Grazal, C., Haller, T., Metspalu, A., Wedenoja, J., . . . Klaver, C. C. W. (2018). Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error. Nature Genetics, 50(6), 834-848. https://doi.org/10.1038/s41588-018-0127-7
Published in
Nature GeneticsAuthors
Date
2018Discipline
Gerontologia ja kansanterveysGerontologian tutkimuskeskusGerontology and Public HealthGerontology Research CenterCopyright
© 2018 Springer Nature Publishing AG.
Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasingly common cause of blindness. This genome-wide association meta-analysis in 160,420 participants and replication in 95,505 participants increased the number of established independent signals from 37 to 161 and showed high genetic correlation between Europeans and Asians (>0.78). Expression experiments and comprehensive in silico analyses identified retinal cell physiology and light processing as prominent mechanisms, and also identified functional contributions to refractive-error development in all cell types of the neurosensory retina, retinal pigment epithelium, vascular endothelium and extracellular matrix. Newly identified genes implicate novel mechanisms such as rod-and-cone bipolar synaptic neurotransmission, anterior-segment morphology and angiogenesis. Thirty-one loci resided in or near regions transcribing small RNAs, thus suggesting a role for post-transcriptional regulation. Our results support the notion that refractive errors are caused by a light-dependent retina-to-sclera signaling cascade and delineate potential pathobiological molecular drivers.
...


Publisher
Macmillan Publishers LimitedISSN Search the Publication Forum
1061-4036Publication in research information system
https://converis.jyu.fi/converis/portal/detail/Publication/28085903
Metadata
Show full item recordCollections
- Liikuntatieteiden tiedekunta [2401]
License
Related items
Showing items with similar title or keywords.
-
Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error
Fan, Qiao; Pozarickij, Alfred; Tan, Nicholas Y. Q.; Guo, Xiaobo; Verhoeven, Virginie J. M.; Vitart, Veronique; Guggenheim, Jeremy A.; Miyake, Masahiro; Tideman, J. Willem L.; Khawaja, Anthony P.; Zhang, Liang; MacGregor, Stuart; Höhn, René; Chen, Peng; Biino, Ginevra; Wedenoja, Juho; Saffari, Seyed Ehsan; Tedja, Milly S.; Xie, Jing; Lanca, Carla; Wang, Ya Xing; Sahebjada, Srujana; Mazur, Johanna; Mirshahi, Alireza; Martin, Nicholas G.; Yazar, Seyhan; Pennell, Craig E.; Yap, Maurice; Haarman, Annechien E. G.; Enthoven, Clair A.; Polling, JanRoelof; Bailey-Wilson, Joan E.; Veluchamy, Amutha Barathi; Burdon, Kathryn P.; Campbell, Harry; Chen, Li Jia; Chew, Emily Y.; Craig, Jamie E.; Cumberland, Phillippa M.; Deangelis, Margaret M.; Delcourt, Cécile; Ding, Xiaohu; Evans, David M.; Gharahkhani, Puya; Iglesias, Adriana I.; Haller, Toomas; Han, Xikun; Hoang, Quan; Igo, Robert P.; Iyengar, Sudha K.; Kähönen, Mika; Kaprio, Jaakko; Klein, Barbara E.; Klein, Ronald; Lass, Jonathan H.; Lee, Kris; Lehtimäki, Terho; Lewis, Deyana D.; Li, Qing; Li, Shi-Ming; Lyytikäinen, Leo-Pekka; Meguro, Akira; Metspalu, Andres; Middlebrooks, Candace D.; Mizuki, Nobuhisa; Musolf, Anthony M.; Nickels, Stefan; Oexle, Konrad; Pang, Chi Pui; Paterson, Andrew D.; Rahi, Jugnoo S.; Raitakari, Olli; Rudan, Igor; Stambolian, Dwight; Simpson, Claire L.; Wang, Ningli; Bin Wei, Wen; Williams, Katie M.; Wilson, James F.; Wojciechowski, Robert; Yamashiro, Kenji; Yam, Jason C. S.; Zhou, Xiangtian; Aslam, Tariq; Barman, Sarah A.; Barrett, Jenny H.; Bishop, Paul; Blows, Peter; Bunce, Catey; Carare, Roxana O.; Chakravarthy, Usha; Chan, Michelle; Chua, Sharon Y. L.; Crabb, David P.; Cumberland, Philippa M.; Day, Alexander; Desai, Parul; Dhillon, Bal; Dick, Andrew D.; Egan, Cathy; Ennis, Sarah; Fruttiger, Marcus; Gallacher, John E. J.; Garway-Heath, David F.; Gibson, Jane; Gore, Dan; Hardcastle, Alison; Harding, Simon P.; Hogg, Ruth E.; Keane, Pearse A.; Khaw, Sir Peng T.; Lascaratos, Gerassimos; Lotery, Andrew J.; 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.; Viswanathan, Ananth C.; Williams, Katie; Woodside, Jayne V.; Yates, Max M.; Yip, Jennifer; Zheng, Yalin; Hewitt, Alex W.; Jaddoe, Vincent W. V.; van Duijn, Cornelia M.; Hayward, Caroline; Polasek, Ozren; Tai, E-Shyong; Yoshikatsu, Hosoda; Hysi, Pirro G.; Young, Terri L.; Tsujikawa, Akitaka; Wang, Jie Jing; Mitchell, Paul; Pfeiffer, Norbert; Pärssinen, Olavi; Foster, Paul J.; Fossarello, Maurizio; Yip, Shea Ping; Williams, Cathy; Hammond, Christopher J.; Jonas, Jost B.; He, Mingguang; Mackey, David A.; Wong, Tien-Yin; Klaver, Caroline C. W.; Saw, Seang-Mei; Baird, Paul N.; Cheng, Ching-Yu (Nature Publishing Group, 2020)Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature ... -
Genetic Variants Associated With Human Eye Size Are Distinct From Those Conferring Susceptibility to Myopia
Plotnikov, Denis; Cui, Jiangtian; Clark, Rosie; Wedenoja, Juho; Pärssinen, Olavi; Tideman, J. Willem L.; Jonas, Jost B.; Wang, Yaxing; Rudan, Igor; Young, Terri L.; Mackey, David A.; Terry, Louise; Williams, Cathy; Guggenheim, Jeremy A.; for the UK Biobank Eye and Vision Consortium and the CREAM Consortium (Association for Research in Vision and Ophthalmology (ARVO), 2021)Purpose: Emmetropization requires coordinated scaling of the major ocular components, corneal curvature and axial length. This coordination is achieved in part through a shared set of genetic variants that regulate eye ... -
Genome-wide association study of serum creatinine as a surrogate of muscle size
Järvinen, Jarkko (2020)The present study aimed to find out whether age and sex affect serum creatinine (sCr) levels as well as to discover the relationship between sCr and muscle size, and finally to search for genetic variants associating with ... -
Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia
Gialluisi, Alessandro; Andlauer, Till F. M.; Mirza-Schreiber, Nazanin; Moll, Kristina; Becker, Jessica; Hoffmann, Per; Ludwig, Kerstin U.; Czamara, Darina; Pourcain, Beate St; Honbolygó, Ferenc; Tóth, Dénes; Csépe, Valéria; Huguet, Guillaume; Chaix, Yves; Iannuzzi, Stephanie; Demonet, Jean-Francois; Morris, Andrew P.; Hulslander, Jacqueline; Willcutt, Erik G.; DeFries, John C.; Olson, Richard K.; Smith, Shelley D.; Pennington, Bruce F.; Vaessen, Anniek; Maurer, Urs; Lyytinen, Heikki; Peyrard-Janvid, Myriam; Leppänen, Paavo H. T.; Brandeis, Daniel; Bonte, Milene; Stein, John F.; Talcott, Joel B.; Fauchereau, Fabien; Wilcke, Arndt; Kirsten, Holger; Müller, Bent; Francks, Clyde; Bourgeron, Thomas; Monaco, Anthony P.; Ramus, Franck; Landerl, Karin; Kere, Juha; Scerri, Thomas S.; Paracchini, Silvia; Fisher, Simon E.; Schumacher, Johannes; Nöthen, Markus M.; Müller-Myhsok, Bertram; Schulte-Körne, Gerd (Nature Publishing Group, 2021)Developmental dyslexia (DD) is a learning disorder affecting the ability to read, with a heritability of 40–60%. A notable part of this heritability remains unexplained, and large genetic studies are warranted to identify ... -
Genetic and environmental factors associated with the virulence of fish pathogen Flavobacterium columnare
Penttinen, Reetta (University of Jyväskylä, 2016)