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1. 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

Author

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

Published
2023
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2. Myopia management algorithm. Annexe to the article titled Update and guidance on management of myopia. European Society of Ophthalmology in cooperation with International Myopia Institute.

Author

Tapasztó, Beáta, Flitcroft, Daniel Ian, Aclimandos, Wagih A, Jonas, Jost B, De Faber, Jan-Tjeerd H N, Nagy, Zoltán Zsolt, Kestelyn, Philippe G, Januleviciene, Ingrida, Grzybowski, Andrzej, Vidinova, Christina Nicolaeva, Guggenheim, Jeremy A, Polling, Jan Roelof, Wolffsohn, James S, Tideman, J Willem L, Allen, Peter M, Baraas, Rigmor C, Saunders, Kathryn J, McCullough, Sara J, Gray, Lyle S, and Wahl, Siegfried

Published
2024
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5. Gender issues in myopia: a changing paradigm in generations

Author

Enthoven, Clair, primary, Haarman, Annechien, additional, Swierkowska, Joanna, additional, Tideman, J. Willem L., additional, Polling, Jan Roelof, additional, Raat, Hein, additional, Verhoeven, Virginie, additional, Labrecque, Jeremy, additional, and Klaver, Caroline, additional

Published
2024
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9. 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

Author

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

Published
2023
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10. Myopia control in Mendelian forms of myopia

Author

van der Sande, Emilie, primary, Polling, Jan Roelof, additional, Tideman, J. Willem L., additional, Meester‐Smoor, Magda A., additional, Thiadens, Alberta A. H. J., additional, Tan, Emily, additional, De Zeeuw, Chris I., additional, Hamelink, Ralph, additional, Willuhn, Ingo, additional, Verhoeven, Virginie J. M., additional, Winkelman, Beerend H. J., additional, and Klaver, Caroline C. W., additional

Published
2023
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12. Myopia management algorithm. Annexe to the article titled Update and guidance on management of myopia. European Society of Ophthalmology in cooperation with International Myopia Institute

Author

Tapasztó, Beáta, Flitcroft, Daniel Ian, Aclimandos, Wagih A, Jonas, Jost B., De Faber, Jan-Tjeerd H. N., Nagy, Zoltán Zsolt, Kestelyn, Philippe G., Januleviciene, Ingrida, Grzybowski, Andrzej, Vidinova, Christina Nicolaeva, Guggenheim, Jeremy A., Polling, Jan Roelof, Wolffsohn, James S., Tideman, J. Willem L., Allen, Peter M., Baraas, Rigmor C., Saunders, Kathryn J., McCullough, Sara J., Gray, Lyle S., Wahl, Siegfried, Smirnova, Irina Yurievna, Formenti, Marino, Radhakrishnan, Hema, Resnikoff, Serge, Németh, János, Tapasztó, Beáta, Flitcroft, Daniel Ian, Aclimandos, Wagih A, Jonas, Jost B., De Faber, Jan-Tjeerd H. N., Nagy, Zoltán Zsolt, Kestelyn, Philippe G., Januleviciene, Ingrida, Grzybowski, Andrzej, Vidinova, Christina Nicolaeva, Guggenheim, Jeremy A., Polling, Jan Roelof, Wolffsohn, James S., Tideman, J. Willem L., Allen, Peter M., Baraas, Rigmor C., Saunders, Kathryn J., McCullough, Sara J., Gray, Lyle S., Wahl, Siegfried, Smirnova, Irina Yurievna, Formenti, Marino, Radhakrishnan, Hema, Resnikoff, Serge, and Németh, János

Abstract

Myopia is becoming increasingly common in young generations all over the world, and it is predicted to become the most common cause of blindness and visual impairment in later life in the near future. Because myopia can cause serious complications and vision loss, it is critical to create and prescribe effective myopia treatment solutions that can help prevent or delay the onset and progression of myopia. The scientific understanding of myopia's causes, genetic background, environmental conditions, and various management techniques, including therapies to prevent or postpone its development and slow its progression, is rapidly expanding. However, some significant information gaps exist on this subject, making it difficult to develop an effective intervention plan. As with the creation of this present algorithm, a compromise is to work on best practices and reach consensus among a wide number of specialists. The quick rise in information regarding myopia management may be difficult for the busy eye care provider, but it necessitates a continuing need to evaluate new research and implement it into daily practice. To assist eye care providers in developing these strategies, an algorithm has been proposed that covers all aspects of myopia mitigation and management. The algorithm aims to provide practical assistance in choosing and developing an effective myopia management strategy tailored to the individual child. It incorporates the latest research findings and covers a wide range of modalities, from primary, secondary, and tertiary myopia prevention to interventions that reduce the progression of myopia.

Published
2023

13. Eye Size and Shape in Relation to Refractive Error in Children:A Magnetic Resonance Imaging Study

Author

Kneepkens, Sander C.M., Marstal, Kasper, Polling, Jan Roelof, Jaddoe, Vincent W.V., Vernooij, Meike W., Poot, Dirk H.J., Klaver, Caroline C.W., Tideman, J. Willem L., Kneepkens, Sander C.M., Marstal, Kasper, Polling, Jan Roelof, Jaddoe, Vincent W.V., Vernooij, Meike W., Poot, Dirk H.J., Klaver, Caroline C.W., and Tideman, J. Willem L.

Abstract

PURPOSE. The purpose of this study was to determine the association between eye shape and volume measured with magnetic resonance imaging (MRI) and optical biometry and with spherical equivalent (SE) in children. METHODS. For this study, there were 3637 10-year-old children from a population-based birth-cohort study that underwent optical biometry (IOL-master 500) and T2-weighted MRI scanning (height, width, and volume). Cycloplegic refractive error was determined by automated refraction. The MRI images of the eyes were segmented using an automated algorithm combining atlas registration with voxel classification. Associations among optical biometry, anthropometry, MRI measurements, and RE were tested using Pearson correlation. Differences between refractive error groups were tested using ANOVA. RESULTS. The mean volume of the posterior segment was 6350 (±680) mm 3. Myopic eyes (SE ≤ −0.5 diopters [D]) had 470 mm 3 (P < 0.001) and 970 mm 3 (P < 0.001) larger posterior segment volume than emmetropic and hyperopic eyes (SE ≥ +2.0D), respectively. The majority of eyes (77.1%) had an oblate shape, but 47.4% of myopic eyes had a prolate shape versus 3.9% of hyperopic eyes. The correlation between SE and MRI-derived posterior segment length (r −0.51, P < 0.001) was stronger than the correlation with height (r −0.30, P < 0.001) or width of the eye (r −0.10, P < 0.001). CONCLUSIONS. In this study, eye shape at 10 years of age was predominantly oblate, even in eyes with myopia. Of all MRI measurements, posterior segment length was most prominently associated with SE. Whether eye shape predicts future myopia development or progression should be investigated in longitudinal studies.

Published
2023

14. Myopia risk behaviour related to the COVID-19 lockdown in Europe:The generation R study

Author

Kneepkens, Sander C.M., de Vlieger, Jimmy, Tideman, J. Willem L., Enthoven, Clair A., Polling, Jan Roelof, Klaver, Caroline C.W., Kneepkens, Sander C.M., de Vlieger, Jimmy, Tideman, J. Willem L., Enthoven, Clair A., Polling, Jan Roelof, and Klaver, Caroline C.W.

Abstract

Purpose: To battle the spreading of the COVID-19 virus, nationwide lockdowns were implemented during 2020 and 2021. Reports from China revealed that their strict home confinements led to an increase in myopia incidence. The Netherlands implemented a more lenient lockdown, which allowed children to go outside. We evaluated the association between COVID-19 restrictions, myopia risk behaviour and myopia progression in Dutch teenagers. Method: A total of 1101 participants (mean age 16.3 ± 3.65 yrs) completed questionnaires about their activities before, during and after lockdown (March–October 2020). We used a repeated-measures ANOVA to compare time use between these time periods. Ocular measurements were acquired before the COVID-19 pandemic when participants were 13 years old; only 242 participants had ocular measurements at 18 years of age at the time of this analysis. Linear regression analyses were used to evaluate the association between lifestyle factors and myopia progression. Results: Children were on average 16.2 (1.03) years of age during lockdown. Total nearwork increased from 8.11 h/day to 11.79 h/day, and remained higher after lockdown at 9.46 h/day (p < 0.001). Non-educational nearwork increased by 2.22 h/day (+49%) during lockdown and was associated with faster axial length progression (B 0.002 mm/h/year; SE 0.001 p = 0.03). Before and during lockdown, the mean time spent outdoors was similar (1.78 h/day and 1.80 h/day, respectively). After lockdown, time spent outdoors decreased to 1.56 h/day (p < 0.001). Conclusion: The Dutch lockdown significantly increased digitised nearwork in adolescents but did not affect outdoor exposure. The changes in time spent performing nearwork remained after the lockdown measures had ended. We expect that the COVID-19 pandemic may lead to an increase in myopia prevalence and progression in European children.

Published
2023

15. 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

Author

Clark, Rosie, Lee, Samantha Sze Yee, Du, Ran, Wang, Yining, Kneepkens, Sander C.M., Charng, Jason, Huang, Yu, Hunter, Michael L., Jiang, Chen, Tideman, J. Willem L., Melles, Ronald B., Klaver, Caroline C.W., Mackey, David A., Williams, Cathy, Choquet, Hélène, Ohno-Matsui, Kyoko, Guggenheim, Jeremy A., Tedja, Milly S., van Duijn, Cornelia M., Verhoeven, Virginie J.M., Chan, Michelle, Clark, Rosie, Lee, Samantha Sze Yee, Du, Ran, Wang, Yining, Kneepkens, Sander C.M., Charng, Jason, Huang, Yu, Hunter, Michael L., Jiang, Chen, Tideman, J. Willem L., Melles, Ronald B., Klaver, Caroline C.W., Mackey, David A., Williams, Cathy, Choquet, Hélène, Ohno-Matsui, Kyoko, Guggenheim, Jeremy A., Tedja, Milly S., van Duijn, Cornelia M., Verhoeven, Virginie J.M., and Chan, Michelle

Abstract

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 degeneration (MMD). We aimed to derive an improved polygenic score (PGS) for predicting children at risk of HM and to test if a PGS is predictive of MMD after accounting for SER. Methods: The PGS was derived from genome-wide association studies in participants of UK Biobank, CREAM Consortium, and Genetic Epidemiology Research on Adult Health and Aging. MMD severity was quantified by a deep learning algorithm. Prediction of HM was quantified as the area under the receiver operating curve (AUROC). Prediction of severe MMD was assessed by logistic regression. Findings: In independent samples of European, African, South Asian and East Asian ancestry, the PGS explained 19% (95% confidence interval 17–21%), 2% (1–3%), 8% (7–10%) and 6% (3–9%) of the variation in SER, respectively. The AUROC for HM in these samples was 0.78 (0.75–0.81), 0.58 (0.53–0.64), 0.71 (0.69–0.74) and 0.67 (0.62–0.72), respectively. The PGS was not associated with the risk of MMD after accounting for SER: OR = 1.07 (0.92–1.24). Interpretation: Performance of the PGS approached the level required for clinical utility in Europeans but not in other ancestries. A PGS for refractive error was not predictive of MMD risk once SER was accounted for. Funding: Supported by the Welsh Government and Fight for Sight ( 24WG201).

Published
2023

16. The 18th International Myopia Conference 2022 in Rotterdam, The Netherlands

Author

Tideman, J. Willem L., Verhoeven, Virginie J.M., Meester-Smoor, Magda A., Kneepkens, Sander C.M., Liman, Kubra, Polling, Jan Roelof, Klaver, Caroline C.W., Tideman, J. Willem L., Verhoeven, Virginie J.M., Meester-Smoor, Magda A., Kneepkens, Sander C.M., Liman, Kubra, Polling, Jan Roelof, and Klaver, Caroline C.W.

Published
2023

18. Rare variant analyses across multiethnic cohorts identify novel genes for refractive error

Author

Musolf, Anthony M., Haarman, Annechien E. G., Luben, Robert N., Ong, Jue-Sheng, Patasova, Karina, Trapero, Rolando Hernandez, Marsh, Joseph, Jain, Ishika, Jain, Riya, Wang, Paul Zhiping, Lewis, Deyana D., Tedja, Milly S., Iglesias, Adriana I., Li, Hengtong, Cowan, Cameron S., Baird, Paul Nigel, Veluchamy, Amutha Barathi, Burdon, Kathryn P., Campbell, Harry, Chen, Li Jia, Cheng, Ching-Yu, Chew, Emily Y., Craig, Jamie E., Cumberland, Phillippa M., Deangelis, Margaret M., Delcourt, Cécile, Ding, Xiaohu, Evans, David M., Fan, Qiao, Fossarello, Maurizio, Foster, Paul J., Gharahkhani, Puya, Guggenheim, Jeremy A., Guo, Xiaobo, Han, Xikun, He, Mingguang, Hewitt, Alex W., Hoang, Quan V., Iyengar, Sudha K., Jonas, Jost B., Kähönen, Mika, Kaprio, Jaakko, Klein, Barbara E., Lass, Jonathan H., Lee, Kris, Lehtimäki, Terho, Lewis, Deyana, Li, Qing, Li, Shi-Ming, Lyytikäinen, Leo-Pekka, MacGregor, Stuart, Mackey, David A., Martin, Nicholas G., Meguro, Akira, Middlebrooks, Candace, Miyake, Masahiro, Mizuki, Nobuhisa, Musolf, Anthony, Nickels, Stefan, Oexle, Konrad, Pang, Chi Pui, Paterson, Andrew D., Pennell, Craig, Pfeiffer, Norbert, Polasek, Ozren, Rahi, Jugnoo S., Raitakari, Olli, Rudan, Igor, Sahebjada, Srujana, Simpson, Claire L., Tai, E-Shyong, Tideman, J. Willem L., Tsujikawa, Akitaka, Wang, Ningli, Bin, Wei Wen, Williams, Cathy, Williams, Katie M., Wilson, James F., Wojciechowski, Robert, Wang, Ya Xing, Yamashiro, Kenji, Yam, Jason C. S., Yap, Maurice K. H., Yazar, Seyhan, Yip, Shea Ping, Young, Terri L., Zhou, Xiangtian, Biino, Ginevra, Klein, Alison P., Duggal, Priya, Hayward, Caroline, Haller, Toomas, Metspalu, Andres, Wedenoja, Juho, Pärssinen, Olavi, Saw, Seang-Mei, Stambolian, Dwight, Hysi, Pirro G., Khawaja, Anthony P., Vitart, Veronique, Hammond, Christopher J., van Duijn, Cornelia M., Verhoeven, Virginie J. M., Klaver, Caroline C. W., and Bailey-Wilson, Joan E.

Subjects
genetic predisposition to disease, perinnölliset taudit, ympäristötekijät, taittovirheet, perinnöllisyyslääketiede, riskitekijät, quantitative trait, periytyvyys, genome-wide association studies, quantitative trait loci, perimä, silmätaudit, microarrays, perinnöllisyys
Abstract

Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles or other approaches for vision correction. Common genetic risk factors have been identified by genome-wide association studies (GWAS), but a great part of the refractive error heritability is still missing. Some of this heritability may be explained by rare variants (minor allele frequency [MAF] ≤ 0.01.). We performed multiple gene-based association tests of mean Spherical Equivalent with rare variants in exome array data from the Consortium for Refractive Error and Myopia (CREAM). The dataset consisted of over 27,000 total subjects from five cohorts of Indo-European and Eastern Asian ethnicity. We identified 129 unique genes associated with refractive error, many of which were replicated in multiple cohorts. Our best novel candidates included the retina expressed PDCD6IP, the circadian rhythm gene PER3, and P4HTM, which affects eye morphology. Future work will include functional studies and validation. Identification of genes contributing to refractive error and future understanding of their function may lead to better treatment and prevention of refractive errors, which themselves are important risk factors for various blinding conditions. peerReviewed

Published
2023

19. Smartphone Use Associated with Refractive Error in Teenagers

Author

Enthoven, Clair A., primary, Polling, Jan Roelof, additional, Verzijden, Timo, additional, Tideman, J. Willem L., additional, Al-Jaffar, Nora, additional, Jansen, Pauline W., additional, Raat, Hein, additional, Metz, Lauwerens, additional, Verhoeven, Virginie J.M., additional, and Klaver, Caroline C.W., additional

Published
2021
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20. Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development

Author

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

Published
2021
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21. Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

Author

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, 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, 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, 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, Verhoeven, Virginie J. M. [0000-0001-7359-7862], Vitart, Veronique [0000-0002-4991-3797], Guggenheim, Jeremy A. [0000-0001-5164-340X], Khawaja, Anthony P. [0000-0001-6802-8585], Zhang, Liang [0000-0001-9264-170X], MacGregor, Stuart [0000-0001-6731-8142], Wedenoja, Juho [0000-0002-6155-0378], Saffari, Seyed Ehsan [0000-0002-6473-4375], Tedja, Milly S. [0000-0003-0356-9684], Lanca, Carla [0000-0001-9918-787X], Wang, Ya Xing [0000-0003-2749-7793], Martin, Nicholas G. [0000-0003-4069-8020], Yap, Maurice [0000-0003-4687-4101], Hewitt, Alex W. [0000-0002-5123-5999], Jaddoe, Vincent W. V. [0000-0003-2939-0041], Hayward, Caroline [0000-0002-9405-9550], Hysi, Pirro G. [0000-0001-5752-2510], Young, Terri L. [0000-0001-6994-9941], Wang, Jie Jing [0000-0001-9491-4898], Pfeiffer, Norbert [0000-0002-5766-2617], Foster, Paul J. [0000-0002-4755-177X], Hammond, Christopher J. [0000-0002-3227-2620], Jonas, Jost B. [0000-0003-2972-5227], Klaver, Caroline C. W. [0000-0002-2355-5258], Baird, Paul N. [0000-0002-1305-3502], and Apollo - University of Cambridge Repository

Subjects
genetic structures, 45, 692/699/3161/3163, 631/208/727/2000, 631/208/205/2138, 45/43, article, sense organs, eye diseases
Abstract

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 GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects on eye elongation. Implicated genes are involved in extracellular matrix organization, developmental process for body and eye, connective tissue cartilage and glycosylation protein activities. Our study provides insights into population-specific novel genes for corneal curvature, and their pleiotropic effect in regulating eye size or conferring susceptibility to myopia.

Published
2021
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22. Genetic Variants Associated With Human Eye Size Are Distinct From Those Conferring Susceptibility to Myopia

Author

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., and for the UK Biobank Eye and Vision Consortium and the CREAM Consortium

Subjects
UK Biobank, genetic structures, eye size, taittovirheet, likinäköisyys, sense organs, refractive error, myopia, geneettiset tekijät, genetic correlation, eye diseases, silmät
Abstract

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 size. Poorly coordinated scaling of corneal curvature and axial length results in refractive error. We tested the hypothesis that genetic variants regulating eye size in emmetropic eyes are distinct from those conferring susceptibility to refractive error. Methods: A genome-wide association study (GWAS) for corneal curvature in 22,180 adult emmetropic individuals was performed as a proxy for a GWAS for eye size. A polygenic score created using lead GWAS variants was tested for association with corneal curvature and axial length in an independent sample: 437 classified as emmetropic and 637 as ametropic. The genetic correlation between eye size and refractive error was calculated using linkage disequilibrium score regression for approximately 1 million genetic variants. Results: The GWAS for corneal curvature in emmetropes identified 32 independent genetic variants (P < 5.0e-08). A polygenic score created using these 32 genetic markers explained 3.5% (P < 0.001) and 2.0% (P = 0.001) of the variance in corneal curvature and axial length, respectively, in the independent sample of emmetropic individuals but was not predictive of these traits in ametropic individuals. The genetic correlation between eye size and refractive error was close to zero (rg = 0.00; SE = 0.06; P = 0.95). Conclusions: These results support the hypothesis that genetic variants regulating eye size in emmetropic eyes do not overlap with those conferring susceptibility to myopia. This suggests that distinct biological pathways regulate normal eye growth and myopia development. peerReviewed

Published
2021

23. Update and guidance on management of myopia. European Society of Ophthalmology in cooperation with International Myopia Institute

Author

Németh, János, Tapasztó, Beáta, Aclimandos, Wagih A, Kestelyn, Philippe, Jonas, Jost B, De Faber, Jan-Tjeerd H N, Januleviciene, Ingrida, Grzybowski, Andrzej, Nagy, Zoltán Zsolt, Pärssinen, Olavi, Guggenheim, Jeremy A, Allen, Peter M, Baraas, Rigmor C, Saunders, Kathryn J, Flitcroft, Daniel Ian, Gray, Lyle S, Polling, Jan Roelof, Haarman, Annechien EG, Tideman, J Willem L, Wolffsohn, James Stuart, Wahl, Siegfried, Mulder, Jeroen A, Smirnova, Irina Yurievna, Formenti, Marino, Radhakrishnan, Hema, Resnikoff, Serge, Németh, János, Tapasztó, Beáta, Aclimandos, Wagih A, Kestelyn, Philippe, Jonas, Jost B, De Faber, Jan-Tjeerd H N, Januleviciene, Ingrida, Grzybowski, Andrzej, Nagy, Zoltán Zsolt, Pärssinen, Olavi, Guggenheim, Jeremy A, Allen, Peter M, Baraas, Rigmor C, Saunders, Kathryn J, Flitcroft, Daniel Ian, Gray, Lyle S, Polling, Jan Roelof, Haarman, Annechien EG, Tideman, J Willem L, Wolffsohn, James Stuart, Wahl, Siegfried, Mulder, Jeroen A, Smirnova, Irina Yurievna, Formenti, Marino, Radhakrishnan, Hema, and Resnikoff, Serge

Abstract

The prevalence of myopia is increasing extensively worldwide. The number of people with myopia in 2020 is predicted to be 2.6 billion globally, which is expected to rise up to 4.9 billion by 2050, unless preventive actions and interventions are taken. The number of individuals with high myopia is also increasing substantially and pathological myopia is predicted to become the most common cause of irreversible vision impairment and blindness worldwide and also in Europe. These prevalence estimates indicate the importance of reducing the burden of myopia by means of myopia control interventions to prevent myopia onset and to slow down myopia progression. Due to the urgency of the situation, the European Society of Ophthalmology decided to publish this update of the current information and guidance on management of myopia. The pathogenesis and genetics of myopia are also summarized and epidemiology, risk factors, preventive and treatment options are discussed in details.

Published
2021

24. IMI Risk Factors for Myopia

Author

Morgan, Ian G., primary, Wu, Pei-Chang, additional, Ostrin, Lisa A., additional, Tideman, J. Willem L., additional, Yam, Jason C., additional, Lan, Weizhong, additional, Baraas, Rigmor C., additional, He, Xiangui, additional, Sankaridurg, Padmaja, additional, Saw, Seang-Mei, additional, French, Amanda N., additional, Rose, Kathryn A., additional, and Guggenheim, Jeremy A., additional

Published
2021
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25. Update and guidance on management of myopia. European Society of Ophthalmology in cooperation with International Myopia Institute

Author

Németh, János, primary, Tapasztó, Beáta, additional, Aclimandos, Wagih A, additional, Kestelyn, Philippe, additional, Jonas, Jost B, additional, De Faber, Jan-Tjeerd H N, additional, Januleviciene, Ingrida, additional, Grzybowski, Andrzej, additional, Nagy, Zoltán Zsolt, additional, Pärssinen, Olavi, additional, Guggenheim, Jeremy A, additional, Allen, Peter M, additional, Baraas, Rigmor C, additional, Saunders, Kathryn J, additional, Flitcroft, Daniel Ian, additional, Gray, Lyle S, additional, Polling, Jan Roelof, additional, Haarman, Annechien EG, additional, Tideman, J Willem L, additional, Wolffsohn, James Stuart, additional, Wahl, Siegfried, additional, Mulder, Jeroen A, additional, Smirnova, Irina Yurievna, additional, Formenti, Marino, additional, Radhakrishnan, Hema, additional, and Resnikoff, Serge, additional

Published
2021
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26. Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

Author

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, Consortium for Refractive Error and Myopia (CREAM), UK Biobank Eye and Vision Consortium, Barman, Sarah A., 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., and Cheng, Ching-Yu

Subjects
genetic structures, sense organs, eye diseases, biological
Abstract

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 GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects on eye elongation. Implicated genes are involved in extracellular matrix organization, developmental process for body and eye, connective tissue cartilage and glycosylation protein activities. Our study provides insights into population-specific novel genes for corneal curvature, and their pleiotropic effect in regulating eye size or conferring susceptibility to myopia.

Published
2020

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

Author

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

Published
2020
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29. IMI – Clinical Management Guidelines Report

Author

Gifford, Kate L., Richdale, Kathryn, Kang, Pauline, Aller, Thomas A., Lam, Carly S., Liu, Y. Maria, Michaud, Langis, Mulder, Jeroen, Orr, Janis B., Rose, Kathryn A., Saunders, Kathryn J., Seidel, Dirk, Tideman, J. Willem L., Sankaridurg, Padmaja, Gifford, Kate L., Richdale, Kathryn, Kang, Pauline, Aller, Thomas A., Lam, Carly S., Liu, Y. Maria, Michaud, Langis, Mulder, Jeroen, Orr, Janis B., Rose, Kathryn A., Saunders, Kathryn J., Seidel, Dirk, Tideman, J. Willem L., and Sankaridurg, Padmaja

Abstract

Best practice clinical guidelines for myopia control involve an understanding of the epidemiology of myopia, risk factors, visual environment interventions, and optical and pharmacologic treatments, as well as skills to translate the risks and benefits of a given myopia control treatment into lay language for both the patient and their parent or caregiver. This report details evidence-based best practice management of the pre-, stable, and the progressing myope, including risk factor identification, examination, selection of treatment strategies, and guidelines for ongoing management. Practitioner considerations such as informed consent, prescribing off-label treatment, and guides for patient and parent communication are detailed. The future research directions of myopia interventions and treatments are discussed, along with the provision of clinical references, resources, and recommendations for continuing professional education in this growing area of clinical practice.

Published
2019

30. IMI - Clinical Management Guidelines Report

Author

Gifford, Kate L, Richdale, Kathryn, Kang, Pauline, Aller, Thomas A, Lam, Carly S, Liu, Y Maria, Michaud, Langis, Mulder, Jeroen, Orr, Janis B, Rose, Kathryn A, Saunders, Kathryn J, Seidel, Dirk, Tideman, J Willem L, Sankaridurg, Padmaja, Gifford, Kate L, Richdale, Kathryn, Kang, Pauline, Aller, Thomas A, Lam, Carly S, Liu, Y Maria, Michaud, Langis, Mulder, Jeroen, Orr, Janis B, Rose, Kathryn A, Saunders, Kathryn J, Seidel, Dirk, Tideman, J Willem L, and Sankaridurg, Padmaja

Abstract

Best practice clinical guidelines for myopia control involve an understanding of the epidemiology of myopia, risk factors, visual environment interventions, and optical and pharmacologic treatments, as well as skills to translate the risks and benefits of a given myopia control treatment into lay language for both the patient and their parent or caregiver. This report details evidence-based best practice management of the pre-, stable, and the progressing myope, including risk factor identification, examination, selection of treatment strategies, and guidelines for ongoing management. Practitioner considerations such as informed consent, prescribing off-label treatment, and guides for patient and parent communication are detailed. The future research directions of myopia interventions and treatments are discussed, along with the provision of clinical references, resources, and recommendations for continuing professional education in this growing area of clinical practice.

Published
2019

31. Evaluation of Shared Genetic Susceptibility to High and Low Myopia and Hyperopia.

Author

Tideman, J. Willem L., Pärssinen, Olavi, Haarman, Annechien E. G., Khawaja, Anthony P., Wedenoja, Juho, Williams, Katie M., Biino, Ginevra, Ding, Xiaohu, Kähönen, Mika, Lehtimäki, Terho, Raitakari, Olli T., Cheng, Ching-Yu, Jonas, Jost B., Young, Terri L., Bailey-Wilson, Joan E., Rahi, Jugnoo, Williams, Cathy, He, Mingguang, Mackey, David A., and Guggenheim, Jeremy A.

Published
2021
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32. A genome-wide association study of corneal astigmatism:The CREAM Consortium

Author

Shah, Rupal L, Li, Qing, Zhao, Wanting, Tedja, Milly S, Tideman, J Willem L, Khawaja, Anthony P, Fan, Qiao, Yazar, Seyhan, Williams, Katie M, Verhoeven, Virginie J M, Xie, Jing, Wang, Ya Xing, Hess, Moritz, Nickels, Stefan, Lackner, Karl J, Pärssinen, Olavi, Wedenoja, Juho, Biino, Ginevra, Concas, Maria Pina, Uitterlinden, André, Rivadeneira, Fernando, Jaddoe, Vincent W V, Hysi, Pirro G, Sim, Xueling, Tan, Nicholas, Tham, Yih-Chung, Sensaki, Sonoko, Hofman, Albert, Vingerling, Johannes R, Jonas, Jost B, Hammond, Christopher J, Höhn, René, Baird, Paul N, Wong, Tien-Yin, Cheng, Chinfsg-Yu, Teo, Yik Ying, Mackey, David A, Williams, Cathy, Saw, Seang-Mei, Klaver, Caroline C W, Guggenheim, Jeremy A, and Bailey-Wilson, Joan E

Abstract

Purpose: To identify genes and genetic markers associated with corneal astigmatism.Methods: A meta-analysis of genome-wide association studies (GWASs) of corneal astigmatism undertaken for 14 European ancestry (n=22,250) and 8 Asian ancestry (n=9,120) cohorts was performed by the Consortium for Refractive Error and Myopia. Cases were defined as having >0.75 diopters of corneal astigmatism. Subsequent gene-based and gene-set analyses of the meta-analyzed results of European ancestry cohorts were performed using VEGAS2 and MAGMA software. Additionally, estimates of single nucleotide polymorphism (SNP)-based heritability for corneal and refractive astigmatism and the spherical equivalent were calculated for Europeans using LD score regression.Results: The meta-analysis of all cohorts identified a genome-wide significant locus near the platelet-derived growth factor receptor alpha (PDGFRA) gene: top SNP: rs7673984, odds ratio=1.12 (95% CI:1.08-1.16), p=5.55×10-9. No other genome-wide significant loci were identified in the combined analysis or European/Asian ancestry-specific analyses. Gene-based analysis identified three novel candidate genes for corneal astigmatism in Europeans-claudin-7 (CLDN7), acid phosphatase 2, lysosomal (ACP2), and TNF alpha-induced protein 8 like 3 (TNFAIP8L3).Conclusions: In addition to replicating a previously identified genome-wide significant locus for corneal astigmatism near thePDGFRAgene, gene-based analysis identified three novel candidate genes,CLDN7,ACP2, andTNFAIP8L3, that warrant further investigation to understand their role in the pathogenesis of corneal astigmatism. The much lower number of genetic variants and genes demonstrating an association with corneal astigmatism compared to published spherical equivalent GWAS analyses suggest a greater influence of rare genetic variants, non-additive genetic effects, or environmental factors in the development of astigmatism.

Published
2018

33. IMI – Clinical Management Guidelines Report

Author

Gifford, Kate L., primary, Richdale, Kathryn, additional, Kang, Pauline, additional, Aller, Thomas A., additional, Lam, Carly S., additional, Liu, Y. Maria, additional, Michaud, Langis, additional, Mulder, Jeroen, additional, Orr, Janis B., additional, Rose, Kathryn A., additional, Saunders, Kathryn J., additional, Seidel, Dirk, additional, Tideman, J. Willem L., additional, and Sankaridurg, Padmaja, additional

Published
2019
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36. Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium

Author

Fan, Qiao, Guo, Xiaobo, Tideman, J Willem L, Williams, Katie M, Yazar, Seyhan, Hosseini, S Mohsen, Howe, Laura D, Pourcain, Beaté St, Evans, David M, Timpson, Nicholas J, McMahon, George, Hysi, Pirro G, Krapohl, Eva, Wang, Ya Xing, Jonas, Jost B, Baird, Paul Nigel, Wang, Jie Jin, Cheng, Ching-Yu, Teo, Yik-Ying, Wong, Tien-Yin, Ding, Xiaohu, Wojciechowski, Robert, Young, Terri L, Pärssinen, Olavi, Oexle, Konrad, Pfeiffer, Norbert, Bailey-Wilson, Joan E, Paterson, Andrew D, Klaver, Caroline CW, Plomin, Robert, Hammond, Christopher J, Mackey, David A, He, Mingguang, Saw, Seang-Mei, Williams, Cathy, Guggenheim, Jeremy A, CREAM Consortium, Hosseini, S Mohsen [0000-0003-3626-9928], and Apollo - University of Cambridge Repository

Subjects
Male, Adolescent, Refractive Errors, Polymorphism, Single Nucleotide, Article, White People, Asian People, Myopia, Humans, Female, Gene-Environment Interaction, Genetic Predisposition to Disease, Longitudinal Studies, Age of Onset, Child, Genome-Wide Association Study
Abstract

Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with increasing age, or (c) onset later in childhood (N = 10, 5 and 11 variants, respectively). A genetic risk score (GRS) for all 39 variants explained 0.6% (P = 6.6E-08) and 2.3% (P = 6.9E-21) of the variance in refractive error at ages 7 and 15, respectively, supporting increased effects from these genetic variants at older ages. Replication in multi-ancestry samples (combined N = 5599) yielded evidence of childhood onset for 6 of 12 variants present in both Asians and Europeans. There was no indication that variant or GRS effects altered depending on time outdoors, however 5 variants showed nominal evidence of interactions with nearwork (top variant, rs7829127 in ZMAT4; P = 6.3E-04).

Published
2016

37. Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia:The CREAM Consortium

Author

Fan, Qiao, Guo, Xiaobo, Tideman, J. Willem L, Williams, Katie M., Yazar, Seyhan, Hosseini, S. Mohsen, Howe, Laura D., Pourcain, Beaté St, Evans, David M., Timpson, Nicholas J., McMahon, George, Hysi, Pirro G., Krapohl, Eva, Wang, Ya Xing, Jonas, Jost B., Baird, Paul Nigel, Wang, Jie Jin, Cheng, Ching Yu, Teo, Yik Ying, Wong, Tien Yin, Ding, Xiaohu, Wojciechowski, Robert, Young, Terri L., Pärssinen, Olavi, Oexle, Konrad, Pfeiffer, Norbert, Bailey-Wilson, Joan E., Paterson, Andrew D., Klaver, Caroline C W, Plomin, Robert, Hammond, Christopher J., He, Mingguang, Saw, Seang Mei, Guggenheim, Jeremy A., Meguro, Akira, Wright, Alan F., Hewitt, Alex W., Young, Alvin L., Veluchamy, Amutha Barathi, Metspalu, Andres, Döring, Angela, Khawaja, Anthony P., Klein, Barbara E., St Pourcain, Beate, Fleck, Brian, Hayward, Caroline, Williams, Cathy, Delcourt, Cécile, Pang, Chi Pui, Khor, Chiea Chuen, Gieger, Christian, Simpson, Claire L., Van Duijn, Cornelia M., Mackey, David A., Stambolian, Dwight, Chew, Emily, Tai, E. Shyong, Mihailov, Evelin, Smith, George Davey, Biino, Ginevra, Campbell, Harry, Rudan, Igor, Seppälä, Ilkka, Kaprio, Jaakko, Wilson, James F., Craig, Jamie E., Ried, Janina S., Korobelnik, Jean François, Fondran, Jeremy R., Liao, Jiemin, Zhao, Jing Hua, Xie, Jing, Kemp, John P., Lass, Jonathan H., Rahi, Jugnoo S., Wedenoja, Juho, Mäkelä, Kari Matti, Burdon, Kathryn P., Khaw, Kay Tee, Yamashiro, Kenji, Chen, Li Jia, Xu, Liang, Farrer, Lindsay, Ikram, M. Kamran, Deangelis, Margaret M., Morrison, Margaux, Schache, Maria, Pirastu, Mario, Miyake, Masahiro, Yap, Maurice K H, Fossarello, Maurizio, Kähönen, Mika, Tedja, Milly S., Yoshimura, Nagahisa, Martin, Nicholas G., Wareham, Nick J., Mizuki, Nobuhisa, Raitakari, Olli, Polasek, Ozren, Tam, Pancy O., Foster, Paul J., Mitchell, Paul, Chen, Peng, Cumberland, Phillippa, Gharahkhani, Puya, Höhn, René, Fogarty, Rhys D., Luben, Robert N., Igo, Robert P., Klein, Ronald, Janmahasatian, Sarayut, Yip, Shea Ping, Feng, Sheng, Vaccargiu, Simona, Panda-Jonas, Songhomitra, MacGregor, Stuart, Iyengar, Sudha K., Rantanen, Taina, Lehtimäki, Terho, Meitinger, Thomas, Aung, Tin, Haller, Toomas, Vitart, Veronique, Nangia, Vinay, Verhoeven, Virginie J M, Jhanji, Vishal, Zhao, Wanting, Chen, Wei, Zhou, Xiangtian, Lu, Yi, and Vatavuk, Zoran

Abstract

Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with increasing age, or (c) onset later in childhood (N = 10, 5 and 11 variants, respectively). A genetic risk score (GRS) for all 39 variants explained 0.6% (P = 6.6E-08) and 2.3% (P = 6.9E-21) of the variance in refractive error at ages 7 and 15, respectively, supporting increased effects from these genetic variants at older ages. Replication in multi-ancestry samples (combined N = 5599) yielded evidence of childhood onset for 6 of 12 variants present in both Asians and Europeans. There was no indication that variant or GRS effects altered depending on time outdoors, however 5 variants showed nominal evidence of interactions with nearwork (top variant, rs7829127 in ZMAT4; P = 6.3E-04).

Published
2016

39. Association of Axial Length With Risk of Uncorrectable Visual Impairment for Europeans With Myopia

Author

Tideman, J. Willem L., primary, Snabel, Margaretha C. C., additional, Tedja, Milly S., additional, van Rijn, Gwyneth A., additional, Wong, King T., additional, Kuijpers, Robert W. A. M., additional, Vingerling, Johannes R., additional, Hofman, Albert, additional, Buitendijk, Gabriëlle H. S., additional, Keunen, Jan E. E., additional, Boon, Camiel J. F., additional, Geerards, Annette J. M., additional, Luyten, Gregorius P. M., additional, Verhoeven, Virginie J. M., additional, and Klaver, Caroline C. W., additional

Published
2016
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41. Environmental factors explain socioeconomic prevalence differences in myopia in 6-year-old children.

Author

Tideman, J. Willem L., Polling, Jan Roelof, Hofman, Albert, Jaddoe, Vincent W. V., Mackenbach, Johan P., and Klaver, Caroline C. W.

Abstract

Purpose High myopia (≤-6 D) usually has its onset before 10 years of age and can lead to blinding complications later in life. We examined whether differences in myopia prevalences in socioeconomic risk groups could be explained by differences in lifestyle factors. Methods A total of 5711 six-year-old children participating in the prospective population-based birth cohort study Generation R underwent a stepwise ophthalmic examination, which included visual acuity and objective cycloplegic refraction to identify children with myopia (≤-0.5D). Daily activities, ethnicity, factors representing family socioeconomic status and housing were ascertained by questionnaire. Risk assessments of myopia and mediation analyses were performed using logistic regression; attenuation of risks was calculated by bootstrapping. Results Prevalence of myopia was 2.4% (n=137). Myopic children spent more time indoors and less outdoors than non-myopic children (p<0.01), had lower vitamin D (p=0.01), had a higher body mass index and participated less in sports (p=0.03). Children of non-European descent (OR 2.60; 95% CI 1.84 to 3.68), low maternal education (OR 2.27; 95% CI 1.57 to 3.28) and low family income (OR 2.62; 95% CI 1.8 to 3.74) were more often myopic. Lifestyle factors explained the majority of the increased risk for ethnicity (82%; 95% CI 55 to 120), maternal education (69%; 95% CI 45 to 109) and family socioeconomic status (71%; 95% CI 46 to 104). Conclusion This study found environmental factors to be strong risk factors for myopia already at the age of 6 years. The myopia prevalence differences in socioeconomic groups were greatly determined by differences in distribution of these environmental risk factors, highlighting the importance of lifestyle adjustments in young children developing myopia. [ABSTRACT FROM AUTHOR]

Published
2018
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42. A genome-wide association study of corneal astigmatism: The CREAM Consortium.

Author

Shah, Rupal L., Qing Li, Wanting Zhao, Tedja, Milly S., Tideman, J. Willem L., Khawaja, Anthony P., Qiao Fan, Yazar, Seyhan, Williams, Katie M., Verhoeven, Virginie J. M., Jing Xie, Ya Xing Wang, Hess, Moritz, Nickels, Stefan, Lackner, Karl J., Pärssinen, Olavi, Wedenoja, Juho, Biino, Ginevra, Concas, Maria Pina, and Uitterlinden, André

Published
2018

43. Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study.

Author

Cuellar-Partida, Gabriel, Williams, Katie M., Yazar, Seyhan, Guggenheim, Jeremy A., Hewitt, Alex W., Williams, Cathy, Jie Jin Wang, Pik-Fang Kho, Seang Mei Saw, Ching-Yu Cheng, Tien Yin Wong, Tin Aung, Young, Terri L., Tideman, J. Willem L., Jonas, Jost B., Mitchell, Paul, Wojciechowski, Robert, Stambolian, Dwight, Hysi, Pirro, and Hammond, Christopher J.

Subjects
VITAMIN D deficiency, MYOPIA, DISEASE prevalence, BLOOD serum analysis, CAUCASIAN race, HEALTH, ASIANS, DISEASE susceptibility, GENETIC polymorphisms, META-analysis, RESEARCH funding, VITAMIN D, WHITE people, SEQUENCE analysis
Abstract

Background: Myopia prevalence has increased in the past 20 years, with many studies linking the increase to reduced time spent outdoors. A number of recent observational studies have shown an inverse association between vitamin D [25(OH)D] serum levels and myopia. However, in such studies it is difficult to separate the effects of time outdoors and vitamin D levels. In this work we use Mendelian randomization (MR) to assess if genetically determined 25(OH)D levels contribute to the degree of myopia.Methods: We performed MR using results from a meta-analysis of refractive error (RE) genome-wide association study (GWAS) that included 37 382 and 8 376 adult participants of European and Asian ancestry, respectively, published by the Consortium for Refractive Error And Myopia (CREAM). We used single nucleotide polymorphisms (SNPs) in the DHCR7, CYP2R1, GC and CYP24A1 genes with known effects on 25(OH)D concentration as instrumental variables (IV). We estimated the effect of 25(OH)D on myopia level using a Wald-type ratio estimator based on the effect estimates from the CREAM GWAS.Results: Using the combined effect attributed to the four SNPs, the estimate for the effect of 25(OH)D on refractive error was -0.02 [95% confidence interval (CI) -0.09, 0.04] dioptres (D) per 10 nmol/l increase in 25(OH)D concentration in Caucasians and 0.01 (95% CI -0.17, 0.19) D per 10 nmol/l increase in Asians.Conclusions: The tight confidence intervals on our estimates suggest the true contribution of vitamin D levels to degree of myopia is very small and indistinguishable from zero. Previous findings from observational studies linking vitamin D levels to myopia were likely attributable to the effects of confounding by time spent outdoors. [ABSTRACT FROM AUTHOR]

Published
2017
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45. A genome-wide association study of corneal astigmatism

Author

Shah, Rupal L., Qing Li, Wanting Zhao, Tedja, Milly S., Tideman, J. Willem L., Khawaja, Anthony P., Qiao Fan, Seyhan Yazar, Williams, Katie M., Verhoeven, Virginie J. M., Jing Xie, Ya Xing Wang, Moritz Hess, Stefan Nickels, Lackner, Karl J., Olavi Pärssinen, Juho Wedenoja, Ginevra Biino, Maria Pina Concas, André Uitterlinden, Fernando Rivadeneira, Jaddoe, Vincent W. V., Hysi, Pirro G., Xueling Sim, Nicholas Tan, Yih-Chung Tham, Sonoko Sensaki, Albert Hofman, Vingerling, Johannes R., Jonas, Jost B., Hammond, Christopher J., René Höhn, Baird, Paul N., Tien-Yin Wong, Chinfsg-Yu Cheng, Yik Ying Teo, Mackey, David A., Cathy Williams, Seang-Mei Saw, Klaver, Caroline C. W., Guggenheim, Jeremy A., Bailey-Wilson, Joan E., and Cream, The Consortium

46. A genome-wide association study of corneal astigmatism: The CREAM Consortium

Author

Shah, Rupal L., Li, Qing, Zhao, Wanting, Tedja, Milly S., Tideman, J. Willem L., Khawaja, Anthony P., Fan, Qiao, Yazar, Seyhan, Williams, Katie M., Verhoeven, Virginie J. M., Xie, Jing, Wang, Ya Xing, Hess, Moritz, Nickels, Stefan, Lackner, Karl J., Parssinen, Olavi, Wedenoja, Juho, Biino, Ginevra, Concas, Maria Pina, Uitterlinden, Andre, Rivadeneira, Fernando, Jaddoe, Vincent W. V., Hysi, Pirro G., Sim, Xueling, Tan, Nicholas, Tham, Yih-Chung, Sensaki, Sonoko, Hofman, Albert, Vingerling, Johannes R., Jonas, Jost B., Mitchell, Paul, Hammond, Christopher J., Hoehn, Rene, Baird, Paul N., Tien Y Wong, Cheng, Chinfsg-Yu, Teo, Yik Ying, Mackey, David A., Williams, Cathy, Saw, Seang-Mei, Klaver, Caroline C. W., Guggenheim, Jeremy A., Bailey-Wilson, Joan E., Epidemiology, Ophthalmology, Internal Medicine, and Pediatrics

Subjects
0301 basic medicine, Receptor, Platelet-Derived Growth Factor alpha, Acid Phosphatase, Gene Expression, 610 Medicine & health, biomarkkerit, Polymorphism, Single Nucleotide, White People, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Corneal Diseases, Cohort Studies, Cornea, 03 medical and health sciences, 0302 clinical medicine, Asian People, Odds Ratio, Humans, Genetic Predisposition to Disease, sarveiskalvo, geenit, Intracellular Signaling Peptides and Proteins, Astigmatism, 030104 developmental biology, silmätaudit, Claudins, genetic markers, 030221 ophthalmology & optometry, corneal astigmatism, Software, silmät, Research Article, Genome-Wide Association Study
Abstract

Contains fulltext : 191261.pdf (Publisher’s version ) (Open Access) Purpose: To identify genes and genetic markers associated with corneal astigmatism. Methods: A meta-analysis of genome-wide association studies (GWASs) of corneal astigmatism undertaken for 14 European ancestry (n=22,250) and 8 Asian ancestry (n=9,120) cohorts was performed by the Consortium for Refractive Error and Myopia. Cases were defined as having >0.75 diopters of corneal astigmatism. Subsequent gene-based and gene-set analyses of the meta-analyzed results of European ancestry cohorts were performed using VEGAS2 and MAGMA software. Additionally, estimates of single nucleotide polymorphism (SNP)-based heritability for corneal and refractive astigmatism and the spherical equivalent were calculated for Europeans using LD score regression. Results: The meta-analysis of all cohorts identified a genome-wide significant locus near the platelet-derived growth factor receptor alpha (PDGFRA) gene: top SNP: rs7673984, odds ratio=1.12 (95% CI:1.08-1.16), p=5.55x10(-9). No other genome-wide significant loci were identified in the combined analysis or European/Asian ancestry-specific analyses. Gene-based analysis identified three novel candidate genes for corneal astigmatism in Europeans-claudin-7 (CLDN7), acid phosphatase 2, lysosomal (ACP2), and TNF alpha-induced protein 8 like 3 (TNFAIP8L3). Conclusions: In addition to replicating a previously identified genome-wide significant locus for corneal astigmatism near the PDGFRA gene, gene-based analysis identified three novel candidate genes, CLDN7, ACP2, and TNFAIP8L3, that warrant further investigation to understand their role in the pathogenesis of corneal astigmatism. The much lower number of genetic variants and genes demonstrating an association with corneal astigmatism compared to published spherical equivalent GWAS analyses suggest a greater influence of rare genetic variants, non-additive genetic effects, or environmental factors in the development of astigmatism.

47. A genome-wide association study of corneal astigmatism

Author

Cream, Consortium, Shah, Rupal L., Qing Li, Wanting Zhao, Tedja, Milly S., Tideman, J. Willem L., Khawaja, Anthony P., Qiao Fan, Seyhan Yazar, Williams, Katie M., Verhoeven, Virginie J. M., Jing Xie, Ya Xing Wang, Moritz Hess, Stefan Nickels, Lackner, Karl J., Olavi Parssinen, Juho Wedenoja, Ginevra Biino, Maria Pina Concas, Andre Uitterlinden, Fernando Rivadeneira, Jaddoe, Vincent W. V., Hysi, Pirro G., Xueling Sim, Nicholas Tan, Yih-Chung Tham, Sonoko Sensaki, Albert Hofman, Vingerling, Johannes R., Jonas, Jost B., Paul Mitchell, Hammond, Christopher J., Rene Hoehn, Baird, Paul N., Tien-Yin Wong, Chinfsg-Yu Cheng, Yik Ying Teo, Mackey, David A., Cathy Williams, Seang-Mei Saw, Klaver, Caroline C. W., Guggenheim, Jeremy A., and Bailey-Wilson, Joan E.

48. Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

Author

Fan, Qiao, Pozarickij, Alfred, Tan, Nicholas YQ, Guo, Xiaobo, Verhoeven, Virginie JM, 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 EG, Enthoven, Clair A, Polling, JanRoelof, Consortium For Refractive Error And Myopia (CREAM), UK Biobank Eye And Vision Consortium, Hewitt, Alex W, Jaddoe, Vincent WV, 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 CW, Saw, Seang-Mei, Baird, Paul N, and Cheng, Ching-Yu

Subjects
genetic structures, Corneal Topography, Polymorphism, Single Nucleotide, Risk Assessment, eye diseases, White People, 3. Good health, Cornea, Axial Length, Eye, Refractometry, Phenotype, Asian People, Genetic Loci, Risk Factors, Databases, Genetic, Myopia, Humans, Gene Regulatory Networks, Genetic Predisposition to Disease, sense organs, 10. No inequality, Genome-Wide Association Study
Abstract

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 GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects on eye elongation. Implicated genes are involved in extracellular matrix organization, developmental process for body and eye, connective tissue cartilage and glycosylation protein activities. Our study provides insights into population-specific novel genes for corneal curvature, and their pleiotropic effect in regulating eye size or conferring susceptibility to myopia.

49. Time Spent Outdoors Partly Accounts for the Effect of Education on Myopia.

Author

Clark R, Kneepkens SCM, Plotnikov D, Shah RL, Huang Y, Tideman JWL, Klaver CCW, Atan D, Williams C, and Guggenheim JA

Subjects
Adolescent, Child, Humans, Young Adult, Educational Status, Longitudinal Studies, Risk Factors, Mendelian Randomization Analysis, Leisure Activities, Myopia epidemiology, Myopia genetics
Abstract

Purpose: The purpose of this study was to investigate if education contributes to the risk of myopia because educational activities typically occur indoors or because of other factors, such as prolonged near viewing., Methods: This was a two-sample Mendelian randomization study. Participants were from the UK Biobank, Avon Longitudinal Study of Parents and Children, and Generation R. Genetic variants associated with years spent in education or time spent outdoors were used as instrumental variables. The main outcome measures were: (1) spherical equivalent refractive error attained by adulthood, and (2) risk of an early age-of-onset of spectacle wear (EAOSW), defined as an age-of-onset of 15 years or below., Results: Time spent outdoors was found to have a small genetic component (heritability 9.8%) that tracked from childhood to adulthood. A polygenic score for time outdoors was associated with children's time outdoors; a polygenic score for years spent in education was inversely associated with children's time outdoors. Accounting for the relationship between time spent outdoors and myopia in a multivariable Mendelian randomization analysis reduced the size of the causal effect of more years in education on myopia to -0.17 diopters (D) per additional year of formal education (95% confidence interval [CI] = -0.32 to -0.01) compared with the estimate from a univariable Mendelian randomization analysis of -0.27 D per year (95% CI = -0.41 to -0.13). Comparable results were obtained for the outcome EAOSW., Conclusions: Accounting for the effects of time outdoors reduced the estimated causal effect of education on myopia by 40%. These results suggest about half of the relationship between education and myopia may be mediated by children not being outdoors during schooling.

Published
2023
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50. Genetic Variants Associated With Human Eye Size Are Distinct From Those Conferring Susceptibility to Myopia.

Author

Plotnikov D, Cui J, Clark R, Wedenoja J, Pärssinen O, Tideman JWL, Jonas JB, Wang Y, Rudan I, Young TL, Mackey DA, Terry L, Williams C, and Guggenheim JA

Subjects
Adolescent, Adult, Aged, Child, Female, Humans, Linkage Disequilibrium, Male, Middle Aged, Myopia diagnosis, Myopia physiopathology, Young Adult, Axial Length, Eye diagnostic imaging, Genetic Predisposition to Disease, Genome-Wide Association Study methods, Myopia genetics, Polymorphism, Single Nucleotide, Refraction, Ocular physiology
Abstract

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 size. Poorly coordinated scaling of corneal curvature and axial length results in refractive error. We tested the hypothesis that genetic variants regulating eye size in emmetropic eyes are distinct from those conferring susceptibility to refractive error., Methods: A genome-wide association study (GWAS) for corneal curvature in 22,180 adult emmetropic individuals was performed as a proxy for a GWAS for eye size. A polygenic score created using lead GWAS variants was tested for association with corneal curvature and axial length in an independent sample: 437 classified as emmetropic and 637 as ametropic. The genetic correlation between eye size and refractive error was calculated using linkage disequilibrium score regression for approximately 1 million genetic variants., Results: The GWAS for corneal curvature in emmetropes identified 32 independent genetic variants (P < 5.0e-08). A polygenic score created using these 32 genetic markers explained 3.5% (P < 0.001) and 2.0% (P = 0.001) of the variance in corneal curvature and axial length, respectively, in the independent sample of emmetropic individuals but was not predictive of these traits in ametropic individuals. The genetic correlation between eye size and refractive error was close to zero (rg = 0.00; SE = 0.06; P = 0.95)., Conclusions: These results support the hypothesis that genetic variants regulating eye size in emmetropic eyes do not overlap with those conferring susceptibility to myopia. This suggests that distinct biological pathways regulate normal eye growth and myopia development.

Published
2021
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