← Back to cohort
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
Tin Aung, Mineo Ozaki, Mei Lee, Ursula Schlötzer‐Schrehardt, Guðmar Þorleifsson, Takanori Mizoguchi, Robert P. Igo, Aravind Haripriya, Susan Williams, Yury S Astakhov, Andrew Orr, Kathryn P. Burdon, S Nakano, Kazuhiko Mori, Khaled K. Abu‐Amero, Michael A. Hauser, Zheng Li, Prakadeeswari Gopalakrishnan, Jessica N. Cooke Bailey, Alina Popa‐Cherecheanu, Jae H. Kang, Sarah C. Nelson, Ken Hayashi, Shin-ichi Manabe, Shigeyasu Kazama, Tomasz Żarnowski, Kenji Inoue, Murat İrkeç, Miguel Coca‐Prados, Kazuhisa Sugiyama, Irma Järvelä, Patricio G. Schlottmann, S. Lerner, Hasnaa Lamari, Nilgün Yıldırım, Mukharram M. Bikbov, Ki Ho Park, Soon Cheol, Kenji Yamashiro, Juan Carlos Zenteno, Jost B. Jonas, Rajesh S. Kumar, Shamira Perera, Anita Sook Yee Chan, Nino Kobakhidze, Ronnie George, Lingam Vijaya, Tan Do, Deepak P. Edward, Lourdes de Juan Marcos, Mohammad Pakravan, Sasan Moghimi, Ryuichi Ideta, Daniella Bach‐Holm, Per Kappelgaard, Barbara Wirostko, Samuel Thomas, Daniel Gaston, Karen Bedard, Wenda Greer, Zhenglin Yang, Xueyi Chen, Lulin Huang, Jinghong Sang, Hongyan Jia, Liyun Jia, Chunyan Qiao, Hui Zhang, Xuyang Liu, Bowen Zhao, Ya Xing Wang, Liang Xu, Stéphanie Leruez, Pascal Reynier, George Chichua, S Tabagari, Steffen Uebe, Matthias Zenkel, Daniel Berner, Georg Mossböck, Nicole Weisschuh, Ursula Hoja, Ulrich-Christoph Welge-Luessen, Christian Y. Mardin, Panayiota Founti, A. Chatzikyriakidou, Theofanis Pappas, Eleftherios Anastasopoulos, Alexandros Lambropoulos, Arkasubhra Ghosh, Rohit Shetty, Natalia Porporato, Saravanan Vijayan, Rengaraj Venkatesh, Chandrashekaran Shivkumar, Narendran Kalpana, Sripriya Sarangapani, Mozhgan R. Kanavi, Afsaneh Naderi Beni, Shahin Yazdani, Alireza Lashay, Homa Naderifar, Nassim Khatibi, Antonio Maria Fea, Carlo Lavia, Laura Dallorto, Teresa Rolle, Paolo Frezzotti, Daniela Paoli, Erika Salvi, Paolo Manunta, Yosai Mori, Kazunori Miyata, Tomomi Higashide, Etsuo Chihara, Satoshi Ishiko, Akitoshi Yoshida, Masahide Yanagi, Yoshiaki Kiuchi, Tsutomu Ōhashi, Toshiya Sakurai, Takako Sugimoto, Hideki Chuman, Makoto Aihara, Masaru Inatani, Masahiro Miyake, Norimoto Gotoh, Fumihiko Matsuda, Nagahisa Yoshimura, Yoko Ikeda, Morio Ueno, Chie Sotozono, Jin Wook Jeoung, Min Sagong, Kyu Hyung Park, Jeeyun Ahn, Marisa Cruz‐Aguilar, Sidi M Ezzouhairi, Abderrahman Rafei, Yaan Fun Chong, Xiao Yu Ng, Shuang Ru Goh, Yueming Chen, Muhammad Imran Khan, Olusola Olawoye, Adeyinka Ashaye, Ugbede Idakwo, Adeola Onakoya, Nkiru Kizor-Akaraiwe, Chaiwat Teekhasaenee, Yanin Suwan, Wasu Supakontanasan, Suhanya Okeke, Nkechi Uche, Ifeoma N. Asimadu, Humaira Ayub, Farah Akhtar, Ewa Kosior‐Jarecka, Urszula Łukasik, Ignacio Lischinsky, Vânia Castro, Rodolfo Perez Grossmann, Gordana Sunaric Mégevand, Sylvain Roy, Edward Dervan, Eoin Silke, Aparna Rao, Pablo Fornero, Osvaldo Cuello, Delia Sivori, Tamara Zompa, Richard Mills, Emmanuelle Souzeau, Paul Mitchell, Jie Jin Wang, Alex W. Hewitt, Michael Coote, Jonathan G. Crowston, Sergei Astakhov, Anton Emelyanov, Vera V. Vysochinskaya, Gyulli M. Kazakbaeva, R. R. Fayzrakhmanov, Saleh A. Al‐Obeidan, Ohoud Owaidhah, Leyla Ali Aljasim, Balram Chowbay, Jia Nee Foo, Raphael Q Soh, Kar Seng Sim, Zhicheng Xie, Augustine W O Cheong, Shi Qi Mok, Hui Meng Soo, Xiao Yin Chen, Su Qin Peh, Khai Koon Heng, Rahat Husain, Su-Ling Ho, Axel M. Hillmer, Ching‐Yu Cheng, Francisco A. Escudero-Domínguez, Rogelio González‐Sarmiento, Federico Martinón‐Torres, Antonio Salas, Kessara Pathanapitoon, Linda Hansapinyo, Boonsong Wanichwecharugruang, Naris Kitnarong, Anavaj Sakuntabhai, Hip X Nguyn, Giang T T Nguyn, Trình V Nguyn, Werner Zenz, Alexander Binder, Daniela Klobassa, Martin L. Hibberd, Sonia Dávila, Stefan Herms, Markus M. Nöthen, Susanne Moebus, Robyn M. Rautenbach, Ari Ziskind, Trevor Carmichael, Michèle Ramsay, Lydia Álvarez, Montserrat García, Héctor González‐Iglesias, Pedro Pablo Rodríguez-Calvo, Luis Fernández-Vega-Cueto, Oğuz Çilingir, Nevbahar Tamçelik, Eray Atalay, Bilge Batu, Dilek Aktaş, Burcu Kasım, M. Roy Wilson, Anne L. Coleman, Yutao Liu, Pratap Challa, Leon W. Herndon, Rachel W. Kuchtey, John Kuchtey, Karen Curtin, Craig J. Chaya, Alan S. Crandall, Linda M. Zangwill, Tien Yin Wong, Masakazu Nakano, Shigeru Kinoshita, Anneke I. den Hollander, Eija Vesti, John H. Fingert, Richard K. Lee, Arthur J. Sit, Bradford J. Shingleton, Ningli Wang, Raheel Qamar, Peter Kraft, Margaret A. Pericak‐Vance, Soumya Raychaudhuri, Steffen Heegaard, Tero Kivelä, André Reis, Friedrich E. Kruse, Robert N. Weinreb, Louis R. Pasquale, Jonathan L. Haines, Unnur Þorsteinsdóttir, Friðbert Jónasson, R. Rand Allingham, Dan Milea, Robert Ritch, Toshiaki Kubota, Kei Tashiro, Eranga N. Vithana, Shazia Micheal, Fotis Topouzis, Jamie E. Craig, Michael Dubina, Periasamy Sundaresan, Kāri Stefánsson, Janey L. Wiggs, Francesca Pasutto, Chiea Chuen Khor
Bibliographic record
VenueNature Genetics · 2017
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMicrobial metabolism and enzyme function
Canadian institutionsDalhousie University
FundersNational Eye InstituteNational Cancer InstituteNational Heart, Lung, and Blood Institute
KeywordsBiologyGeneticsGenetic associationGenetic predispositionGenome-wide association studyGenotypeSingle-nucleotide polymorphismGene
Abstract
No abstract in any covered source. Its absence is recorded, not treated as a negative.
No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.002
Threshold uncertainty score0.006
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.002 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
Opus teacher head0.020
GPT teacher head0.299
Teacher spread0.279 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreReview
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".
Quick stats
Citations158
Published2017
Admission routes1
Has abstractno