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1. A Web-Based Time-Use Application to Assess Diet and Movement Behavior in Asian Schoolchildren: Development and Usability Study of My E-Diary for Activities and Lifestyle (MEDAL)

Author

Chia, Airu, Chew, Muhammad Naeem Jia Sheng, Tan, Sarah Yi Xuan, Chan, Mei Jun, T Colega, Marjorelee, Toh, Jia Ying, Natarajan, Padmapriya, Lança, Carla, Shek, Lynette P, Saw, Seang-Mei, Müller-Riemenschneider, Falk, and Chong, Mary Foong-Fong

Subjects
Computer applications to medicine. Medical informatics, R858-859.7, Public aspects of medicine, RA1-1270
Abstract

BackgroundWeb-based time-use diaries for schoolchildren are limited, and existing studies focus mostly on capturing physical activities and sedentary behaviors but less comprehensively on dietary behaviors. ObjectiveThis study aims to describe the development of My E-Diary for Activities and Lifestyle (MEDAL)—a self-administered, web-based time-use application to assess diet and movement behavior—and to evaluate its usability in schoolchildren in Singapore. MethodsMEDAL was developed through formative research and an iterative user-centric design approach involving small groups of schoolchildren (ranging from n=5 to n=15, aged 7-13 years). To test the usability, children aged 10-11 years were recruited from 2 primary schools in Singapore to complete MEDAL for 2 weekdays and 2 weekend days and complete a 10-item usability questionnaire. ResultsThe development process revealed that younger children (aged

Published
2021
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3. Author Correction: Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes

Author

Bradfeld, Jonathan P., Kember, Rachel L., Ulrich, Anna, Balkhiyarova, Zhanna, Alyass, Akram, Aris, Izzuddin M., Bell, Joshua A., Broadaway, K. Alaine, Chen, Zhanghua, Chai, Jin-Fang, Davies, Neil M., Fernandez-Orth, Dietmar, Bustamante, Mariona, Fore, Ruby, Ganguli, Amitavo, Heiskala, Anni, Hottenga, Jouke-Jan, Íñiguez, Carmen, Kobes, Sayuko, Leinonen, Jaakko, Lowry, Estelle, Lyytikainen, Leo-Pekka, Mahajan, Anubha, Pitkänen, Niina, Schnurr, Theresia M., Have, Christian Theil, Strachan, David P., Thiering, Elisabeth, Vogelezang, Suzanne, Wade, Kaitlin H., Wang, Carol A., Wong, Andrew, Holm, Louise Aas, Chesi, Alessandra, Choong, Catherine, Cruz, Miguel, Elliott, Paul, Franks, Steve, Frithiof-Bøjsøe, Christine, Gauderman, W. James, Glessner, Joseph T., Gilsanz, Vicente, Griesman, Kendra, Hanson, Robert L., Kaakinen, Marika, Kalkwarf, Heidi, Kelly, Andrea, Kindler, Joseph, Kähönen, Mika, Lanca, Carla, Lappe, Joan, Lee, Nanette R., McCormack, Shana, Mentch, Frank D., Mitchell, Jonathan A., Mononen, Nina, Niinikoski, Harri, Oken, Emily, Pahkala, Katja, Sim, Xueling, Teo, Yik-Ying, Baier, Leslie J., van Beijsterveldt, Toos, Adair, Linda S., Boomsma, Dorret I., de Geus, Eco, Guxens, Mònica, Eriksson, Johan G., Felix, Janine F., Gilliland, Frank D., Hansen, Torben, Hardy, Rebecca, Hivert, Marie-France, Holm, Jens-Christian, Jaddoe, Vincent W. V., Järvelin, Marjo-Riitta, Lehtimäki, Terho, Mackey, David A., Meyre, David, Mohlke, Karen L., Mykkänen, Juha, Oberfeld, Sharon, Pennell, Craig E., Perry, John R. B., Raitakari, Olli, Rivadeneira, Fernando, Saw, Seang-Mei, Sebert, Sylvain, Shepherd, John A., Standl, Marie, Sørensen, Thorkild I. A., Timpson, Nicholas J., Torrent, Maties, Willemsen, Gonneke, Hypponen, Elina, Power, Chris, McCarthy, Mark I., Freathy, Rachel M., Widén, Elisabeth, Hakonarson, Hakon, Prokopenko, Inga, Voight, Benjamin F., Zemel, Babette S., Grant, Struan F. A., and Cousminer, Diana L.

Published
2024
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5. Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes

Author

Bradfield, Jonathan P., Kember, Rachel L., Ulrich, Anna, Balkhiyarova, Zhanna, Alyass, Akram, Aris, Izzuddin M., Bell, Joshua A., Broadaway, K. Alaine, Chen, Zhanghua, Chai, Jin-Fang, Davies, Neil M., Fernandez-Orth, Dietmar, Bustamante, Mariona, Fore, Ruby, Ganguli, Amitavo, Heiskala, Anni, Hottenga, Jouke-Jan, Íñiguez, Carmen, Kobes, Sayuko, Leinonen, Jaakko, Lowry, Estelle, Lyytikainen, Leo-Pekka, Mahajan, Anubha, Pitkänen, Niina, Schnurr, Theresia M., Have, Christian Theil, Strachan, David P., Thiering, Elisabeth, Vogelezang, Suzanne, Wade, Kaitlin H., Wang, Carol A., Wong, Andrew, Holm, Louise Aas, Chesi, Alessandra, Choong, Catherine, Cruz, Miguel, Elliott, Paul, Franks, Steve, Frithioff-Bøjsøe, Christine, Gauderman, W. James, Glessner, Joseph T., Gilsanz, Vicente, Griesman, Kendra, Hanson, Robert L., Kaakinen, Marika, Kalkwarf, Heidi, Kelly, Andrea, Kindler, Joseph, Kähönen, Mika, Lanca, Carla, Lappe, Joan, Lee, Nanette R., McCormack, Shana, Mentch, Frank D., Mitchell, Jonathan A., Mononen, Nina, Niinikoski, Harri, Oken, Emily, Pahkala, Katja, Sim, Xueling, Teo, Yik-Ying, Baier, Leslie J., van Beijsterveldt, Toos, Adair, Linda S., Boomsma, Dorret I., de Geus, Eco, Guxens, Mònica, Eriksson, Johan G., Felix, Janine F., Gilliland, Frank D., Biobank, Penn Medicine, Hansen, Torben, Hardy, Rebecca, Hivert, Marie-France, Holm, Jens-Christian, Jaddoe, Vincent W. V., Järvelin, Marjo-Riitta, Lehtimäki, Terho, Mackey, David A., Meyre, David, Mohlke, Karen L., Mykkänen, Juha, Oberfield, Sharon, Pennell, Craig E., Perry, John R. B., Raitakari, Olli, Rivadeneira, Fernando, Saw, Seang-Mei, Sebert, Sylvain, Shepherd, John A., Standl, Marie, Sørensen, Thorkild I. A., Timpson, Nicholas J., Torrent, Maties, Willemsen, Gonneke, Hypponen, Elina, Power, Chris, McCarthy, Mark I., Freathy, Rachel M., Widén, Elisabeth, Hakonarson, Hakon, Prokopenko, Inga, Voight, Benjamin F., Zemel, Babette S., Grant, Struan F. A., and Cousminer, Diana L.

Published
2024
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8. Posterior scleral birefringence measured by triple-input polarization-sensitive imaging as a biomarker of myopia progression

Author

Liu, Xinyu, Jiang, Liqin, Ke, Mengyuan, Sigal, Ian A., Chua, Jacqueline, Hoang, Quan V., Chia, Audrey WI., Najjar, Raymond P., Tan, Bingyao, Cheong, Jocelyn, Bellemo, Valentina, Chong, Rachel S., Girard, Michaël J. A., Ang, Marcus, Liu, Mengyang, Garhöfer, Gerhard, Barathi, Veluchamy A., Saw, Seang-Mei, Villiger, Martin, and Schmetterer, Leopold

Published
2023
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10. 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., Biino, Ginevra, Klein, Alison P., Duggal, Priya, Mackey, David A., Hayward, Caroline, Haller, Toomas, Metspalu, Andres, Wedenoja, Juho, Pärssinen, Olavi, Cheng, Ching-Yu, 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.

Published
2023
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13. New Polygenic Risk Score to Predict High Myopia in Singapore Chinese Children

Author

Lanca, Carla, Kassam, Irfahan, Patasova, Karina, Foo, Li-Lian, Li, Jonathan, Ang, Marcus, Hoang, Quan V, Teo, Yik-Ying, Hysi, Pirro G, and Saw, Seang-Mei

Subjects
Pediatric, Clinical Research, Prevention, Good Health and Well Being, Adolescent, Child, China, Cohort Studies, Humans, Myopia, Risk Factors, Singapore, high myopia, polygenic risk score, teenagers, East Asian, Biomedical Engineering, Opthalmology and Optometry
Abstract

PurposeThe purpose of this study was to develop an Asian polygenic risk score (PRS) to predict high myopia (HM) in Chinese children in the Singapore Cohort of Risk factors for Myopia (SCORM) cohort.MethodsWe included children followed from 6 to 11 years old until teenage years (12-18 years old). Cycloplegic autorefraction, ultrasound biometry, Illumina HumanHap 550, or 550 Duo Beadarrays, demographics, and environmental factors data were obtained. The PRS was generated from the Consortium for Refractive Error and Myopia genomewide association study (n = 542,934) and the Strabismus, Amblyopia, and Refractive Error in Singapore children Study (n = 500). The Growing Up in Singapore Towards healthy Outcomes Cohort study (n = 339) was the replication cohort. The outcome was teenage HM (≤ -5.00 D) with predictive performance assessed using the area under the curve (AUC).ResultsMean baseline age ± SD was 7.85 ± 0.84 (n = 1004) and 571 attended the teenage visit; 23.3% had HM. In multivariate analysis, the PRS was associated with a myopic spherical equivalent with an incremental R2 of 0.041 (95% confidence interval [CI] = 0.010, 0.073; P < 0.001). AUC for HM (0.77 [95% CI = 0.71-0.83]) performed better (P = 0.02) with the PRS compared with a model without (0.72 [95% CI = 0.65, 0.78]). Children at the top 25% PRS risk had a 2.34-fold-greater risk of HM (95% CI = 1.53, 3.55; P < 0.001).ConclusionsThe new Asian PRS improved the predictive performance to detect children at risk of HM.Translational relevanceClinicians may use the PRS with other predictive factors to identify high risk children and guide interventions to reduce the risk of HM later in life.

Published
2021

14. IMI Prevention of Myopia and Its Progression.

Author

Jonas, Jost, Ang, Marcus, Cho, Pauline, Guggenheim, Jeremy, He, Ming, Jong, Monica, Logan, Nicola, Liu, Maria, Morgan, Ian, Ohno-Matsui, Kyoko, Pärssinen, Olavi, Resnikoff, Serge, Sankaridurg, Padmaja, Saw, Seang-Mei, Smith, Earl, Tan, Donald, Walline, Jeffrey, Wildsoet, Christine, Wu, Pei-Chang, Zhu, Xiaoying, and Wolffsohn, James

Subjects
Accommodation, Ocular, Contact Lenses, Disease Progression, Eyeglasses, Global Health, Humans, Myopia, Prevalence, Refraction, Ocular
Abstract

The prevalence of myopia has markedly increased in East and Southeast Asia, and pathologic consequences of myopia, including myopic maculopathy and high myopia-associated optic neuropathy, are now some of the most common causes of irreversible blindness. Hence, strategies are warranted to reduce the prevalence of myopia and the progression to high myopia because this is the main modifiable risk factor for pathologic myopia. On the basis of published population-based and interventional studies, an important strategy to reduce the development of myopia is encouraging schoolchildren to spend more time outdoors. As compared with other measures, spending more time outdoors is the safest strategy and aligns with other existing health initiatives, such as obesity prevention, by promoting a healthier lifestyle for children and adolescents. Useful clinical measures to reduce or slow the progression of myopia include the daily application of low-dose atropine eye drops, in concentrations ranging between 0.01% and 0.05%, despite the side effects of a slightly reduced amplitude of accommodation, slight mydriasis, and risk of an allergic reaction; multifocal spectacle design; contact lenses that have power profiles that produce peripheral myopic defocus; and orthokeratology using corneal gas-permeable contact lenses that are designed to flatten the central cornea, leading to midperipheral steeping and peripheral myopic defocus, during overnight wear to eliminate daytime myopia. The risk-to-benefit ratio needs to be weighed up for the individual on the basis of their age, health, and lifestyle. The measures listed above are not mutually exclusive and are beginning to be examined in combination.

Published
2021

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

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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16. A five-safes approach to a secure and scalable genomics data repository

Author

Shih, Chih Chuan, Chen, Jieqi, Lee, Ai Shan, Bertin, Nicolas, Hebrard, Maxime, Khor, Chiea Chuen, Li, Zheng, Juan Tan, Joanna Hui, Meah, Wee Yang, Peh, Su Qin, Mok, Shi Qi, Sim, Kar Seng, Liu, Jianjun, Wang, Ling, Wong, Eleanor, Li, Jingmei, Tin, Aung, Cheng, Ching-Yu, Heng, Chew-Kiat, Yuan, Jian-Min, Koh, Woon-Puay, Saw, Seang Mei, Friedlander, Yechiel, Sim, Xueling, Chai, Jin Fang, Chong, Yap Seng, Davila, Sonia, Goh, Liuh Ling, Lee, Eng Sing, Wong, Tien Yin, Karnani, Neerja, Leong, Khai Pang, Yeo, Khung Keong, Chambers, John C., Lim, Su Chi, Goh, Rick Siow Mong, Tan, Patrick, and Dorajoo, Rajkumar

Published
2023
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21. Family-focused contextual factors associated with lifestyle patterns in young children from two mother-offspring cohorts: GUSTO and EDEN

Author

Chia, Airu, Descarpentrie, Alexandra, Cheong, Rene N., Toh, Jia Ying, Natarajan, Padmapriya, Sugianto, Ray, Cai, Shirong, Saldanha-Gomes, Cécilia, Dargent-Molina, Patricia, de Lauzon-Guillain, Blandine, Plancoulaine, Sabine, Lança, Carla, Saw, Seang Mei, Godfrey, Keith M., Shek, Lynette P., Tan, Kok Hian, Charles, Marie-Aline, Chong, Yap Seng, Heude, Barbara, Eriksson, Johan G., Müller-Riemenschneider, Falk, Lioret, Sandrine, Chong, Mary F.-F., and Bernard, Jonathan Y.

Published
2022
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22. Public Health Impact of Pathologic Myopia

Author

Wong, Yee Ling, Man, Ryan Eyn Kidd, Fenwick, Eva, Saw, Seang Mei, Wong, Chee Wai, Cheung, Chiu Ming Gemmy, Lamoureux, Ecosse L., Spaide, Richard F., editor, Ohno-Matsui, Kyoko, editor, and Yannuzzi, Lawrence A., editor

Published
2021
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26. Retinal photograph-based deep learning algorithms for myopia and a blockchain platform to facilitate artificial intelligence medical research: a retrospective multicohort study

Author

Tan, Tien-En, Anees, Ayesha, Chen, Cheng, Li, Shaohua, Xu, Xinxing, Li, Zengxiang, Xiao, Zhe, Yang, Yechao, Lei, Xiaofeng, Ang, Marcus, Chia, Audrey, Lee, Shu Yen, Wong, Edmund Yick Mun, Yeo, Ian Yew San, Wong, Yee Ling, Hoang, Quan V, Wang, Ya Xing, Bikbov, Mukharram M, Nangia, Vinay, Jonas, Jost B, Chen, Yen-Po, Wu, Wei-Chi, Ohno-Matsui, Kyoko, Rim, Tyler Hyungtaek, Tham, Yih-Chung, Goh, Rick Siow Mong, Lin, Haotian, Liu, Hanruo, Wang, Ningli, Yu, Weihong, Tan, Donald Tiang Hwee, Schmetterer, Leopold, Cheng, Ching-Yu, Chen, Youxin, Wong, Chee Wai, Cheung, Gemmy Chui Ming, Saw, Seang-Mei, Wong, Tien Yin, Liu, Yong, and Ting, Daniel Shu Wei

Published
2021
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27. Effects of Antenatal Maternal Depressive Symptoms and Socio-Economic Status on Neonatal Brain Development are Modulated by Genetic Risk

Author

Qiu, Anqi, Shen, Mojun, Buss, Claudia, Chong, Yap-Seng, Kwek, Kenneth, Saw, Seang-Mei, Gluckman, Peter D, Wadhwa, Pathik D, Entringer, Sonja, Styner, Martin, Karnani, Neerja, Heim, Christine M, O'Donnell, Kieran J, Holbrook, Joanna D, Fortier, Marielle V, and Meaney, Michael J

Subjects
Brain Disorders, Pediatric, Behavioral and Social Science, Mind and Body, Depression, Neurosciences, Mental Health, Aetiology, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Underpinning research, Mental health, Neurological, Reproductive health and childbirth, Good Health and Well Being, Asians, Brain, Brain Mapping, Cohort Studies, Computational Biology, Depressive Disorder, Major, Female, Fetal Development, Gene Regulatory Networks, Genotype, Gestational Age, Humans, Image Processing, Computer-Assisted, Infant, Newborn, Magnetic Resonance Imaging, Male, Maternal-Fetal Relations, Polymorphism, Single Nucleotide, Pregnancy, Prenatal Exposure Delayed Effects, Social Class, amygdala, cortical thickness, depression, morphological shape, polygenic risk score, the GUSTO study group, Asian People, Psychology, Cognitive Sciences, Experimental Psychology
Abstract

This study included 168 and 85 mother-infant dyads from Asian and United States of America cohorts to examine whether a genomic profile risk score for major depressive disorder (GPRSMDD) moderates the association between antenatal maternal depressive symptoms (or socio-economic status, SES) and fetal neurodevelopment, and to identify candidate biological processes underlying such association. Both cohorts showed a significant interaction between antenatal maternal depressive symptoms and infant GPRSMDD on the right amygdala volume. The Asian cohort also showed such interaction on the right hippocampal volume and shape, thickness of the orbitofrontal and ventromedial prefrontal cortex. Likewise, a significant interaction between SES and infant GPRSMDD was on the right amygdala and hippocampal volumes and shapes. After controlling for each other, the interaction effect of antenatal maternal depressive symptoms and GPRSMDD was mainly shown on the right amygdala, while the interaction effect of SES and GPRSMDD was mainly shown on the right hippocampus. Bioinformatic analyses suggested neurotransmitter/neurotrophic signaling, SNAp REceptor complex, and glutamate receptor activity as common biological processes underlying the influence of antenatal maternal depressive symptoms on fetal cortico-limbic development. These findings suggest gene-environment interdependence in the fetal development of brain regions implicated in cognitive-emotional function. Candidate biological mechanisms involve a range of brain region-specific signaling pathways that converge on common processes of synaptic development.

Published
2017

28. The longitudinal association between early-life screen viewing and abdominal adiposity—findings from a multiethnic birth cohort study

Author

Padmapriya, Natarajan, Tint, Mya-Thway, Sadananthan, Suresh Anand, Michael, Navin, Chen, Bozhi, Cai, Shirong, Toh, Jia Ying, Lanca, Carla, Tan, Kok Hian, Saw, Seang Mei, Shek, Lynette Pei-Chi, Chong, Yap Seng, Gluckman, Peter D., Lee, Yung Seng, Yap, Fabian, Fortier, Marielle V., Chong, Mary Foong-Fong, Godfrey, Keith M., Eriksson, Johan G., Velan, S. Sendhil, Kramer, Michael S., Bernard, Jonathan Y., and Müller-Riemenschneider, Falk

Published
2021
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30. Genome-Wide Association Study in Asians Identifies Novel Loci for High Myopia and Highlights a Nervous System Role in Its Pathogenesis

Author

Meguro, Akira, Yamane, Takahiro, Takeuchi, Masaki, Miyake, Masahiro, Fan, Qiao, Zhao, Wanting, Wang, I-Jong, Mizuki, Yuki, Yamada, Norihiro, Nomura, Naoko, Tsujikawa, Akitaka, Matsuda, Fumihiko, Hosoda, Yoshikatsu, Saw, Seang-Mei, Cheng, Ching-Yu, Tsai, Tzu-Hsun, Yoshida, Masao, Iijima, Yasuhito, Teshigawara, Takeshi, Okada, Eiichi, Ota, Masao, Inoko, Hidetoshi, and Mizuki, Nobuhisa

Published
2020
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31. Mendelian randomization analysis does not support causal associations of birth weight with hypertension risk and blood pressure in adulthood

Author

Zheng, Yan, Huang, Tao, Wang, Tiange, Mei, Zhendong, Sun, Zhonghan, Zhang, Tao, Ellervik, Christina, Chai, Jin-Fang, Sim, Xueling, van Dam, Rob M., Tai, E-Shyong, Koh, Woon-Puay, Dorajoo, Rajkumar, Saw, Seang-Mei, Sabanayagam, Charumathi, Wong, Tien Yin, Gupta, Preeti, Rossing, Peter, Ahluwalia, Tarunveer S., Vinding, Rebecca K., Bisgaard, Hans, Bønnelykke, Klaus, Wang, Yujie, Graff, Mariaelisa, Voortman, Trudy, van Rooij, Frank J. A., Hofman, Albert, van Heemst, Diana, Noordam, Raymond, Estampador, Angela C., Varga, Tibor V., Enzenbach, Cornelia, Scholz, Markus, Thiery, Joachim, Burkhardt, Ralph, Orho-Melander, Marju, Schulz, Christina-Alexandra, Ericson, Ulrika, Sonestedt, Emily, Kubo, Michiaki, Akiyama, Masato, Zhou, Ang, Kilpeläinen, Tuomas O., Hansen, Torben, Kleber, Marcus E., Delgado, Graciela, McCarthy, Mark, Lemaitre, Rozenn N., Felix, Janine F., Jaddoe, Vincent W. V., Wu, Ying, Mohlke, Karen L., Lehtimäki, Terho, Wang, Carol A., Pennell, Craig E., Schunkert, Heribert, Kessler, Thorsten, Zeng, Lingyao, Willenborg, Christina, Peters, Annette, Lieb, Wolfgang, Grote, Veit, Rzehak, Peter, Koletzko, Berthold, Erdmann, Jeanette, Munz, Matthias, Wu, Tangchun, He, Meian, Yu, Caizheng, Lecoeur, Cécile, Froguel, Philippe, Corella, Dolores, Moreno, Luis A., Lai, Chao-Qiang, Pitkänen, Niina, Boreham, Colin A., Ridker, Paul M., Rosendaal, Frits R., de Mutsert, Renée, Power, Chris, Paternoster, Lavinia, Sørensen, Thorkild I. A., Tjønneland, Anne, Overvad, Kim, Djousse, Luc, Rivadeneira, Fernando, Lee, Nanette R., Raitakari, Olli T., Kähönen, Mika, Viikari, Jorma, Langhendries, Jean-Paul, Escribano, Joaquin, Verduci, Elvira, Dedoussis, George, König, Inke, Balkau, Beverley, Coltell, Oscar, Dallongeville, Jean, Meirhaeghe, Aline, Amouyel, Philippe, Gottrand, Frédéric, Pahkala, Katja, Niinikoski, Harri, Hyppönen, Elina, März, Winfried, Mackey, David A., Gruszfeld, Dariusz, Tucker, Katherine L., Fumeron, Frédéric, Estruch, Ramon, Ordovas, Jose M., Arnett, Donna K., Mook-Kanamori, Dennis O., Mozaffarian, Dariush, Psaty, Bruce M., North, Kari E., Chasman, Daniel I., and Qi, Lu

Published
2020

32. Meta‐analysis of Genome‐Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

Author

Springelkamp, Henriët, Mishra, Aniket, Hysi, Pirro G, Gharahkhani, Puya, Höhn, René, Khor, Chiea‐Chuen, Bailey, Jessica N Cooke, Luo, Xiaoyan, Ramdas, Wishal D, Vithana, Eranga, Koh, Victor, Yazar, Seyhan, Xu, Liang, Forward, Hannah, Kearns, Lisa S, Amin, Najaf, Iglesias, Adriana I, Sim, Kar‐Seng, Leeuwen, Elisabeth M, Demirkan, Ayse, der Lee, Sven, Loon, Seng‐Chee, Rivadeneira, Fernando, Nag, Abhishek, Sanfilippo, Paul G, Schillert, Arne, de Jong, Paulus TVM, Oostra, Ben A, Uitterlinden, André G, Hofman, Albert, Consortium, NEIGHBORHOOD, Zhou, Tiger, Burdon, Kathryn P, Spector, Timothy D, Lackner, Karl J, Saw, Seang‐Mei, Vingerling, Johannes R, Teo, Yik‐Ying, Pasquale, Louis R, Wolfs, Roger CW, Lemij, Hans G, Tai, E‐Shyong, Jonas, Jost B, Cheng, Ching‐Yu, Aung, Tin, Jansonius, Nomdo M, Klaver, Caroline CW, Craig, Jamie E, Young, Terri L, Haines, Jonathan L, MacGregor, Stuart, Mackey, David A, Pfeiffer, Norbert, Wong, Tien‐Yin, Wiggs, Janey L, Hewitt, Alex W, Duijn, Cornelia M, and Hammond, Christopher J

Subjects
Aging, Human Genome, Eye Disease and Disorders of Vision, Genetics, Neurosciences, Neurodegenerative, Eye, Asian People, Genome-Wide Association Study, Glaucoma, Humans, Optic Disk, Optic Nerve Diseases, Quantitative Trait Loci, White People, NEIGHBORHOOD Consortium, GWAS, cup area, disc area, glaucoma, Public Health and Health Services, Epidemiology
Abstract

Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, which is a clinically used measurement, and may shed light on new glaucoma mechanisms. We identified 10 new loci associated with disc area (CDC42BPA, F5, DIRC3, RARB, ABI3BP, DCAF4L2, ELP4, TMTC2, NR2F2, and HORMAD2) and another 10 new loci associated with cup area (DHRS3, TRIB2, EFEMP1, FLNB, FAM101, DDHD1, ASB7, KPNB1, BCAS3, and TRIOBP). The new genes participate in a number of pathways and future work is likely to identify more functions related to the pathogenesis of glaucoma.

Published
2015

35. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.

Author

Springelkamp, Henriët, Höhn, René, Mishra, Aniket, Hysi, Pirro G, Khor, Chiea-Chuen, Loomis, Stephanie J, Bailey, Jessica N Cooke, Gibson, Jane, Thorleifsson, Gudmar, Janssen, Sarah F, Luo, Xiaoyan, Ramdas, Wishal D, Vithana, Eranga, Nongpiur, Monisha E, Montgomery, Grant W, Xu, Liang, Mountain, Jenny E, Gharahkhani, Puya, Lu, Yi, Amin, Najaf, Karssen, Lennart C, Sim, Kar-Seng, van Leeuwen, Elisabeth M, Iglesias, Adriana I, Verhoeven, Virginie JM, Hauser, Michael A, Loon, Seng-Chee, Despriet, Dominiek DG, Nag, Abhishek, Venturini, Cristina, Sanfilippo, Paul G, Schillert, Arne, Kang, Jae H, Landers, John, Jonasson, Fridbert, Cree, Angela J, van Koolwijk, Leonieke ME, Rivadeneira, Fernando, Souzeau, Emmanuelle, Jonsson, Vesteinn, Menon, Geeta, Blue Mountains Eye Study—GWAS group, Weinreb, Robert N, de Jong, Paulus TVM, Oostra, Ben A, Uitterlinden, André G, Hofman, Albert, Ennis, Sarah, Thorsteinsdottir, Unnur, Burdon, Kathryn P, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), Spector, Timothy D, Mirshahi, Alireza, Saw, Seang-Mei, Vingerling, Johannes R, Teo, Yik-Ying, Haines, Jonathan L, Wolfs, Roger CW, Lemij, Hans G, Tai, E-Shyong, Jansonius, Nomdo M, Jonas, Jost B, Cheng, Ching-Yu, Aung, Tin, Viswanathan, Ananth C, Klaver, Caroline CW, Craig, Jamie E, Macgregor, Stuart, Mackey, David A, Lotery, Andrew J, Stefansson, Kari, Bergen, Arthur AB, Young, Terri L, Wiggs, Janey L, Pfeiffer, Norbert, Wong, Tien-Yin, Pasquale, Louis R, Hewitt, Alex W, van Duijn, Cornelia M, and Hammond, Christopher J

Subjects
Blue Mountains Eye Study—GWAS group, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2, Optic Nerve, Optic Disk, Humans, Glaucoma, Case-Control Studies, Gene Expression Profiling, Gene Frequency, Genotype, Phenotype, Polymorphism, Single Nucleotide, Asian Continental Ancestry Group, European Continental Ancestry Group, Genome-Wide Association Study, Polymorphism, Single Nucleotide, Human Genome, Genetics, Neurodegenerative, Eye Disease and Disorders of Vision, Neurosciences, 2.1 Biological and endogenous factors, Eye
Abstract

Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.

Published
2014

37. Topical Atropine for Childhood Myopia Control

Author

Li, Yong, primary, Yip, Michelle, additional, Ning, Yilin, additional, Chung, Joey, additional, Toh, Angeline, additional, Leow, Cheryl, additional, Liu, Nan, additional, Ting, Daniel, additional, Schmetterer, Leopold, additional, Saw, Seang-Mei, additional, Jonas, Jost B., additional, Chia, Audrey, additional, and Ang, Marcus, additional

Published
2023
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39. Establishment of the nasal microbiota in the first 18 months of life: Correlation with early-onset rhinitis and wheezing

Author

Ta, Le Duc Huy, Yap, Gaik Chin, Tay, Carina Jing Xuan, Lim, Alicia Shi Min, Huang, Chiung-Hui, Chu, Collins Wenhan, De Sessions, Paola Florez, Shek, Lynette P., Goh, Anne, Van Bever, Hugo P.S., Teoh, Oon Hoe, Soh, Jian Yi, Thomas, Biju, Ramamurthy, Mahesh Babu, Goh, Daniel Y.T., Lay, Christophe, Soh, Shu-E, Chan, Yiong Huak, Saw, Seang-Mei, Kwek, Kenneth, Chong, Yap-Seng, Godfrey, Keith M., Hibberd, Martin Lloyd, and Lee, Bee Wah

Published
2018
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43. Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.

Author

Simpson, Claire L, Wojciechowski, Robert, Oexle, Konrad, Murgia, Federico, Portas, Laura, Li, Xiaohui, Verhoeven, Virginie JM, Vitart, Veronique, Schache, Maria, Hosseini, S Mohsen, Hysi, Pirro G, Raffel, Leslie J, Cotch, Mary Frances, Chew, Emily, Klein, Barbara EK, Klein, Ronald, Wong, Tien Yin, van Duijn, Cornelia M, Mitchell, Paul, Saw, Seang Mei, Fossarello, Maurizio, Wang, Jie Jin, DCCT/EDIC Research Group, Polašek, Ozren, Campbell, Harry, Rudan, Igor, Oostra, Ben A, Uitterlinden, André G, Hofman, Albert, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart C, Vingerling, Johannes R, Döring, Angela, Bettecken, Thomas, Bencic, Goran, Gieger, Christian, Wichmann, H-Erich, Wilson, James F, Venturini, Cristina, Fleck, Brian, Cumberland, Phillippa M, Rahi, Jugnoo S, Hammond, Chris J, Hayward, Caroline, Wright, Alan F, Paterson, Andrew D, Baird, Paul N, Klaver, Caroline CW, Rotter, Jerome I, Pirastu, Mario, Meitinger, Thomas, Bailey-Wilson, Joan E, and Stambolian, Dwight

Subjects
DCCT/EDIC Research Group, Eye, Humans, Hyperopia, Myopia, Genetic Predisposition to Disease, Genetic Markers, Age of Onset, Linkage Disequilibrium, Phenotype, Polymorphism, Single Nucleotide, Alleles, Adult, Aged, Aged, 80 and over, Middle Aged, European Continental Ancestry Group, Female, Male, Genetic Association Studies, and over, Polymorphism, Single Nucleotide, General Science & Technology
Abstract

Refractive error (RE) is a complex, multifactorial disorder characterized by a mismatch between the optical power of the eye and its axial length that causes object images to be focused off the retina. The two major subtypes of RE are myopia (nearsightedness) and hyperopia (farsightedness), which represent opposite ends of the distribution of the quantitative measure of spherical refraction. We performed a fixed effects meta-analysis of genome-wide association results of myopia and hyperopia from 9 studies of European-derived populations: AREDS, KORA, FES, OGP-Talana, MESA, RSI, RSII, RSIII and ERF. One genome-wide significant region was observed for myopia, corresponding to a previously identified myopia locus on 8q12 (p = 1.25×10(-8)), which has been reported by Kiefer et al. as significantly associated with myopia age at onset and Verhoeven et al. as significantly associated to mean spherical-equivalent (MSE) refractive error. We observed two genome-wide significant associations with hyperopia. These regions overlapped with loci on 15q14 (minimum p value = 9.11×10(-11)) and 8q12 (minimum p value 1.82×10(-11)) previously reported for MSE and myopia age at onset. We also used an intermarker linkage- disequilibrium-based method for calculating the effective number of tests in targeted regional replication analyses. We analyzed myopia (which represents the closest phenotype in our data to the one used by Kiefer et al.) and showed replication of 10 additional loci associated with myopia previously reported by Kiefer et al. This is the first replication of these loci using myopia as the trait under analysis. "Replication-level" association was also seen between hyperopia and 12 of Kiefer et al.'s published loci. For the loci that show evidence of association to both myopia and hyperopia, the estimated effect of the risk alleles were in opposite directions for the two traits. This suggests that these loci are important contributors to variation of refractive error across the distribution.

Published
2014

44. Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error

Author

Cheng, Ching-Yu, Schache, Maria, Ikram, M Kamran, Young, Terri L, Guggenheim, Jeremy A, Vitart, Veronique, MacGregor, Stuart, Verhoeven, Virginie JM, Barathi, Veluchamy A, Liao, Jiemin, Hysi, Pirro G, Bailey-Wilson, Joan E, St. Pourcain, Beate, Kemp, John P, McMahon, George, Timpson, Nicholas J, Evans, David M, Montgomery, Grant W, Mishra, Aniket, Wang, Ya Xing, Wang, Jie Jin, Rochtchina, Elena, Polasek, Ozren, Wright, Alan F, Amin, Najaf, van Leeuwen, Elisabeth M, Wilson, James F, Pennell, Craig E, van Duijn, Cornelia M, de Jong, Paulus TVM, Vingerling, Johannes R, Zhou, Xin, Chen, Peng, Li, Ruoying, Tay, Wan-Ting, Zheng, Yingfeng, Chew, Merwyn, Error and Myopia, Consortium for Refractive, Cohort, 1958 British Birth, Rahi, Jugnoo S, cohort, Aichi, Yoshimura, Nagahisa, Yamashiro, Kenji, Miyake, Masahiro, ALIENOR, Delcourt, Cécile, Maubaret, Cecilia, ALSPAC, Williams, Cathy, Northstone, Kate, Ring, Susan M, Davey-Smith, George, ANZRAG, Craig, Jamie E, Burdon, Kathryn P, Fogarty, Rhys D, AREDS1a, Iyengar, Sudha K, Igo, Robert P, Chew, Emily, Janmahasathian, Sarayut, AREDS1b, AREDS1c, Stambolian, Dwight, Wilson, Joan E Bailey, BATS, Lu, Yi, Study, Beijing Eye, Jonas, Jost B, Xu, Liang, Saw, Seang-Mei, BMES, Baird, Paul N, Mitchell, Paul, CIEMS, Nangia, Vinay, CROATIA-Korčula, Hayward, Caroline, CROATIA-Split, Campbell, Harry, CROATIA-Vis, Rudan, Igor, Vatavuk, Zoran, DCCT, Paterson, Andrew D, Hosseini, S Mohsen, GWAS, FECD Fuchs Dystrophy, Fondran, Jeremy R, Study, Myopia, Feng, Sheng, and Study, Erasmus Rucphen Family

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Allied Health and Rehabilitation Science, Health Sciences, Ophthalmology and Optometry, Human Genome, Eye Disease and Disorders of Vision, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Eye, Adolescent, Adult, Aged, Asian People, Axial Length, Eye, Eye Proteins, Female, Gene Expression, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Refractive Errors, Signal Transduction, White People, Consortium for Refractive Error and Myopia, Fuchs' Genetics Multi-Center Study Group, Wellcome Trust Case Control Consortium 2, Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions, and Complications Research Group, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Refractive errors are common eye disorders of public health importance worldwide. Ocular axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We conducted a meta-analysis of genome-wide association studies for AL, combining 12,531 Europeans and 8,216 Asians. We identified eight genome-wide significant loci for AL (RSPO1, C3orf26, LAMA2, GJD2, ZNRF3, CD55, MIP, and ALPPL2) and confirmed one previously reported AL locus (ZC3H11B). Of the nine loci, five (LAMA2, GJD2, CD55, ALPPL2, and ZC3H11B) were associated with refraction in 18 independent cohorts (n = 23,591). Differential gene expression was observed for these loci in minus-lens-induced myopia mouse experiments and human ocular tissues. Two of the AL genes, RSPO1 and ZNRF3, are involved in Wnt signaling, a pathway playing a major role in the regulation of eyeball size. This study provides evidence of shared genes between AL and refraction, but importantly also suggests that these traits may have unique pathways.

Published
2013

46. Genome-Wide Association Study of Retinopathy in Individuals without Diabetes

Author

Jensen, Richard A, Sim, Xueling, Li, Xiaohui, Cotch, Mary Frances, Ikram, M Kamran, Holliday, Elizabeth G, Eiriksdottir, Gudny, Harris, Tamara B, Jonasson, Fridbert, Klein, Barbara EK, Launer, Lenore J, Smith, Albert Vernon, Boerwinkle, Eric, Cheung, Ning, Hewitt, Alex W, Liew, Gerald, Mitchell, Paul, Wang, Jie Jin, Attia, John, Scott, Rodney, Glazer, Nicole L, Lumley, Thomas, McKnight, Barbara, Psaty, Bruce M, Taylor, Kent, Hofman, Albert, de Jong, Paulus TVM, Rivadeneira, Fernando, Uitterlinden, Andre G, Tay, Wan-Ting, Teo, Yik Ying, Seielstad, Mark, Liu, Jianjun, Cheng, Ching-Yu, Saw, Seang-Mei, Aung, Tin, Ganesh, Santhi K, O'Donnell, Christopher J, Nalls, Mike A, Wiggins, Kerri L, Kuo, Jane Z, team, The Blue Mountains Eye Study GWAS, Consortium, CKDGen, van Duijn, Cornelia M, Gudnason, Vilmundur, Klein, Ronald, Siscovick, David S, Rotter, Jerome I, Tai, E Shong, Vingerling, Johannes, and Wong, Tien Y

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Epidemiology, Health Sciences, Diabetes, Hypertension, Human Genome, 2.1 Biological and endogenous factors, Metabolic and endocrine, Aged, Aged, 80 and over, Female, Genome-Wide Association Study, Genotype, Histone Deacetylases, Humans, Male, Polymorphism, Single Nucleotide, Repressor Proteins, Retinal Diseases, Blue Mountains Eye Study GWAS Team, CKDGen Consortium, General Science & Technology
Abstract

BackgroundMild retinopathy (microaneurysms or dot-blot hemorrhages) is observed in persons without diabetes or hypertension and may reflect microvascular disease in other organs. We conducted a genome-wide association study (GWAS) of mild retinopathy in persons without diabetes.MethodsA working group agreed on phenotype harmonization, covariate selection and analytic plans for within-cohort GWAS. An inverse-variance weighted fixed effects meta-analysis was performed with GWAS results from six cohorts of 19,411 Caucasians. The primary analysis included individuals without diabetes and secondary analyses were stratified by hypertension status. We also singled out the results from single nucleotide polymorphisms (SNPs) previously shown to be associated with diabetes and hypertension, the two most common causes of retinopathy.ResultsNo SNPs reached genome-wide significance in the primary analysis or the secondary analysis of participants with hypertension. SNP, rs12155400, in the histone deacetylase 9 gene (HDAC9) on chromosome 7, was associated with retinopathy in analysis of participants without hypertension, -1.3±0.23 (beta ± standard error), p = 6.6×10(-9). Evidence suggests this was a false positive finding. The minor allele frequency was low (∼2%), the quality of the imputation was moderate (r(2) ∼0.7), and no other common variants in the HDAC9 gene were associated with the outcome. SNPs found to be associated with diabetes and hypertension in other GWAS were not associated with retinopathy in persons without diabetes or in subgroups with or without hypertension.ConclusionsThis GWAS of retinopathy in individuals without diabetes showed little evidence of genetic associations. Further studies are needed to identify genes associated with these signs in order to help unravel novel pathways and determinants of microvascular diseases.

Published
2013

47. Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.

Author

Fan, Qiao, Barathi, Veluchamy, Cheng, Ching-Yu, Zhou, Xin, Meguro, Akira, Nakata, Isao, Khor, Chiea-Chuen, Goh, Liang-Kee, Li, Yi-Ju, Lim, Wane, Ho, Candice, Hawthorne, Felicia, Zheng, Yingfeng, Chua, Daniel, Inoko, Hidetoshi, Yamashiro, Kenji, Ohno-Matsui, Kyoko, Matsuo, Keitaro, Matsuda, Fumihiko, Vithana, Eranga, Mizuki, Nobuhisa, Beuerman, Roger, Tai, E-Shyong, Yoshimura, Nagahisa, Aung, Tin, Young, Terri, Wong, Tien-Yin, Teo, Yik-Ying, Saw, Seang-Mei, and Seielstad, Mark

Subjects
Adult, Animals, Carrier Proteins, Cation Transport Proteins, Child, China, Chromosomes, Human, Pair 1, Disease Models, Animal, Female, Gene Expression, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Lysophospholipase, Male, Mice, Middle Aged, Myopia, Nuclear Proteins, Polymorphism, Single Nucleotide, RNA-Binding Proteins, Retina, Retinal Pigment Epithelium, Sclera, Zinc Transporter 8
Abstract

As one of the leading causes of visual impairment and blindness, myopia poses a significant public health burden in Asia. The primary determinant of myopia is an elongated ocular axial length (AL). Here we report a meta-analysis of three genome-wide association studies on AL conducted in 1,860 Chinese adults, 929 Chinese children, and 2,155 Malay adults. We identified a genetic locus on chromosome 1q41 harboring the zinc-finger 11B pseudogene ZC3H11B showing genome-wide significant association with AL variation (rs4373767, β = -0.16 mm per minor allele, P(meta) =2.69 × 10(-10)). The minor C allele of rs4373767 was also observed to significantly associate with decreased susceptibility to high myopia (per-allele odds ratio (OR) =0.75, 95% CI: 0.68-0.84, P(meta) =4.38 × 10(-7)) in 1,118 highly myopic cases and 5,433 controls. ZC3H11B and two neighboring genes SLC30A10 and LYPLAL1 were expressed in the human neural retina, retinal pigment epithelium, and sclera. In an experimental myopia mouse model, we observed significant alterations to gene and protein expression in the retina and sclera of the unilateral induced myopic eyes for the murine genes ZC3H11A, SLC30A10, and LYPLAL1. This supports the likely role of genetic variants at chromosome 1q41 in influencing AL variation and high myopia.

Published
2012

48. Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.

Author

Fan, Qiao, Zhou, Xin, Khor, Chiea-Chuen, Cheng, Ching-Yu, Goh, Liang-Kee, Sim, Xueling, Tay, Wan-Ting, Li, Yi-Ju, Ong, Rick Twee-Hee, Suo, Chen, Cornes, Belinda, Ikram, Mohammad Kamran, Chia, Kee-Seng, Seielstad, Mark, Liu, Jianjun, Vithana, Eranga, Young, Terri L, Tai, E-Shyong, Wong, Tien-Yin, Aung, Tin, Teo, Yik-Ying, and Saw, Seang-Mei

Subjects
Humans, Corneal Diseases, Refractive Errors, Astigmatism, Genetic Predisposition to Disease, Receptor, Platelet-Derived Growth Factor alpha, Case-Control Studies, Cohort Studies, Genotype, Polymorphism, Single Nucleotide, Adult, Aged, Aged, 80 and over, Middle Aged, Child, Child, Preschool, Infant, Asia, Male, Genome-Wide Association Study, and over, Preschool, Polymorphism, Single Nucleotide, Receptor, Platelet-Derived Growth Factor alpha, Genetics, Developmental Biology
Abstract

Corneal astigmatism refers to refractive abnormalities and irregularities in the curvature of the cornea, and this interferes with light being accurately focused at a single point in the eye. This ametropic condition is highly prevalent, influences visual acuity, and is a highly heritable trait. There is currently a paucity of research in the genetic etiology of corneal astigmatism. Here we report the results from five genome-wide association studies of corneal astigmatism across three Asian populations, with an initial discovery set of 4,254 Chinese and Malay individuals consisting of 2,249 cases and 2,005 controls. Replication was obtained from three surveys comprising of 2,139 Indians, an additional 929 Chinese children, and an independent 397 Chinese family trios. Variants in PDGFRA on chromosome 4q12 (lead SNP: rs7677751, allelic odds ratio = 1.26 (95% CI: 1.16-1.36), P(meta) = 7.87×10(-9)) were identified to be significantly associated with corneal astigmatism, exhibiting consistent effect sizes across all five cohorts. This highlights the potential role of variants in PDGFRA in the genetic etiology of corneal astigmatism across diverse Asian populations.

Published
2011

49. Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays

Author

Dellinger, Andrew E, Saw, Seang-Mei, Goh, Liang K, Seielstad, Mark, Young, Terri L, and Li, Yi-Ju

Subjects
Biological Sciences, Genetics, Human Genome, Algorithms, Computer Simulation, DNA Copy Number Variations, Female, Humans, Male, Myopia, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Environmental Sciences, Information and Computing Sciences, Developmental Biology, Biological sciences, Chemical sciences, Environmental sciences
Abstract

Determination of copy number variants (CNVs) inferred in genome wide single nucleotide polymorphism arrays has shown increasing utility in genetic variant disease associations. Several CNV detection methods are available, but differences in CNV call thresholds and characteristics exist. We evaluated the relative performance of seven methods: circular binary segmentation, CNVFinder, cnvPartition, gain and loss of DNA, Nexus algorithms, PennCNV and QuantiSNP. Tested data included real and simulated Illumina HumHap 550 data from the Singapore cohort study of the risk factors for Myopia (SCORM) and simulated data from Affymetrix 6.0 and platform-independent distributions. The normalized singleton ratio (NSR) is proposed as a metric for parameter optimization before enacting full analysis. We used 10 SCORM samples for optimizing parameter settings for each method and then evaluated method performance at optimal parameters using 100 SCORM samples. The statistical power, false positive rates, and receiver operating characteristic (ROC) curve residuals were evaluated by simulation studies. Optimal parameters, as determined by NSR and ROC curve residuals, were consistent across datasets. QuantiSNP outperformed other methods based on ROC curve residuals over most datasets. Nexus Rank and SNPRank have low specificity and high power. Nexus Rank calls oversized CNVs. PennCNV detects one of the fewest numbers of CNVs.

Published
2010

50. Axial length elongation profiles from 3 to 6 years in an Asian paediatric population: the Growing Up in Singapore Towards Healthy Outcomes birth cohort study (GUSTO)

Author

Chen, David Ziyou, primary, Wong, Charlene, additional, Lam, Janice Sing Harn, additional, Sun, Chen-Hsin, additional, Lai, Yien, additional, Koh, Victor Teck Chang, additional, Chong, Yap-Seng, additional, Saw, Seang-Mei, additional, Tham, Yih-Chung, additional, and Ngo, Cheryl, additional

Published
2023
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