19 results on '"Meah, Wee Yang"'
Search Results
2. 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
- Full Text
- View/download PDF
3. Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population
- Author
-
Chang, Xuling, Gurung, Resham L., Wang, Ling, Jin, Aizhen, Li, Zheng, Wang, Renwei, Beckman, Kenneth B., Adams-Haduch, Jennifer, Meah, Wee Yang, Sim, Kar Seng, Lim, Weng Khong, Davila, Sonia, Tan, Patrick, Teo, Jing Xian, Yeo, Khung Keong, M., Yiamunaa, Liu, Sylvia, Lim, Su Chi, Liu, Jianjun, van Dam, Rob M., Friedlander, Yechiel, Koh, Woon-Puay, Yuan, Jian-Min, Khor, Chiea Chuen, Heng, Chew-Kiat, and Dorajoo, Rajkumar
- Published
- 2021
- Full Text
- View/download PDF
4. A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome
- Author
-
Aung, Tin, Ozaki, Mineo, Mizoguchi, Takanori, Allingham, R Rand, Li, Zheng, Haripriya, Aravind, Nakano, Satoko, Uebe, Steffen, Harder, Jeffrey M, Chan, Anita SY, Lee, Mei Chin, Burdon, Kathryn P, Astakhov, Yury S, Abu-Amero, Khaled K, Zenteno, Juan C, Nilgün, Yildirim, Zarnowski, Tomasz, Pakravan, Mohammad, Safieh, Leen Abu, Jia, Liyun, Wang, Ya Xing, Williams, Susan, Paoli, Daniela, Schlottmann, Patricio G, Huang, Lulin, Sim, Kar Seng, Foo, Jia Nee, Nakano, Masakazu, Ikeda, Yoko, Kumar, Rajesh S, Ueno, Morio, Manabe, Shin-ichi, Hayashi, Ken, Kazama, Shigeyasu, Ideta, Ryuichi, Mori, Yosai, Miyata, Kazunori, Sugiyama, Kazuhisa, Higashide, Tomomi, Chihara, Etsuo, Inoue, Kenji, Ishiko, Satoshi, Yoshida, Akitoshi, Yanagi, Masahide, Kiuchi, Yoshiaki, Aihara, Makoto, Ohashi, Tsutomu, Sakurai, Toshiya, Sugimoto, Takako, Chuman, Hideki, Matsuda, Fumihiko, Yamashiro, Kenji, Gotoh, Norimoto, Miyake, Masahiro, Astakhov, Sergei Y, Osman, Essam A, Al-Obeidan, Saleh A, Owaidhah, Ohoud, Al-Jasim, Leyla, Shahwan, Sami Al, Fogarty, Rhys A, Leo, Paul, Yetkin, Yaz, Oğuz, Çilingir, Kanavi, Mozhgan Rezaei, Beni, Afsaneh Naderi, Yazdani, Shahin, Akopov, Evgeny L, Toh, Kai-Yee, Howell, Gareth R, Orr, Andrew C, Goh, Yufen, Meah, Wee Yang, Peh, Su Qin, Kosior-Jarecka, Ewa, Lukasik, Urszula, Krumbiegel, Mandy, Vithana, Eranga N, Wong, Tien Yin, Liu, Yutao, Koch, Allison E Ashley, Challa, Pratap, Rautenbach, Robyn M, Mackey, David A, Hewitt, Alex W, Mitchell, Paul, Wang, Jie Jin, Ziskind, Ari, Carmichael, Trevor, Ramakrishnan, Rangappa, Narendran, Kalpana, Venkatesh, Rangaraj, Vijayan, Saravanan, Zhao, Peiquan, Chen, Xueyi, Guadarrama-Vallejo, Dalia, Cheng, Ching Yu, Perera, Shamira A, Husain, Rahat, and Ho, Su-Ling
- Subjects
Biological Sciences ,Genetics ,Rare Diseases ,Human Genome ,Prevention ,2.1 Biological and endogenous factors ,Aetiology ,Animals ,Asian People ,Calcium Channels ,Case-Control Studies ,Chromosome Mapping ,Exfoliation Syndrome ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Glaucoma ,Open-Angle ,HEK293 Cells ,HeLa Cells ,Humans ,Japan ,MCF-7 Cells ,Mice ,Mice ,Inbred C57BL ,Polymorphism ,Single Nucleotide ,Tumor Cells ,Cultured ,Blue Mountains Eye Study GWAS Team ,Wellcome Trust Case Control Consortium 2 ,Hela Cells ,Medical and Health Sciences ,Developmental Biology ,Agricultural biotechnology ,Bioinformatics and computational biology - Abstract
Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) of 1,484 cases and 1,188 controls from Japan and followed up the most significant findings in a further 6,901 cases and 20,727 controls from 17 countries across 6 continents. We discovered a genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (odds ratio (OR) = 1.16, P = 3.36 × 10(-11)). Although we also confirmed overwhelming association at the LOXL1 locus, the key SNP marker (LOXL1 rs4886776) demonstrated allelic reversal depending on the ancestry group (Japanese: OR(A allele) = 9.87, P = 2.13 × 10(-217); non-Japanese: OR(A allele) = 0.49, P = 2.35 × 10(-31)). Our findings represent the first genetic locus outside of LOXL1 surpassing genome-wide significance for XFS and provide insight into the biology and pathogenesis of the disease.
- Published
- 2015
5. Genome-Wide Analysis of Protein-Coding Variants in Leprosy
- Author
-
Liu, Hong, Wang, Zhenzhen, Li, Yi, Yu, Gongqi, Fu, Xi’an, Wang, Chuan, Liu, Wenting, Yu, Yongxiang, Bao, Fangfang, Irwanto, Astrid, Liu, Jian, Chu, Tongsheng, Andiappan, Anand Kumar, Maurer-Stroh, Sebastian, Limviphuvadh, Vachiranee, Wang, Honglei, Mi, Zihao, Sun, Yonghu, Sun, Lele, Wang, Ling, Wang, Chaolong, You, Jiabao, Li, Jinghui, Foo, Jia Nee, Liany, Herty, Meah, Wee Yang, Niu, Guiye, Yue, Zhenhua, Zhao, Qing, Wang, Na, Yu, Meiwen, Yu, Wenjun, Cheng, Xiujun, Khor, Chiea Chuen, Sim, Kar Seng, Aung, Tin, Wang, Ningli, Wang, Deyun, Shi, Li, Ning, Yong, Zheng, Zhongyi, Yang, Rongde, Li, Jinlan, Yang, Jun, Yan, Liangbin, Shen, Jianping, Zhang, Guocheng, Chen, Shumin, Liu, Jianjun, and Zhang, Furen
- Published
- 2017
- Full Text
- View/download PDF
6. Genetic risk of extranodal natural killer T-cell lymphoma: a genome-wide association study
- Author
-
Li, Zheng, Xia, Yi, Feng, Li-Na, Chen, Jie-Rong, Li, Hong-Min, Cui, Jing, Cai, Qing-Qing, Sim, Kar Seng, Nairismägi, Maarja-Liisa, Laurensia, Yurike, Meah, Wee Yang, Liu, Wen-Sheng, Guo, Yun-Miao, Chen, Li-Zhen, Feng, Qi-Sheng, Pang, Chi Pui, Chen, Li Jia, Chew, Soo Hong, Ebstein, Richard P, Foo, Jia Nee, Liu, Jianjun, Ha, Jeslin, Khoo, Lay Poh, Chin, Suk Teng, Zeng, Yi-Xin, Aung, Tin, Chowbay, Balram, Diong, Colin Phipps, Zhang, Fen, Liu, Yan-Hui, Tang, Tiffany, Tao, Miriam, Quek, Richard, Mohamad, Farid, Tan, Soo Yong, Teh, Bin Tean, Ng, Siok Bian, Chng, Wee Joo, Ong, Choon Kiat, Okada, Yukinori, Raychaudhuri, Soumya, Lim, Soon Thye, Tan, Wen, Peng, Rou-Jun, Khor, Chiea Chuen, and Bei, Jin-Xin
- Published
- 2016
- Full Text
- View/download PDF
7. RAPTOR: A Five-Safes approach to a secure, cloud native and serverless genomics data repository
- Author
-
Shih, Chih Chuan, primary, Chen, Jieqi, additional, Lee, Ai Shan, additional, Bertin, Nicolas, additional, Hebrard, Maxime, additional, Khor, Chiea Chuen, additional, Li, Zheng, additional, Tan, Joanna Hui Juan, additional, Meah, Wee Yang, additional, Peh, Su Qin, additional, Mok, Shi Qi, additional, Sim, Kar Seng, additional, Liu, Jianjun, additional, Wang, Ling, additional, Wong, Eleanor, additional, Li, Jingmei, additional, Tin, Aung, additional, Cheng, Ching-Yu, additional, Heng, Chew-Kiat, additional, Yuan, Jian-Min, additional, Koh, Woon-Puay, additional, Saw, Seang Mei, additional, Friedlander, Yechiel, additional, Sim, Xueling, additional, Chai, Jin Fang, additional, Chong, Yap Seng, additional, Davila, Sonia, additional, Goh, Liuh Ling, additional, Lee, Eng Sing, additional, Wong, Tien Yin, additional, Karnani, Neerja, additional, Leong, Khai Pang, additional, Yeo, Khung Keong, additional, Chambers, John C, additional, Lim, Su Chi, additional, Goh, Rick Siow Mong, additional, Tan, Patrick, additional, and Dorajoo, Rajkumar, additional
- Published
- 2022
- Full Text
- View/download PDF
8. Genome-wide association study of Parkinson’s disease in East Asians
- Author
-
Foo, Jia Nee, Tan, Louis C., Irwan, Ishak D., Au, Wing-Lok, Low, Hui Qi, Prakash, Kumar-M., Ahmad-Annuar, Azlina, Bei, Jinxin, Chan, Anne YY, Chen, Chiung Mei, Chen, Yi-Chun, Chung, Sun Ju, Deng, Hao, Lim, Shen-Yang, Mok, Vincent, Pang, Hao, Pei, Zhong, Peng, Rong, Shang, Hui-Fang, Song, Kyuyoung, Tan, Ai Huey, Wu, Yih-Ru, Aung, Tin, Cheng, Ching-Yu, Chew, Fook Tim, Chew, Soo-Hong, Chong, Siow-Ann, Ebstein, Richard P., Lee, Jimmy, Saw, Seang-Mei, Seow, Adeline, Subramaniam, Mythily, Tai, E-Shyong, Vithana, Eranga N., Wong, Tien-Yin, Heng, Khai Koon, Meah, Wee-Yang, Khor, Chiea Chuen, Liu, Hong, Zhang, Furen, Liu, Jianjun, and Tan, Eng-King
- Published
- 2017
- Full Text
- View/download PDF
9. Ciprofloxacin plus gemcitabine-based chemotherapy in patients with metastatic pancreatic ductal adenocarcinoma: A pilot study of microbiome manipulation.
- Author
-
Cheo, Seng Wee, primary, Lee, Jonathan WJ, additional, Walsh, Robert John, additional, Sundar, Raghav, additional, Choo, Joan RE, additional, Chan, Gloria, additional, Yong, Wei-Peng, additional, Meah, Wee Yang, additional, Khor, Chiea Chuen, additional, and Chee, Cheng Ean, additional
- Published
- 2022
- Full Text
- View/download PDF
10. A common variant near TGFBR3 is associated with primary open angle glaucoma
- Author
-
Li, Zheng, Allingham, R. Rand, Nakano, Masakazu, Jia, Liyun, Chen, Yuhong, Ikeda, Yoko, Mani, Baskaran, Chen, Li-Jia, Kee, Changwon, Garway-Heath, David F., Sripriya, Sarangapani, Fuse, Nobuo, Abu-Amero, Khaled K., Huang, Chukai, Namburi, Prasanthi, Burdon, Kathryn, Perera, Shamira A., Gharahkhani, Puya, Lin, Ying, Ueno, Morio, Ozaki, Mineo, Mizoguchi, Takanori, Krishnadas, Subbiah Ramasamy, Osman, Essam A., Lee, Mei Chin, Chan, Anita S.Y., Tajudin, Liza-Sharmini A., Do, Tan, Goncalves, Aurelien, Reynier, Pascal, Zhang, Hong, Bourne, Rupert, Goh, David, Broadway, David, Husain, Rahat, Negi, Anil K., Su, Daniel H, Ho, Ching-Lin, Blanco, Augusto Azuara, Leung, Christopher K.S., Wong, Tina T., Yakub, Azhany, Liu, Yutao, Nongpiur, Monisha E., Han, Jong Chul, Hon, Do Nhu, Shantha, Balekudaru, Zhao, Bowen, Sang, Jinghong, Zhang, NiHong, Sato, Ryuichi, Yoshii, Kengo, Panda-Jonas, Songhomita, Ashley Koch, Allison E., Herndon, Leon W., Moroi, Sayoko E., Challa, Pratap, Foo, Jia Nee, Bei, Jin-Xin, Zeng, Yi-Xin, Simmons, Cameron P., Bich Chau, Tran Nguyen, Sharmila, Philomenadin Ferdinamarie, Chew, Merwyn, Lim, Blanche, Tam, Pansy O.S., Chua, Elaine, Ng, Xiao Yu, Yong, Victor H.K., Chong, Yaan Fun, Meah, Wee Yang, Vijayan, Saravanan, Seongsoo, Sohn, Xu, Wang, Teo, Yik Ying, Cooke Bailey, Jessica N., Kang, Jae H., Haines, Jonathan L., Cheng, Ching Yu, Saw, Seang-Mei, Tai, E-Shyong, Richards, Julia E., Ritch, Robert, Gaasterland, Douglas E., Pasquale, Louis R., Liu, Jianjun, Jonas, Jost B., Milea, Dan, George, Ronnie, Al-Obeidan, Saleh A., Mori, Kazuhiko, Macgregor, Stuart, Hewitt, Alex W., Girkin, Christopher A., Zhang, Mingzhi, Sundaresan, Periasamy, Vijaya, Lingam, Mackey, David A., Wong, Tien Yin, Craig, Jamie E., Sun, Xinghuai, Kinoshita, Shigeru, Wiggs, Janey L., Khor, Chiea-Chuen, Yang, Zhenglin, Pang, Chi Pui, Wang, Ningli, Hauser, Michael A., Tashiro, Kei, Aung, Tin, and Vithana, Eranga N.
- Published
- 2015
- Full Text
- View/download PDF
11. An integrative model of pathway convergence in genetically heterogeneous blast crisis chronic myeloid leukemia
- Author
-
Ko, Tun Kiat, primary, Javed, Asif, primary, Lee, Kian Leong, primary, Pathiraja, Thushangi N., primary, Liu, Xingliang, primary, Malik, Simeen, primary, Soh, Sheila Xinxuan, primary, Heng, Xiu Ting, primary, Takahashi, Naoto, primary, Tan, Joanna H. J., primary, Bhatia, Ravi, primary, Khng, Alexis J., primary, Chng, Wee-Joo, primary, Sia, Yee Yen, primary, Fruman, David A., primary, Ng, King Pan, primary, Chan, Zhu En, primary, Xie, Kim Jiajing, primary, Hoi, Qiangze, primary, Chan, Cheryl Xueli, primary, Teo, Audrey S. M., primary, Velazquez Camacho, Oscar, primary, Meah, Wee Yang, primary, Khor, Chiea Chuen, primary, Ong, Chin Thing J., primary, Soon, Wei Jia W., primary, Tan, Patrick, primary, Ng, Pauline C., primary, Chuah, Charles, primary, Hillmer, Axel M., primary, and Ong, S. Tiong, primary
- Published
- 2020
- Full Text
- View/download PDF
12. Identification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans
- Author
-
Foo, Jia Nee, primary, Chew, Elaine Guo Yan, additional, Chung, Sun Ju, additional, Peng, Rong, additional, Blauwendraat, Cornelis, additional, Nalls, Mike A., additional, Mok, Kin Y., additional, Satake, Wataru, additional, Toda, Tatsushi, additional, Chao, Yinxia, additional, Tan, Louis C. S., additional, Tandiono, Moses, additional, Lian, Michelle M., additional, Ng, Ebonne Y., additional, Prakash, Kumar-M., additional, Au, Wing-Lok, additional, Meah, Wee-Yang, additional, Mok, Shi Qi, additional, Annuar, Azlina Ahmad, additional, Chan, Anne Y. Y., additional, Chen, Ling, additional, Chen, Yongping, additional, Jeon, Beom S., additional, Jiang, Lulu, additional, Lim, Jia Lun, additional, Lin, Juei-Jueng, additional, Liu, Chunfeng, additional, Mao, Chengjie, additional, Mok, Vincent, additional, Pei, Zhong, additional, Shang, Hui-Fang, additional, Shi, Chang-He, additional, Song, Kyuyoung, additional, Tan, Ai Huey, additional, Wu, Yih-Ru, additional, Xu, Yu-ming, additional, Xu, Renshi, additional, Yan, Yaping, additional, Yang, Jing, additional, Zhang, BaoRong, additional, Koh, Woon-Puay, additional, Lim, Shen-Yang, additional, Khor, Chiea Chuen, additional, Liu, Jianjun, additional, and Tan, Eng-King, additional
- Published
- 2020
- Full Text
- View/download PDF
13. Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore
- Author
-
Wu, Degang, primary, Dou, Jinzhuang, additional, Chai, Xiaoran, additional, Bellis, Claire, additional, Wilm, Andreas, additional, Shih, Chih Chuan, additional, Soon, Wendy Wei Jia, additional, Bertin, Nicolas, additional, Lin, Clarabelle Bitong, additional, Khor, Chiea Chuen, additional, DeGiorgio, Michael, additional, Cheng, Shanshan, additional, Bao, Li, additional, Karnani, Neerja, additional, Hwang, William Ying Khee, additional, Davila, Sonia, additional, Tan, Patrick, additional, Shabbir, Asim, additional, Moh, Angela, additional, Tan, Eng-King, additional, Foo, Jia Nee, additional, Goh, Liuh Ling, additional, Leong, Khai Pang, additional, Foo, Roger S.Y., additional, Lam, Carolyn Su Ping, additional, Richards, Arthur Mark, additional, Cheng, Ching-Yu, additional, Aung, Tin, additional, Wong, Tien Yin, additional, Ng, Huck Hui, additional, Liu, Jianjun, additional, Wang, Chaolong, additional, Ackers-Johnson, Matthew Andrew, additional, Aliwarga, Edita, additional, Ban, Kenneth Hon Kim, additional, Bertrand, Denis, additional, Chambers, John C., additional, Chan, Dana Leng Hui, additional, Chan, Cheryl Xue Li, additional, Chee, Miao Li, additional, Chee, Miao Ling, additional, Chen, Pauline, additional, Chen, Yunxin, additional, Chew, Elaine Guo Yan, additional, Chew, Wen Jie, additional, Chiam, Lynn Hui Yun, additional, Chong, Jenny Pek Ching, additional, Chua, Ivan, additional, Cook, Stuart A., additional, Dai, Wei, additional, Dorajoo, Rajkumar, additional, Foo, Chuan-Sheng, additional, Goh, Rick Siow Mong, additional, Hillmer, Axel M., additional, Irwan, Ishak D., additional, Jaufeerally, Fazlur, additional, Javed, Asif, additional, Jeyakani, Justin, additional, Koh, John Tat Hung, additional, Koh, Jia Yu, additional, Krishnaswamy, Pavitra, additional, Kuan, Jyn Ling, additional, Kumari, Neelam, additional, Lee, Ai Shan, additional, Lee, Seow Eng, additional, Lee, Sheldon, additional, Lee, Yen Ling, additional, Leong, See Ting, additional, Li, Zheng, additional, Li, Peter Yiqing, additional, Liew, Jun Xian, additional, Liew, Oi Wah, additional, Lim, Su Chi, additional, Lim, Weng Khong, additional, Lim, Chia Wei, additional, Lim, Tingsen Benson, additional, Lim, Choon Kiat, additional, Loh, Seet Yoong, additional, Lok, Au Wing, additional, Chin, Calvin W.L., additional, Majithia, Shivani, additional, Maurer-Stroh, Sebastian, additional, Meah, Wee Yang, additional, Mok, Shi Qi, additional, Nargarajan, Niranjan, additional, Ng, Pauline, additional, Ng, Sarah B., additional, Ng, Zhenyuan, additional, Ng, Jessica Yan Xia, additional, Ng, Ebonne, additional, Ng, Shi Ling, additional, Nusinovici, Simon, additional, Ong, Chin Thing, additional, Pan, Bangfen, additional, Pedergnana, Vincent, additional, Poh, Stanley, additional, Prabhakar, Shyam, additional, Prakash, Kumar M., additional, Quek, Ivy, additional, Sabanayagam, Charumathi, additional, See, Wei Qiang, additional, Sia, Yee Yen, additional, Sim, Xueling, additional, Sim, Wey Cheng, additional, So, Jimmy, additional, Soon, Dinna K.N., additional, Tai, E. Shyong, additional, Tan, Nicholas Y., additional, Tan, Louis C.S., additional, Tan, Hong Chang, additional, Tan, Wilson Lek Wen, additional, Tandiono, Moses, additional, Tay, Amanda, additional, Thakur, Sahil, additional, Tham, Yih Chung, additional, Tiang, Zenia, additional, Toh, Grace Li-Xian, additional, Tsai, Pi Kuang, additional, Veeravalli, Lavanya, additional, Verma, Chandra S., additional, Wang, Ling, additional, Wang, Min Rui, additional, Wong, Wing-Cheong, additional, Xie, Zhicheng, additional, Yeo, Khung Keong, additional, Zhang, Liang, additional, Zhai, Weiwei, additional, and Zhao, Yi, additional
- Published
- 2019
- Full Text
- View/download PDF
14. Loci for human leukocyte telomere length in the Singaporean Chinese population and trans-ethnic genetic studies
- Author
-
Dorajoo, Rajkumar, primary, Chang, Xuling, additional, Gurung, Resham Lal, additional, Li, Zheng, additional, Wang, Ling, additional, Wang, Renwei, additional, Beckman, Kenneth B., additional, Adams-Haduch, Jennifer, additional, M, Yiamunaa, additional, Liu, Sylvia, additional, Meah, Wee Yang, additional, Sim, Kar Seng, additional, Lim, Su Chi, additional, Friedlander, Yechiel, additional, Liu, Jianjun, additional, van Dam, Rob M., additional, Yuan, Jian-Min, additional, Koh, Woon-Puay, additional, Khor, Chiea Chuen, additional, and Heng, Chew-Kiat, additional
- Published
- 2019
- Full Text
- View/download PDF
15. Genome-wide association study of Parkinson’s disease in East Asians
- Author
-
Foo, Jia Nee, primary, Tan, Louis C., additional, Irwan, Ishak D., additional, Au, Wing-Lok, additional, Low, Hui Qi, additional, Prakash, Kumar-M., additional, Ahmad-Annuar, Azlina, additional, Bei, Jinxin, additional, Chan, Anne YY, additional, Chen, Chiung Mei, additional, Chen, Yi-Chun, additional, Chung, Sun Ju, additional, Deng, Hao, additional, Lim, Shen-Yang, additional, Mok, Vincent, additional, Pang, Hao, additional, Pei, Zhong, additional, Peng, Rong, additional, Shang, Hui-Fang, additional, Song, Kyuyoung, additional, Tan, Ai Huey, additional, Wu, Yih-Ru, additional, Aung, Tin, additional, Cheng, Ching-Yu, additional, Chew, Fook Tim, additional, Chew, Soo-Hong, additional, Chong, Siow-Ann, additional, Ebstein, Richard P, additional, Lee, Jimmy, additional, Saw, Seang-Mei, additional, Seow, Adeline, additional, Subramaniam, Mythily, additional, Tai, E-Shyong, additional, Vithana, Eranga N, additional, Wong, Tien-Yin, additional, Heng, Khai Koon, additional, Meah, Wee-Yang, additional, Khor, Chiea Chuen, additional, Liu, Hong, additional, Zhang, Furen, additional, Liu, Jianjun, additional, and Tan, Eng-King, additional
- Published
- 2016
- Full Text
- View/download PDF
16. Erratum: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome (Nature Genetics (2015) 47 (387-392))
- Author
-
Aung, Tin, Ozaki, Mineo, Mizoguchi, Takanori, Allingham, R. Rand, Zheng, Li, Haripriya, Aravind, Nakano, Satoko, Uebe, Steffen, Harder, Jeffrey M., Chan, Anita S. Y., Lee, Mei Chin, Burdon, Kathryn P., Astakhov, Yury S., Abu Amero, Khaled K., Zenteno, Juan C., Nilgün, Yildirim, Zarnowski, Tomasz, Pakravan, Mohammad, Safieh, Leen Abu, Jia, Liyun, Wang, Ya Xing, Williams, Susan, Paoli, Daniela, Schlottmann, Patricio G., Huang, Lulin, Sim, Kar Seng, Foo, Jia Nee, Nakano, Masakazu, Ikeda, Yoko, Kumar, Rajesh S., Ueno, Morio, Manabe, Shin Ichi, Hayashi, Ken, Kazama, Shigeyasu, Ideta, Ryuichi, Mori, Yosai, Miyata, Kazunori, Sugiyama, Kazuhisa, Higashide, Tomomi, Chihara, Etsuo, Inoue, Kenji, Ishiko, Satoshi, Yoshida, Akitoshi, Yanagi, Masahide, Kiuchi, Yoshiaki, Aihara, Makoto, Ohashi, Tsutomu, Sakurai, Toshiya, Sugimoto, Takako, Chuman, Hideki, Matsuda, Fumihiko, Yamashiro, Kenji, Gotoh, Norimoto, Miyake, Masahiro, Astakhov, Sergei Y., Osman, Essam A., Al Obeidan, Saleh A., Owaidhah, Ohoud, Al Jasim, Leyla, Shahwan, Sami Al, Fogarty, Rhys A., Leo, Paul, Yetkin, Yaz, Oaiuz, Çilingir, Kanavi, Mozhgan Rezaei, Beni, Afsaneh Naderi, Yazdani, Shahin, Akopov, Evgeny L., Toh, Kai Yee, Howell, Gareth R., Orr, Andrew C., Goh, Yufen, Meah, Wee Yang, Peh, Su Qin, Kosior Jarecka, Ewa, Lukasik, Urszula, Krumbiegel, Mandy, Vithana, Eranga N., Wong, Tien Yin, Liu, Yutao, Koch, Allison E. Ashley, Challa, Pratap, Rautenbach, Robyn M., Mackey, David A., Hewitt, Alex W., Mitchell, Paul, Wang, Jie Jin, Ziskind, Ari, Carmichael, Trevor, Ramakrishnan, Rangappa, Narendran, Kalpana, Venkatesh, Rangaraj, Vijayan, Saravanan, Zhao, Peiquan, Chen, Xueyi, Guadarrama Vallejo, Dalia, Cheng, Ching Yu, Perera, Shamira A., Husain, Rahat, Su Ling, Ho, Welge Luessen, Ulrich Christoph, Mardin, Christian, Schloetzer Schrehardt, Ursula, Hillmer, Axel M., Herms, Stefan, Moebus, Susanne, Nöthen, Markus M., Weisschuh, Nicole, Shetty, Rohit, Ghosh, Arkasubhra, Teo, Yik Ying, Brown, Matthew A., Lischinsky, Ignacio, Crowston, Jonathan G., Coote, Michae, Zhao, Bowen, Sang, Jinghong, Zhang, Nihong, You, Qisheng, Vysochinskaya, Vera, Founti, Panayiota, Chatzikyriakidou, Anthoula, Lambropoulos, Alexandros, Anastasopoulos, Eleftherios, Coleman, Anne L., Wilson, M. Roy, Rhee, Douglas J., Kang, Jae Hee, May Bolchakova, Inna, Heegaard, Steffen, Mori, Kazuhiko, Alward, Wallace L. M., Jonas, Jost B., Liang, Xu, Liebmann, Jeffrey M., Chowbay, Balram, Schaeffeler, Elke, Schwab, Matthias, Lerner, Fabian, Wang, Ningli, Yang, Zhenglin, Frezzotti, Paolo, Kinoshita, Shigeru, Fingert, John H., Inatani, Masaru, Tashiro, Kei, Reis, André, Edward, Deepak P., Pasquale, Louis R., Kubota, Toshiaki, Wiggs, Janey L., Pasutto, Francesca, Topouzis, Fotis, Dubina, Michael, Craig, Jamie E., Yoshimura, Nagahisa, Sundaresan, Periasamy, John, Simon W. M., Ritch, Robert, Hauser, Michael A., and Khor, Chiea Chuen
- Subjects
Genetics - Published
- 2015
17. A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome
- Author
-
Aung, Tin, Ozaki, Mineo, Mizoguchi, Takanori, Allingham, R Rand, Li, Zheng, Haripriya, Aravind, Nakano, Satoko, Uebe, Steffen, Harder, Jeffrey M, Chan, Anita S Y, Lee, Mei Chin, Burdon, Kathryn P, Astakhov, Yury S, Abu-Amero, Khaled K, Zenteno, Juan C, Nilgün, Yildirim, Zarnowski, Tomasz, Pakravan, Mohammad, Safieh, Leen Abu, Jia, Liyun, Wang, Ya Xing, Williams, Susan, Paoli, Daniela, Schlottmann, Patricio G, Huang, Lulin, Sim, Kar Seng, Foo, Jia Nee, Nakano, Masakazu, Ikeda, Yoko, Kumar, Rajesh S, Ueno, Morio, Manabe, Shin-ichi, Hayashi, Ken, Kazama, Shigeyasu, Ideta, Ryuichi, Mori, Yosai, Miyata, Kazunori, Sugiyama, Kazuhisa, Higashide, Tomomi, Chihara, Etsuo, Inoue, Kenji, Ishiko, Satoshi, Yoshida, Akitoshi, Yanagi, Masahide, Kiuchi, Yoshiaki, Aihara, Makoto, Ohashi, Tsutomu, Sakurai, Toshiya, Sugimoto, Takako, Chuman, Hideki, Matsuda, Fumihiko, Yamashiro, Kenji, Gotoh, Norimoto, Miyake, Masahiro, Astakhov, Sergei Y, Osman, Essam A, Al-Obeidan, Saleh A, Owaidhah, Ohoud, Al-Jasim, Leyla, Al Shahwan, Sami, Fogarty, Rhys A, Leo, Paul, Yetkin, Yaz, Oguz, Çilingir, Kanavi, Mozhgan Rezaei, Beni, Afsaneh Nederi, Yazdani, Shahin, Akopov, Evgeny L, Toh, Kai-Yee, Howell, Gareth R, Orr, Andrew C, Goh, Yufen, Meah, Wee Yang, Peh, Su Qin, Kosior-Jarecka, Ewa, Lukasik, Urszula, Krumbiegel, Mandy, Vithana, Eranga N, Wong, Tien Yin, Liu, Yutao, Koch, Allison E Ashley, Challa, Pratap, Rautenbach, Robyn M, Mackey, David A, Hewitt, Alex W, Mitchell, Paul, Wang, Jie Jin, Ziskind, Ari, Carmichael, Trevor, Ramakrishnan, Rangappa, Narendran, Kalpana, Venkatesh, Rangaraj, Vijayan, Saravanan, Zhao, Peiquan, Chen, Xueyi, Guadarrama-Vallejo, Dalia, Cheng, Ching Yu, Perera, Shamira A, Husain, Rahat, Ho, Su-Ling, Welge-Luessen, Ulrich-Christoph, Mardin, Christian, Schloetzer-Schrehardt, Ursula, Hillmer, Axel M, Herms, Stefan, Moebus, Susanne, Nöthen, Markus M, Weisschuh, Nicole, Shetty, Rohit, Ghosh, Arkasubhra, Teo, Yik Ying, Brown, Matthew A, Lischinsky, Ignacio, Crowston, Jonathan G, Coote, Michael, Zhao, Bowen, Sang, Jinghong, Zhang, Nihong, You, Qisheng, Vysochinskaya, Vera, Founti, Panayiota, Chatzikyriakidou, Anthoula, Lambropoulos, Alexandros, Anastasopoulos, Eleftherios, Coleman, Anne L, Wilson, M Roy, Rhee, Douglas J, Kang, Jae Hee, May-Bolchakova, Inna, Heegaard, Steffen, Mori, Kazuhiko, Alward, Wallace L M, Jonas, Jost B, Xu, Liang, Liebmann, Jeffrey M, Chowbay, Balram, Schaeffeler, Elke, Schwab, Matthias, Lerner, Fabian, Wang, Ningli, Yang, Zhenglin, Frezzotti, Paolo, Kinoshita, Shigeru, Fingert, John H, Inatani, Masaru, Tashiro, Kei, Reis, André, Edward, Deepak P, Pasquale, Louis R, Kubota, Toshiaki, Wiggs, Janey L, Pasutto, Francesca, Topouzis, Fotis, Dubina, Michael, Craig, Jamie E, Yoshimura, Nagahisa, Sundaresan, Periasamy, John, Simon W M, Ritch, Robert, Hauser, Michael A, Khor, Chiea-Chuen, Rochtchina, Elena, Viswanathan, Ananth C, Wong, Tien Y, Xie, Jing, Sim, Xueling, Inouye, Michael, Holliday, Elizabeth G, Attia, John, Scott, Rodney J, Baird, Paul N, Donnelly, Peter, Barroso, Ines, Blackwell, Jenefer M, Bramon, Elvira, Casas, Juan P, Corvin, Aiden, Deloukas, Panos, Duncanson, Audrey, Jankowski, Janusz, Markus, Hugh S, Mathew, Christopher G, Palmer, Colin N A, Plomin, Robert, Rautanen, Anna, Sawcer, Stephen J, Trembath, Richard C, Wood, Nicholas W, Spencer, Chris C A, Band, Gavin, Bellenguez, Céline, Freeman, Colin, Hellenthal, Garrett, Giannoulatou, Eleni, Pirinen, Matti, Pearson, Richard, Strange, Amy, Su, Zhan, Vukcevic, Damjan, Langford, Cordelia, Hunt, Sarah E, Edkins, Sarah, Gwilliam, Rhian, Blackburn, Hannah, Bumpstead, Suzannah J, Dronov, Serge, Gillman, Matthew, Gray, Emma, Hammond, Naomi, Jayakumar, Alagurevathi, McCann, Owen T, Liddle, Jennifer, Potter, Simon C, Ravindrarajah, Radhi, Ricketts, Michelle, Waller, Matthew, Weston, Paul, Widaa, Sara, and Whittaker, Pamela
- Subjects
Asian Continental Ancestry Group ,Pseudoexfoliation syndrome ,Medizin ,Locus (genetics) ,Genome-wide association study ,Biology ,Inbred C57BL ,Exfoliation Syndrome ,Polymorphism, Single Nucleotide ,Article ,Mice ,Animals ,Calcium Channels ,Case-Control Studies ,Chromosome Mapping ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Glaucoma, Open-Angle ,HEK293 Cells ,HeLa Cells ,Humans ,Japan ,MCF-7 Cells ,Mice, Inbred C57BL ,Tumor Cells, Cultured ,Genetics ,Asian People ,medicine ,SNP ,Allele ,Polymorphism ,Cultured ,Case-control study ,Glaucoma ,Odds ratio ,Single Nucleotide ,medicine.disease ,eye diseases ,Tumor Cells ,Open-Angle ,Etiology - Abstract
Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) of 1,484 cases and 1,188 controls from Japan and followed up the most significant findings in a further 6,901 cases and 20,727 controls from 17 countries across 6 continents. We discovered a genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (odds ratio (OR) = 1.16, P = 3.36 × 10(-11)). Although we also confirmed overwhelming association at the LOXL1 locus, the key SNP marker (LOXL1 rs4886776) demonstrated allelic reversal depending on the ancestry group (Japanese: OR(A allele) = 9.87, P = 2.13 × 10(-217); non-Japanese: OR(A allele) = 0.49, P = 2.35 × 10(-31)). Our findings represent the first genetic locus outside of LOXL1 surpassing genome-wide significance for XFS and provide insight into the biology and pathogenesis of the disease.
- Published
- 2014
18. Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye.
- Author
-
Li Z, Wang Z, Lee MC, Zenkel M, Peh E, Ozaki M, Topouzis F, Nakano S, Chan A, Chen S, Williams SEI, Orr A, Nakano M, Kobakhidze N, Zarnowski T, Popa-Cherecheanu A, Mizoguchi T, Manabe SI, Hayashi K, Kazama S, Inoue K, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Ideta R, Ishiko S, Yoshida A, Tokumo K, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Mori K, Ikeda Y, Ueno M, Gaston D, Rafuse P, Shuba L, Saunders J, Nicolela M, Chichua G, Tabagari S, Founti P, Sim KS, Meah WY, Soo HM, Chen XY, Chatzikyriakidou A, Keskini C, Pappas T, Anastasopoulos E, Lambropoulos A, Panagiotou ES, Mikropoulos DG, Kosior-Jarecka E, Cheong A, Li Y, Lukasik U, Nongpiur ME, Husain R, Perera SA, Álvarez L, García M, González-Iglesias H, Fernández-Vega Cueto A, Fernández-Vega Cueto L, Martinón-Torres F, Salas A, Oguz Ç, Tamcelik N, Atalay E, Batu B, Irkec M, Aktas D, Kasim B, Astakhov YS, Astakhov SY, Akopov EL, Giessl A, Mardin C, Hellerbrand C, Cooke Bailey JN, Igo RP Jr, Haines JL, Edward DP, Heegaard S, Davila S, Tan P, Kang JH, Pasquale LR, Kruse FE, Reis A, Carmichael TR, Hauser M, Ramsay M, Mossböck G, Yildirim N, Tashiro K, Konstas AGP, Coca-Prados M, Foo JN, Kinoshita S, Sotozono C, Kubota T, Dubina M, Ritch R, Wiggs JL, Pasutto F, Schlötzer-Schrehardt U, Ho YS, Aung T, Tam WL, and Khor CC
- Subjects
- Aged, Aged, 80 and over, Anterior Chamber pathology, Case-Control Studies, Cytochrome P-450 Enzyme System genetics, Cytochrome P-450 Enzyme System metabolism, Female, Humans, Logistic Models, Male, Meta-Analysis as Topic, Middle Aged, RNA, Messenger metabolism, Exome Sequencing, Exfoliation Syndrome genetics, Genetic Variation, Steroid Hydroxylases genetics
- Abstract
Importance: Exfoliation syndrome is a systemic disorder characterized by progressive accumulation of abnormal fibrillar protein aggregates manifesting clinically in the anterior chamber of the eye. This disorder is the most commonly known cause of glaucoma and a major cause of irreversible blindness., Objective: To determine if exfoliation syndrome is associated with rare, protein-changing variants predicted to impair protein function., Design, Setting, and Participants: A 2-stage, case-control, whole-exome sequencing association study with a discovery cohort and 2 independently ascertained validation cohorts. Study participants from 14 countries were enrolled between February 1999 and December 2019. The date of last clinical follow-up was December 2019. Affected individuals had exfoliation material on anterior segment structures of at least 1 eye as visualized by slit lamp examination. Unaffected individuals had no signs of exfoliation syndrome., Exposures: Rare, coding-sequence genetic variants predicted to be damaging by bioinformatic algorithms trained to recognize alterations that impair protein function., Main Outcomes and Measures: The primary outcome was the presence of exfoliation syndrome. Exome-wide significance for detected variants was defined as P < 2.5 × 10-6. The secondary outcomes included biochemical enzymatic assays and gene expression analyses., Results: The discovery cohort included 4028 participants with exfoliation syndrome (median age, 78 years [interquartile range, 73-83 years]; 2377 [59.0%] women) and 5638 participants without exfoliation syndrome (median age, 72 years [interquartile range, 65-78 years]; 3159 [56.0%] women). In the discovery cohort, persons with exfoliation syndrome, compared with those without exfoliation syndrome, were significantly more likely to carry damaging CYP39A1 variants (1.3% vs 0.30%, respectively; odds ratio, 3.55 [95% CI, 2.07-6.10]; P = 6.1 × 10-7). This outcome was validated in 2 independent cohorts. The first validation cohort included 2337 individuals with exfoliation syndrome (median age, 74 years; 1132 women; n = 1934 with demographic data) and 2813 individuals without exfoliation syndrome (median age, 72 years; 1287 women; n = 2421 with demographic data). The second validation cohort included 1663 individuals with exfoliation syndrome (median age, 75 years; 587 women; n = 1064 with demographic data) and 3962 individuals without exfoliation syndrome (median age, 74 years; 951 women; n = 1555 with demographic data). Of the individuals from both validation cohorts, 5.2% with exfoliation syndrome carried CYP39A1 damaging alleles vs 3.1% without exfoliation syndrome (odds ratio, 1.82 [95% CI, 1.47-2.26]; P < .001). Biochemical assays classified 34 of 42 damaging CYP39A1 alleles as functionally deficient (median reduction in enzymatic activity compared with wild-type CYP39A1, 94.4% [interquartile range, 78.7%-98.2%] for the 34 deficient variants). CYP39A1 transcript expression was 47% lower (95% CI, 30%-64% lower; P < .001) in ciliary body tissues from individuals with exfoliation syndrome compared with individuals without exfoliation syndrome., Conclusions and Relevance: In this whole-exome sequencing case-control study, presence of exfoliation syndrome was significantly associated with carriage of functionally deficient CYP39A1 sequence variants. Further research is needed to understand the clinical implications of these findings.
- Published
- 2021
- Full Text
- View/download PDF
19. Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
- Author
-
Aung T, Ozaki M, Mizoguchi T, Allingham RR, Li Z, Haripriya A, Nakano S, Uebe S, Harder JM, Chan AS, Lee MC, Burdon KP, Astakhov YS, Abu-Amero KK, Zenteno JC, Nilgün Y, Zarnowski T, Pakravan M, Safieh LA, Jia L, Wang YX, Williams S, Paoli D, Schlottmann PG, Huang L, Sim KS, Foo JN, Nakano M, Ikeda Y, Kumar RS, Ueno M, Manabe S, Hayashi K, Kazama S, Ideta R, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Inoue K, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Aihara M, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Matsuda F, Yamashiro K, Gotoh N, Miyake M, Astakhov SY, Osman EA, Al-Obeidan SA, Owaidhah O, Al-Jasim L, Shahwan SA, Fogarty RA, Leo P, Yetkin Y, Oğuz Ç, Kanavi MR, Beni AN, Yazdani S, Akopov EL, Toh KY, Howell GR, Orr AC, Goh Y, Meah WY, Peh SQ, Kosior-Jarecka E, Lukasik U, Krumbiegel M, Vithana EN, Wong TY, Liu Y, Koch AE, Challa P, Rautenbach RM, Mackey DA, Hewitt AW, Mitchell P, Wang JJ, Ziskind A, Carmichael T, Ramakrishnan R, Narendran K, Venkatesh R, Vijayan S, Zhao P, Chen X, Guadarrama-Vallejo D, Cheng CY, Perera SA, Husain R, Ho SL, Welge-Luessen UC, Mardin C, Schloetzer-Schrehardt U, Hillmer AM, Herms S, Moebus S, Nöthen MM, Weisschuh N, Shetty R, Ghosh A, Teo YY, Brown MA, Lischinsky I, Crowston JG, Coote M, Zhao B, Sang J, Zhang N, You Q, Vysochinskaya V, Founti P, Chatzikyriakidou A, Lambropoulos A, Anastasopoulos E, Coleman AL, Wilson MR, Rhee DJ, Kang JH, May-Bolchakova I, Heegaard S, Mori K, Alward WL, Jonas JB, Xu L, Liebmann JM, Chowbay B, Schaeffeler E, Schwab M, Lerner F, Wang N, Yang Z, Frezzotti P, Kinoshita S, Fingert JH, Inatani M, Tashiro K, Reis A, Edward DP, Pasquale LR, Kubota T, Wiggs JL, Pasutto F, Topouzis F, Dubina M, Craig JE, Yoshimura N, Sundaresan P, John SW, Ritch R, Hauser MA, and Khor CC
- Published
- 2015
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.