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21 results on '"Asimadu, Ifeoma"'

1. Impact of COVID-19 on ophthalmic surgical procedures in sub-Saharan Africa: a multicentre study

Author

Ally, Naseer, Ismail, Sarah, Naidu, Natasha, Makda, Ismail, Mayet, Ismail, Gyasi, Michael E., Makafui, Peter, Nomo, Arlette, Nanfack, Chantal, Madikane, Anesu T., Pohl, Walda D., Mbambisa, Bayanda N., Oettle, Jonathan T., Adepoju, Feyi, Tota-Bolarinwa, Toibat B., Buque, Amelia, Khalau, Sidonia J. N., Zirima, Douglas, Takayidza, Brian, Eze, Ugochukwu A., Adedeji, Akinyemi, Sandi, Frank, Feksi, Jacinta, Okonkwo, Ogugua, Hassan, Adekunle, du Toit, Nagib, Petersen, Shahlaa, Tsimi, Caroline, Dovoma, Viola, Bature, Mustapha, Adamu, Mohammed, Okeke, Suhanyah, Asimadu, Ifeoma N., Kizor-Akaraiwe, Nkiru N., Ezisi, Chinyelu N., Nkumbe, Henry E., Olivier, Tchoyou T. M., and Alli, Hassan D.

Published
2024
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3. Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry

Author

Consortium, The Genetics of Glaucoma in People of African Descent, Hauser, Michael A, Allingham, R Rand, Aung, Tin, Van Der Heide, Carly J, Taylor, Kent D, Rotter, Jerome I, Wang, Shih-Hsiu J, Bonnemaijer, Pieter WM, Williams, Susan E, Abdullahi, Sadiq M, Abu-Amero, Khaled K, Anderson, Michael G, Akafo, Stephen, Alhassan, Mahmoud B, Asimadu, Ifeoma, Ayyagari, Radha, Bakayoko, Saydou, Nyamsi, Prisca Biangoup, Bowden, Donald W, Bromley, William C, Budenz, Donald L, Carmichael, Trevor R, Challa, Pratap, Chen, Yii-Der Ida, Chuka-Okosa, Chimdi M, Bailey, Jessica N Cooke, Costa, Vital Paulino, Cruz, Dianne A, DuBiner, Harvey, Ervin, John F, Feldman, Robert M, Flamme-Wiese, Miles, Gaasterland, Douglas E, Garnai, Sarah J, Girkin, Christopher A, Guirou, Nouhoum, Guo, Xiuqing, Haines, Jonathan L, Hammond, Christopher J, Herndon, Leon, Hoffmann, Thomas J, Hulette, Christine M, Hydara, Abba, Igo, Robert P, Jorgenson, Eric, Kabwe, Joyce, Kilangalanga, Ngoy Janvier, Kizor-Akaraiwe, Nkiru, Kuchtey, Rachel W, Lamari, Hasnaa, Li, Zheng, Liebmann, Jeffrey M, Liu, Yutao, Loos, Ruth JF, Melo, Monica B, Moroi, Sayoko E, Msosa, Joseph M, Mullins, Robert F, Nadkarni, Girish, Napo, Abdoulaye, Ng, Maggie CY, Nunes, Hugo Freire, Obeng-Nyarkoh, Ebenezer, Okeke, Anthony, Okeke, Suhanya, Olaniyi, Olusegun, Olawoye, Olusola, Oliveira, Mariana Borges, Pasquale, Louise R, Perez-Grossmann, Rodolfo A, Pericak-Vance, Margaret A, Qin, Xue, Ramsay, Michele, Resnikoff, Serge, Richards, Julia E, Schimiti, Rui Barroso, Sim, Kar Seng, Sponsel, William E, Svidnicki, Paulo Vinicius, Thiadens, Alberta AHJ, Uche, Nkechinyere J, van Duijn, Cornelia M, de Vasconcellos, José Paulo Cabral, Wiggs, Janey L, Zangwill, Linda M, Risch, Neil, Milea, Dan, Ashaye, Adeyinka, Klaver, Caroline CW, Weinreb, Robert N, Koch, Allison E Ashley, Fingert, John H, and Khor, Chiea Chuen

Subjects
Neurosciences, Human Genome, Aging, Genetics, Eye Disease and Disorders of Vision, Clinical Research, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Adaptor Proteins, Signal Transducing, Aged, Amyloid beta-Peptides, Black People, Case-Control Studies, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Glaucoma, Open-Angle, Humans, Immunohistochemistry, Male, Meta-Analysis as Topic, Middle Aged, Polymorphism, Single Nucleotide, Risk Factors, Genetics of Glaucoma in People of African Descent (GGLAD) Consortium, Medical and Health Sciences, General & Internal Medicine
Abstract

ImportancePrimary open-angle glaucoma presents with increased prevalence and a higher degree of clinical severity in populations of African ancestry compared with European or Asian ancestry. Despite this, individuals of African ancestry remain understudied in genomic research for blinding disorders.ObjectivesTo perform a genome-wide association study (GWAS) of African ancestry populations and evaluate potential mechanisms of pathogenesis for loci associated with primary open-angle glaucoma.Design, settings, and participantsA 2-stage GWAS with a discovery data set of 2320 individuals with primary open-angle glaucoma and 2121 control individuals without primary open-angle glaucoma. The validation stage included an additional 6937 affected individuals and 14 917 unaffected individuals using multicenter clinic- and population-based participant recruitment approaches. Study participants were recruited from Ghana, Nigeria, South Africa, the United States, Tanzania, Britain, Cameroon, Saudi Arabia, Brazil, the Democratic Republic of the Congo, Morocco, Peru, and Mali from 2003 to 2018. Individuals with primary open-angle glaucoma had open iridocorneal angles and displayed glaucomatous optic neuropathy with visual field defects. Elevated intraocular pressure was not included in the case definition. Control individuals had no elevated intraocular pressure and no signs of glaucoma.ExposuresGenetic variants associated with primary open-angle glaucoma.Main outcomes and measuresPresence of primary open-angle glaucoma. Genome-wide significance was defined as P C) with primary open-angle glaucoma (odds ratio [OR], 1.32 [95% CI, 1.20-1.46]; P = 2 × 10-8). The association was validated in an analysis of an additional 6937 affected individuals and 14 917 unaffected individuals (OR, 1.15 [95% CI, 1.09-1.21]; P

Published
2019

4. Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.

Author

Genetics of Glaucoma in People of African Descent (GGLAD) Consortium, Hauser, Michael A, Allingham, R Rand, Aung, Tin, Van Der Heide, Carly J, Taylor, Kent D, Rotter, Jerome I, Wang, Shih-Hsiu J, Bonnemaijer, Pieter WM, Williams, Susan E, Abdullahi, Sadiq M, Abu-Amero, Khaled K, Anderson, Michael G, Akafo, Stephen, Alhassan, Mahmoud B, Asimadu, Ifeoma, Ayyagari, Radha, Bakayoko, Saydou, Nyamsi, Prisca Biangoup, Bowden, Donald W, Bromley, William C, Budenz, Donald L, Carmichael, Trevor R, Challa, Pratap, Chen, Yii-Der Ida, Chuka-Okosa, Chimdi M, Cooke Bailey, Jessica N, Costa, Vital Paulino, Cruz, Dianne A, DuBiner, Harvey, Ervin, John F, Feldman, Robert M, Flamme-Wiese, Miles, Gaasterland, Douglas E, Garnai, Sarah J, Girkin, Christopher A, Guirou, Nouhoum, Guo, Xiuqing, Haines, Jonathan L, Hammond, Christopher J, Herndon, Leon, Hoffmann, Thomas J, Hulette, Christine M, Hydara, Abba, Igo, Robert P, Jorgenson, Eric, Kabwe, Joyce, Kilangalanga, Ngoy Janvier, Kizor-Akaraiwe, Nkiru, Kuchtey, Rachel W, Lamari, Hasnaa, Li, Zheng, Liebmann, Jeffrey M, Liu, Yutao, Loos, Ruth JF, Melo, Monica B, Moroi, Sayoko E, Msosa, Joseph M, Mullins, Robert F, Nadkarni, Girish, Napo, Abdoulaye, Ng, Maggie CY, Nunes, Hugo Freire, Obeng-Nyarkoh, Ebenezer, Okeke, Anthony, Okeke, Suhanya, Olaniyi, Olusegun, Olawoye, Olusola, Oliveira, Mariana Borges, Pasquale, Louise R, Perez-Grossmann, Rodolfo A, Pericak-Vance, Margaret A, Qin, Xue, Ramsay, Michele, Resnikoff, Serge, Richards, Julia E, Schimiti, Rui Barroso, Sim, Kar Seng, Sponsel, William E, Svidnicki, Paulo Vinicius, Thiadens, Alberta AHJ, Uche, Nkechinyere J, van Duijn, Cornelia M, de Vasconcellos, José Paulo Cabral, Wiggs, Janey L, Zangwill, Linda M, Risch, Neil, Milea, Dan, Ashaye, Adeyinka, Klaver, Caroline CW, Weinreb, Robert N, Ashley Koch, Allison E, Fingert, John H, and Khor, Chiea Chuen

Subjects
Genetics of Glaucoma in People of African Descent (GGLAD) Consortium, Humans, Glaucoma, Open-Angle, Genetic Predisposition to Disease, Adaptor Proteins, Signal Transducing, Immunohistochemistry, Risk Factors, Case-Control Studies, Genotype, Polymorphism, Single Nucleotide, Aged, Middle Aged, African Continental Ancestry Group, Female, Male, Meta-Analysis as Topic, Genome-Wide Association Study, Amyloid beta-Peptides, Eye Disease and Disorders of Vision, Clinical Research, Human Genome, Aging, Neurodegenerative, Genetics, Neurosciences, 2.1 Biological and endogenous factors, General & Internal Medicine, Medical and Health Sciences
Abstract

Importance:Primary open-angle glaucoma presents with increased prevalence and a higher degree of clinical severity in populations of African ancestry compared with European or Asian ancestry. Despite this, individuals of African ancestry remain understudied in genomic research for blinding disorders. Objectives:To perform a genome-wide association study (GWAS) of African ancestry populations and evaluate potential mechanisms of pathogenesis for loci associated with primary open-angle glaucoma. Design, Settings, and Participants:A 2-stage GWAS with a discovery data set of 2320 individuals with primary open-angle glaucoma and 2121 control individuals without primary open-angle glaucoma. The validation stage included an additional 6937 affected individuals and 14 917 unaffected individuals using multicenter clinic- and population-based participant recruitment approaches. Study participants were recruited from Ghana, Nigeria, South Africa, the United States, Tanzania, Britain, Cameroon, Saudi Arabia, Brazil, the Democratic Republic of the Congo, Morocco, Peru, and Mali from 2003 to 2018. Individuals with primary open-angle glaucoma had open iridocorneal angles and displayed glaucomatous optic neuropathy with visual field defects. Elevated intraocular pressure was not included in the case definition. Control individuals had no elevated intraocular pressure and no signs of glaucoma. Exposures:Genetic variants associated with primary open-angle glaucoma. Main Outcomes and Measures:Presence of primary open-angle glaucoma. Genome-wide significance was defined as P C) with primary open-angle glaucoma (odds ratio [OR], 1.32 [95% CI, 1.20-1.46]; P = 2 × 10-8). The association was validated in an analysis of an additional 6937 affected individuals and 14 917 unaffected individuals (OR, 1.15 [95% CI, 1.09-1.21]; P

Published
2019

8. Impact of COVID 19 on Ophthalmic Surgical Procedures in Sub-Saharan Africa: A Multicentre Study

Author

Ally, Naseer, primary, Ismail, Sarah, additional, Naidu, Natasha, additional, Makda, Ismail, additional, Mayet, Ismail, additional, Gyasi, Michael Ekuoba, additional, Makafui, Peter, additional, Nomo, Arlette Francine, additional, Nanfack, Chantal, additional, Madikane, Anesu T., additional, Pohl, Walda D., additional, Mbambisa, Bayanda, additional, Oettle, Jonathan Timothy, additional, Adepoju, Feyi, additional, Tota-Bolarinwa, Toibat B., additional, Buque, Amelia, additional, Khalau, Sidonia J.N., additional, Zirima, Douglas, additional, Takayidza, Brian, additional, Eze, Ugochukwu, additional, Adedeji, Akinyemi, additional, Sandi, Frank, additional, Feksi, Jacinta MD, additional, Okonkwo, Ogugua, additional, Hassan, Adekunle, additional, du Toit, Nagib, additional, Petersen, Shahlaa, additional, Mvilongo, Caroline Tsimi, additional, Dovoma, Viola, additional, Bature, Mustapha, additional, Mohammed, Adamu Dantani, additional, Okeke, Suhanyah, additional, Asimadu, Ifeoma Nwabuogo, additional, Kizor-Akaraiwe, Nkiru N., additional, Ezisi, Chinyelu N., additional, Nkumbe, Henry E., additional, Olivier, Tchoyou T.M., additional, and Alli, Hassan Dawood, additional

Published
2023
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10. Medical education in the COVID-19 era: A qualitative study of impact on and implications for a low-income country

Author

Ohayi, Samuel R., Igwe, Monday N., and Asimadu, Ifeoma N.

Subjects
education
Abstract

Background: Medical education is fundamentally an extremely rigorous process. In Nigeria, facility shortage and schedule disruption following recurrent strikes, insecurity and political uncertainties adversely affect medical education. COVID-19 pandemic and associated restrictive containment measures worsened the disruption. In response to these disruptions due to the restrictions imposed for the pandemic, institutions including Nigerian schools devised various modifications to how they deliver education to ensure continuation while the pandemic lasts. Our school, Enugu State University College of Medicine introduced online learning. The objective of this study was to ascertain clinical lecturers' and clinical-level medical students' perception about the impact of COVID-19 pandemic and associated nonmedical containment measures on medical education and implications for our country. Methods: We conducted a qualitative study using focus group discussion involving clinical lecturers and clinical-level medical students. Two focus groups were recruited and constant comparison analytical method used. Results: Participants believed that online learning will be ineffectual due to poor electricity supply, inadequate internet infrastructure and poor access by students. They also agreed that suspension of training was an extreme response which could worsen prevailing poor medical manpower, cause anxiety and stress for students and multiply financial burdens for parents. Participants suggested that government synergized with information technology companies to provide internet access to universities; use of recorded videos for the delivery of education and computer based testing (CBT) for some examinations. Conclusion: Medical education is prone to disruptions by health-related crisis. Relevant authorities should explore the possibilities of remote learning and problem-based learning among other interventions to ensure continuation of medical education in such situations.&nbsp

Published
2022

15. Cross-sectional Survey to Determine the Awareness and Uptake of Glaucoma Surgery.

Author

Kizor-Akaraiwe, Nkiru N., Asimadu, Ifeoma N., Uche, Nkechi J., Okeke, Suhanyah, and Shiweobi, Obinna

Subjects
*GLAUCOMA treatment, *AWARENESS, *PATIENT education, *HEALTH counseling, GLAUCOMA surgery
Abstract

Introduction: This study aimed to determine the awareness and uptake of surgery as a treatment option in patients with glaucoma on medical treatment. Methods: A cross-sectional survey was conducted among consenting patients with primary glaucoma who were on medical treatment. The survey was conducted in two eye care facilities (government-owned and private). After responding to a questionnaire, patients had ocular examinations, including visual acuity, anterior/posterior segment examinations, gonioscopy and central visual field testing. Information was obtained on the patients' awareness of a surgical option, and reasons for non-uptake among those offered surgery were recorded. Logistic regression analysis was used to identify possible predictors of awareness of glaucoma. Results: Across both facilities, 299 patients with glaucoma with a mean age of 63.9 years participated in this study. There were 167 (55.9%) male and 132 (44.1%) female participants. Two hundred and sixty-seven (89.3%) had a formal education, and of the 169 evaluated for visual fields in the worse eye, 129 (76.3%) had severe (advanced) glaucoma. Only 79 (26.4%) of the participants were aware of surgery as a treatment option for glaucoma. The multivariate analysis found that female patients, patients from the private eye care facility and patients with primary angle closure glaucoma patients were more likely to be aware of glaucoma surgery than male patients, patients from the government-owned eye care facility and patients with primary open-angle glaucoma. Patients with primary angle closure glaucoma were more likely to be aware of glaucoma surgery than those with primary open-angle glaucoma. Cost was identified as the major barrier to the uptake of glaucoma surgery when it was recommended, followed by fear of blindness. Age, level of education and severity of disease had no statistical relationship to awareness of glaucoma surgery. Conclusion: Incorporating routine glaucoma education and counselling into glaucoma care protocols will likely improve awareness of glaucoma surgery as a treatment option. [ABSTRACT FROM AUTHOR]

Published
2022
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18. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

Author

Aung, Tin, Ozaki, Mineo, Lee, Mei Chin, Schlotzer-Schrehardt, Ursula, Thorleifsson, Gudmar, Mizoguchi, Takanori, Igo, Robert P., Jr., Haripriya, Aravind, Williams, Susan E., Astakhov, Yury S., Orr, Andrew C., Burdon, Kathryn P., Nakano, Satoko, Mori, Kazuhiko, Abu-Amero, Khaled, Hauser, Michael, Li, Zheng, Prakadeeswari, Gopalakrishnan, Bailey, Jessica N. Cooke, Cherecheanu, Alina Popa, Kang, Jae H., Nelson, Sarah, Hayashi, Ken, Manabe, Shin-ichi, Kazama, Shigeyasu, Zarnowski, Tomasz, Inoue, Kenji, Irkec, Murat, Coca-Prados, Miguel, Sugiyama, Kazuhisa, Jarvela, Irma, Schlottmann, Patricio, Lerner, S. Fabian, Lamari, Hasnaa, Nilgun, Yildirim, Bikbov, Mukharram, Park, Ki Ho, Cha, Soon Cheol, Yamashiro, Kenji, Zenteno, Juan C., Jonas, Jost B., Kumar, Rajesh S., Perera, Shamira A., Chan, Anita S. Y., Kobakhidze, Nino, George, Ronnie, Vijaya, Lingam, Do, Tan, Edward, Deepak P., de Juan Marcos, Lourdes, Pakravan, Mohammad, Moghimi, Sasan, Ideta, Ryuichi, Bach-Holm, Daniella, Kappelgaard, Per, Wirostko, Barbara, Thomas, Samuel, Gaston, Daniel, Bedard, Karen, Greer, Wenda L., Yang, Zhenglin, Chen, Xueyi, Huang, Lulin, Sang, Jinghong, Jia, Hongyan, Jia, Liyun, Qiao, Chunyan, Zhang, Hui, Liu, Xuyang, Zhao, Bowen, Wang, Ya-Xing, Xu, Liang, Leruez, Stephanie, Reynier, Pascal, Chichua, George, Tabagari, Sergo, Uebe, Steffen, Zenkel, Matthias, Berner, Daniel, Mossboeck, Georg, Weisschuh, Nicole, Hoja, Ursula, Welge-Luessen, Ulrich-Christoph, Mardin, Christian, Founti, Panayiota, Chatzikyriakidou, Anthi, Pappas, Theofanis, Anastasopoulos, Eleftherios, Lambropoulos, Alexandros, Ghosh, Arkasubhra, Shetty, Rohit, Porporato, Natalia, Saravanan, Vijayan, Venkatesh, Rengaraj, Shivkumar, Chandrashekaran, Kalpana, Narendran, Sarangapani, Sripriya, Kanavi, Mozhgan R., Beni, Afsaneh Naderi, Yazdani, Shahin, Lashay, Alireza, Naderifar, Homa, Khatibi, Nassim, Fea, Antonio, Lavia, Carlo, Dallorto, Laura, Rolle, Teresa, Frezzotti, Paolo, Paoli, Daniela, Salvi, Erika, Manunta, Paolo, Mori, Yosai, Miyata, Kazunori, Higashide, Tomomi, Chihara, Etsuo, Ishiko, Satoshi, Yoshida, Akitoshi, Yanagi, Masahide, Kiuchi, Yoshiaki, Ohashi, Tsutomu, Sakurai, Toshiya, Sugimoto, Takako, Chuman, Hideki, Aihara, Makoto, Inatani, Masaru, Miyake, Masahiro, Gotoh, Norimoto, Matsuda, Fumihiko, Yoshimura, Nagahisa, Ikeda, Yoko, Ueno, Morio, Sotozono, Chie, Jeoung, Jin Wook, Sagong, Min, Park, Kyu Hyung, Ahn, Jeeyun, Cruz-Aguilar, Marisa, Ezzouhairi, Sidi M., Rafei, Abderrahman, Chong, Yaan Fun, Ng, Xiao Yu, Goh, Shuang Ru, Chen, Yueming, Yong, Victor H. K., Khan, Muhammad Imran, Olawoye, Olusola O., Ashaye, Adeyinka O., Ugbede, Idakwo, Onakoya, Adeola, Kizor-Akaraiwe, Nkiru, Teekhasaenee, Chaiwat, Suwan, Yanin, Supakontanasan, Wasu, Okeke, Suhanya, Uche, Nkechi J., Asimadu, Ifeoma, Ayub, Humaira, Akhtar, Farah, Kosior-Jarecka, Ewa, Lukasik, Urszula, Lischinsky, Ignacio, Castro, Vania, Perez Grossmann, Rodolfo, Megevand, Gordana Sunaric, Roy, Sylvain, Dervan, Edward, Silke, Eoin, Rao, Aparna, Sahay, Priti, Fornero, Pablo, Cuello, Osvaldo, Sivori, Delia, Zompa, Tamara, Mills, Richard A., Souzeau, Emmanuelle, Mitchell, Paul, Wang, Jie Jin, Hewitt, Alex W., Coote, Michael, Crowston, Jonathan G., Astakhov, Sergei Y., Akopov, Eugeny L., Emelyanov, Anton, Vysochinskaya, Vera, Kazakbaeva, Gyulli, Fayzrakhmanov, Rinat, Al-Obeidan, Saleh A., Owaidhah, Ohoud, Aljasim, Leyla Ali, Chowbay, Balram, Foo, Jia Nee, Soh, Raphael Q., Sim, Kar Seng, Xie, Zhicheng, Cheong, Augustine W. O., Mok, Shi Qi, Soo, Hui Meng, Chen, Xiao Yin, Peh, Su Qin, Heng, Khai Koon, Husain, Rahat, Ho, Su-Ling, Hillmer, Axel M., Cheng, Ching-Yu, Escudero-Dominguez, Francisco A., Gonzalez-Sarmiento, Rogelio, Martinon-Torres, Frederico, Salas, Antonio, Pathanapitoon, Kessara, Hansapinyo, Linda, Wanichwecharugruang, Boonsong, Kitnarong, Naris, Sakuntabhai, Anavaj, Nguyn, Hip X., Nguyn, Giang T. T., Nguyn, TrNh V., Zenz, Werner, Binder, Alexander, Klobassa, Daniela S., Hibberd, Martin L., Davila, Sonia, Herms, Stefan, Nothen, Markus M., Moebus, Susanne, Rautenbach, Robyn M., Ziskind, Ari, Carmichael, Trevor R., Ramsay, Michele, Alvarez, Lydia, Garcia, Montserrat, Gonzalez-Iglesias, Hector, Rodriguez-Calvo, Pedro P., Fernandez-Vega Cueto, Luis, Oguz, Cilingir, Tamcelik, Nevbahar, Atalay, Eray, Batu, Bilge, Aktas, Dilek, Kasim, Burcu, Wilson, M. Roy, Coleman, Anne L., Liu, Yutao, Challa, Pratap, Herndon, Leon, Kuchtey, Rachel W., Kuchtey, John, Curtin, Karen, Chaya, Craig J., Crandall, Alan, Zangwill, Linda M., Wong, Tien Yin, Nakano, Masakazu, Kinoshita, Shigeru, den Hollander, Anneke I., Vesti, Eija, Fingert, John H., Lee, Richard K., Sit, Arthur J., Shingleton, Bradford J., Wang, Ningli, Cusi, Daniele, Qamar, Raheel, Kraft, Peter, Pericak-Vance, Margaret A., Raychaudhuri, Soumya, Heegaard, Steffen, Kivela, Tero, Reis, Andre, Kruse, Friedrich E., Weinreb, Robert N., Pasquale, Louis R., Haines, Jonathan L., Thorsteinsdottir, Unnur, Jonasson, Fridbert, Allingham, R. Rand, Milea, Dan, Ritch, Robert, Kubota, Toshiaki, Tashiro, Kei, Vithana, Eranga N., Micheal, Shazia, Topouzis, Fotis, Craig, Jamie E., Dubina, Michael, Sundaresan, Periasamy, Stefansson, Kari, Wiggs, Janey L., Pasutto, Francesca, Khor, Chiea Chuen, Aung, Tin, Ozaki, Mineo, Lee, Mei Chin, Schlotzer-Schrehardt, Ursula, Thorleifsson, Gudmar, Mizoguchi, Takanori, Igo, Robert P., Jr., Haripriya, Aravind, Williams, Susan E., Astakhov, Yury S., Orr, Andrew C., Burdon, Kathryn P., Nakano, Satoko, Mori, Kazuhiko, Abu-Amero, Khaled, Hauser, Michael, Li, Zheng, Prakadeeswari, Gopalakrishnan, Bailey, Jessica N. Cooke, Cherecheanu, Alina Popa, Kang, Jae H., Nelson, Sarah, Hayashi, Ken, Manabe, Shin-ichi, Kazama, Shigeyasu, Zarnowski, Tomasz, Inoue, Kenji, Irkec, Murat, Coca-Prados, Miguel, Sugiyama, Kazuhisa, Jarvela, Irma, Schlottmann, Patricio, Lerner, S. Fabian, Lamari, Hasnaa, Nilgun, Yildirim, Bikbov, Mukharram, Park, Ki Ho, Cha, Soon Cheol, Yamashiro, Kenji, Zenteno, Juan C., Jonas, Jost B., Kumar, Rajesh S., Perera, Shamira A., Chan, Anita S. Y., Kobakhidze, Nino, George, Ronnie, Vijaya, Lingam, Do, Tan, Edward, Deepak P., de Juan Marcos, Lourdes, Pakravan, Mohammad, Moghimi, Sasan, Ideta, Ryuichi, Bach-Holm, Daniella, Kappelgaard, Per, Wirostko, Barbara, Thomas, Samuel, Gaston, Daniel, Bedard, Karen, Greer, Wenda L., Yang, Zhenglin, Chen, Xueyi, Huang, Lulin, Sang, Jinghong, Jia, Hongyan, Jia, Liyun, Qiao, Chunyan, Zhang, Hui, Liu, Xuyang, Zhao, Bowen, Wang, Ya-Xing, Xu, Liang, Leruez, Stephanie, Reynier, Pascal, Chichua, George, Tabagari, Sergo, Uebe, Steffen, Zenkel, Matthias, Berner, Daniel, Mossboeck, Georg, Weisschuh, Nicole, Hoja, Ursula, Welge-Luessen, Ulrich-Christoph, Mardin, Christian, Founti, Panayiota, Chatzikyriakidou, Anthi, Pappas, Theofanis, Anastasopoulos, Eleftherios, Lambropoulos, Alexandros, Ghosh, Arkasubhra, Shetty, Rohit, Porporato, Natalia, Saravanan, Vijayan, Venkatesh, Rengaraj, Shivkumar, Chandrashekaran, Kalpana, Narendran, Sarangapani, Sripriya, Kanavi, Mozhgan R., Beni, Afsaneh Naderi, Yazdani, Shahin, Lashay, Alireza, Naderifar, Homa, Khatibi, Nassim, Fea, Antonio, Lavia, Carlo, Dallorto, Laura, Rolle, Teresa, Frezzotti, Paolo, Paoli, Daniela, Salvi, Erika, Manunta, Paolo, Mori, Yosai, Miyata, Kazunori, Higashide, Tomomi, Chihara, Etsuo, Ishiko, Satoshi, Yoshida, Akitoshi, Yanagi, Masahide, Kiuchi, Yoshiaki, Ohashi, Tsutomu, Sakurai, Toshiya, Sugimoto, Takako, Chuman, Hideki, Aihara, Makoto, Inatani, Masaru, Miyake, Masahiro, Gotoh, Norimoto, Matsuda, Fumihiko, Yoshimura, Nagahisa, Ikeda, Yoko, Ueno, Morio, Sotozono, Chie, Jeoung, Jin Wook, Sagong, Min, Park, Kyu Hyung, Ahn, Jeeyun, Cruz-Aguilar, Marisa, Ezzouhairi, Sidi M., Rafei, Abderrahman, Chong, Yaan Fun, Ng, Xiao Yu, Goh, Shuang Ru, Chen, Yueming, Yong, Victor H. K., Khan, Muhammad Imran, Olawoye, Olusola O., Ashaye, Adeyinka O., Ugbede, Idakwo, Onakoya, Adeola, Kizor-Akaraiwe, Nkiru, Teekhasaenee, Chaiwat, Suwan, Yanin, Supakontanasan, Wasu, Okeke, Suhanya, Uche, Nkechi J., Asimadu, Ifeoma, Ayub, Humaira, Akhtar, Farah, Kosior-Jarecka, Ewa, Lukasik, Urszula, Lischinsky, Ignacio, Castro, Vania, Perez Grossmann, Rodolfo, Megevand, Gordana Sunaric, Roy, Sylvain, Dervan, Edward, Silke, Eoin, Rao, Aparna, Sahay, Priti, Fornero, Pablo, Cuello, Osvaldo, Sivori, Delia, Zompa, Tamara, Mills, Richard A., Souzeau, Emmanuelle, Mitchell, Paul, Wang, Jie Jin, Hewitt, Alex W., Coote, Michael, Crowston, Jonathan G., Astakhov, Sergei Y., Akopov, Eugeny L., Emelyanov, Anton, Vysochinskaya, Vera, Kazakbaeva, Gyulli, Fayzrakhmanov, Rinat, Al-Obeidan, Saleh A., Owaidhah, Ohoud, Aljasim, Leyla Ali, Chowbay, Balram, Foo, Jia Nee, Soh, Raphael Q., Sim, Kar Seng, Xie, Zhicheng, Cheong, Augustine W. O., Mok, Shi Qi, Soo, Hui Meng, Chen, Xiao Yin, Peh, Su Qin, Heng, Khai Koon, Husain, Rahat, Ho, Su-Ling, Hillmer, Axel M., Cheng, Ching-Yu, Escudero-Dominguez, Francisco A., Gonzalez-Sarmiento, Rogelio, Martinon-Torres, Frederico, Salas, Antonio, Pathanapitoon, Kessara, Hansapinyo, Linda, Wanichwecharugruang, Boonsong, Kitnarong, Naris, Sakuntabhai, Anavaj, Nguyn, Hip X., Nguyn, Giang T. T., Nguyn, TrNh V., Zenz, Werner, Binder, Alexander, Klobassa, Daniela S., Hibberd, Martin L., Davila, Sonia, Herms, Stefan, Nothen, Markus M., Moebus, Susanne, Rautenbach, Robyn M., Ziskind, Ari, Carmichael, Trevor R., Ramsay, Michele, Alvarez, Lydia, Garcia, Montserrat, Gonzalez-Iglesias, Hector, Rodriguez-Calvo, Pedro P., Fernandez-Vega Cueto, Luis, Oguz, Cilingir, Tamcelik, Nevbahar, Atalay, Eray, Batu, Bilge, Aktas, Dilek, Kasim, Burcu, Wilson, M. Roy, Coleman, Anne L., Liu, Yutao, Challa, Pratap, Herndon, Leon, Kuchtey, Rachel W., Kuchtey, John, Curtin, Karen, Chaya, Craig J., Crandall, Alan, Zangwill, Linda M., Wong, Tien Yin, Nakano, Masakazu, Kinoshita, Shigeru, den Hollander, Anneke I., Vesti, Eija, Fingert, John H., Lee, Richard K., Sit, Arthur J., Shingleton, Bradford J., Wang, Ningli, Cusi, Daniele, Qamar, Raheel, Kraft, Peter, Pericak-Vance, Margaret A., Raychaudhuri, Soumya, Heegaard, Steffen, Kivela, Tero, Reis, Andre, Kruse, Friedrich E., Weinreb, Robert N., Pasquale, Louis R., Haines, Jonathan L., Thorsteinsdottir, Unnur, Jonasson, Fridbert, Allingham, R. Rand, Milea, Dan, Ritch, Robert, Kubota, Toshiaki, Tashiro, Kei, Vithana, Eranga N., Micheal, Shazia, Topouzis, Fotis, Craig, Jamie E., Dubina, Michael, Sundaresan, Periasamy, Stefansson, Kari, Wiggs, Janey L., Pasutto, Francesca, and Khor, Chiea Chuen

Abstract

Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results across populations, and to identify new variants associated with XFS. We identified a rare protective allele at LOXL1 (p.Phe407, odds ratio (OR) = 25, P = 2.9 × 10−14) through deep resequencing of XFS cases and controls from nine countries. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci (P < 5 × 10−8). We identified association signals at 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology.

Published
2017

19. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

Author

Aung, Tin, primary, Ozaki, Mineo, additional, Lee, Mei Chin, additional, Schlötzer-Schrehardt, Ursula, additional, Thorleifsson, Gudmar, additional, Mizoguchi, Takanori, additional, Igo, Robert P, additional, Haripriya, Aravind, additional, Williams, Susan E, additional, Astakhov, Yury S, additional, Orr, Andrew C, additional, Burdon, Kathryn P, additional, Nakano, Satoko, additional, Mori, Kazuhiko, additional, Abu-Amero, Khaled, additional, Hauser, Michael, additional, Li, Zheng, additional, Prakadeeswari, Gopalakrishnan, additional, Bailey, Jessica N Cooke, additional, Cherecheanu, Alina Popa, additional, Kang, Jae H, additional, Nelson, Sarah, additional, Hayashi, Ken, additional, Manabe, Shin-ichi, additional, Kazama, Shigeyasu, additional, Zarnowski, Tomasz, additional, Inoue, Kenji, additional, Irkec, Murat, additional, Coca-Prados, Miguel, additional, Sugiyama, Kazuhisa, additional, Järvelä, Irma, additional, Schlottmann, Patricio, additional, Lerner, S Fabian, additional, Lamari, Hasnaa, additional, Nilgün, Yildirim, additional, Bikbov, Mukharram, additional, Park, Ki Ho, additional, Cha, Soon Cheol, additional, Yamashiro, Kenji, additional, Zenteno, Juan C, additional, Jonas, Jost B, additional, Kumar, Rajesh S, additional, Perera, Shamira A, additional, Chan, Anita S Y, additional, Kobakhidze, Nino, additional, George, Ronnie, additional, Vijaya, Lingam, additional, Do, Tan, additional, Edward, Deepak P, additional, de Juan Marcos, Lourdes, additional, Pakravan, Mohammad, additional, Moghimi, Sasan, additional, Ideta, Ryuichi, additional, Bach-Holm, Daniella, additional, Kappelgaard, Per, additional, Wirostko, Barbara, additional, Thomas, Samuel, additional, Gaston, Daniel, additional, Bedard, Karen, additional, Greer, Wenda L, additional, Yang, Zhenglin, additional, Chen, Xueyi, additional, Huang, Lulin, additional, Sang, Jinghong, additional, Jia, Hongyan, additional, Jia, Liyun, additional, Qiao, Chunyan, additional, Zhang, Hui, additional, Liu, Xuyang, additional, Zhao, Bowen, additional, Wang, Ya-Xing, additional, Xu, Liang, additional, Leruez, Stéphanie, additional, Reynier, Pascal, additional, Chichua, George, additional, Tabagari, Sergo, additional, Uebe, Steffen, additional, Zenkel, Matthias, additional, Berner, Daniel, additional, Mossböck, Georg, additional, Weisschuh, Nicole, additional, Hoja, Ursula, additional, Welge-Luessen, Ulrich-Christoph, additional, Mardin, Christian, additional, Founti, Panayiota, additional, Chatzikyriakidou, Anthi, additional, Pappas, Theofanis, additional, Anastasopoulos, Eleftherios, additional, Lambropoulos, Alexandros, additional, Ghosh, Arkasubhra, additional, Shetty, Rohit, additional, Porporato, Natalia, additional, Saravanan, Vijayan, additional, Venkatesh, Rengaraj, additional, Shivkumar, Chandrashekaran, additional, Kalpana, Narendran, additional, Sarangapani, Sripriya, additional, Kanavi, Mozhgan R, additional, Beni, Afsaneh Naderi, additional, Yazdani, Shahin, additional, lashay, Alireza, additional, Naderifar, Homa, additional, Khatibi, Nassim, additional, Fea, Antonio, additional, Lavia, Carlo, additional, Dallorto, Laura, additional, Rolle, Teresa, additional, Frezzotti, Paolo, additional, Paoli, Daniela, additional, Salvi, Erika, additional, Manunta, Paolo, additional, Mori, Yosai, additional, Miyata, Kazunori, additional, Higashide, Tomomi, additional, Chihara, Etsuo, additional, Ishiko, Satoshi, additional, Yoshida, Akitoshi, additional, Yanagi, Masahide, additional, Kiuchi, Yoshiaki, additional, Ohashi, Tsutomu, additional, Sakurai, Toshiya, additional, Sugimoto, Takako, additional, Chuman, Hideki, additional, Aihara, Makoto, additional, Inatani, Masaru, additional, Miyake, Masahiro, additional, Gotoh, Norimoto, additional, Matsuda, Fumihiko, additional, Yoshimura, Nagahisa, additional, Ikeda, Yoko, additional, Ueno, Morio, additional, Sotozono, Chie, additional, Jeoung, Jin Wook, additional, Sagong, Min, additional, Park, Kyu Hyung, additional, Ahn, Jeeyun, additional, Cruz-Aguilar, Marisa, additional, Ezzouhairi, Sidi M, additional, Rafei, Abderrahman, additional, Chong, Yaan Fun, additional, Ng, Xiao Yu, additional, Goh, Shuang Ru, additional, Chen, Yueming, additional, Yong, Victor H K, additional, Khan, Muhammad Imran, additional, Olawoye, Olusola O, additional, Ashaye, Adeyinka O, additional, Ugbede, Idakwo, additional, Onakoya, Adeola, additional, Kizor-Akaraiwe, Nkiru, additional, Teekhasaenee, Chaiwat, additional, Suwan, Yanin, additional, Supakontanasan, Wasu, additional, Okeke, Suhanya, additional, Uche, Nkechi J, additional, Asimadu, Ifeoma, additional, Ayub, Humaira, additional, Akhtar, Farah, additional, Kosior-Jarecka, Ewa, additional, Lukasik, Urszula, additional, Lischinsky, Ignacio, additional, Castro, Vania, additional, Grossmann, Rodolfo Perez, additional, Megevand, Gordana Sunaric, additional, Roy, Sylvain, additional, Dervan, Edward, additional, Silke, Eoin, additional, Rao, Aparna, additional, Sahay, Priti, additional, Fornero, Pablo, additional, Cuello, Osvaldo, additional, Sivori, Delia, additional, Zompa, Tamara, additional, Mills, Richard A, additional, Souzeau, Emmanuelle, additional, Mitchell, Paul, additional, Wang, Jie Jin, additional, Hewitt, Alex W, additional, Coote, Michael, additional, Crowston, Jonathan G, additional, Astakhov, Sergei Y, additional, Akopov, Eugeny L, additional, Emelyanov, Anton, additional, Vysochinskaya, Vera, additional, Kazakbaeva, Gyulli, additional, Fayzrakhmanov, Rinat, additional, Al-Obeidan, Saleh A, additional, Owaidhah, Ohoud, additional, Aljasim, Leyla Ali, additional, Chowbay, Balram, additional, Foo, Jia Nee, additional, Soh, Raphael Q, additional, Sim, Kar Seng, additional, Xie, Zhicheng, additional, Cheong, Augustine W O, additional, Mok, Shi Qi, additional, Soo, Hui Meng, additional, Chen, Xiao Yin, additional, Peh, Su Qin, additional, Heng, Khai Koon, additional, Husain, Rahat, additional, Ho, Su-Ling, additional, Hillmer, Axel M, additional, Cheng, Ching-Yu, additional, Escudero-Domínguez, Francisco A, additional, González-Sarmiento, Rogelio, additional, Martinon-Torres, Frederico, additional, Salas, Antonio, additional, Pathanapitoon, Kessara, additional, Hansapinyo, Linda, additional, Wanichwecharugruang, Boonsong, additional, Kitnarong, Naris, additional, Sakuntabhai, Anavaj, additional, Nguyn, Hip X, additional, Nguyn, Giang T T, additional, Nguyn, Trình V, additional, Zenz, Werner, additional, Binder, Alexander, additional, Klobassa, Daniela S, additional, Hibberd, Martin L, additional, Davila, Sonia, additional, Herms, Stefan, additional, Nöthen, Markus M, additional, Moebus, Susanne, additional, Rautenbach, Robyn M, additional, Ziskind, Ari, additional, Carmichael, Trevor R, additional, Ramsay, Michele, additional, Álvarez, Lydia, additional, García, Montserrat, additional, González-Iglesias, Héctor, additional, Rodríguez-Calvo, Pedro P, additional, Fernández-Vega Cueto, Luis, additional, Oguz, Çilingir, additional, Tamcelik, Nevbahar, additional, Atalay, Eray, additional, Batu, Bilge, additional, Aktas, Dilek, additional, Kasım, Burcu, additional, Wilson, M Roy, additional, Coleman, Anne L, additional, Liu, Yutao, additional, Challa, Pratap, additional, Herndon, Leon, additional, Kuchtey, Rachel W, additional, Kuchtey, John, additional, Curtin, Karen, additional, Chaya, Craig J, additional, Crandall, Alan, additional, Zangwill, Linda M, additional, Wong, Tien Yin, additional, Nakano, Masakazu, additional, Kinoshita, Shigeru, additional, den Hollander, Anneke I, additional, Vesti, Eija, additional, Fingert, John H, additional, Lee, Richard K, additional, Sit, Arthur J, additional, Shingleton, Bradford J, additional, Wang, Ningli, additional, Cusi, Daniele, additional, Qamar, Raheel, additional, Kraft, Peter, additional, Pericak-Vance, Margaret A, additional, Raychaudhuri, Soumya, additional, Heegaard, Steffen, additional, Kivelä, Tero, additional, Reis, André, additional, Kruse, Friedrich E, additional, Weinreb, Robert N, additional, Pasquale, Louis R, additional, Haines, Jonathan L, additional, Thorsteinsdottir, Unnur, additional, Jonasson, Fridbert, additional, Allingham, R Rand, additional, Milea, Dan, additional, Ritch, Robert, additional, Kubota, Toshiaki, additional, Tashiro, Kei, additional, Vithana, Eranga N, additional, Micheal, Shazia, additional, Topouzis, Fotis, additional, Craig, Jamie E, additional, Dubina, Michael, additional, Sundaresan, Periasamy, additional, Stefansson, Kari, additional, Wiggs, Janey L, additional, Pasutto, Francesca, additional, and Khor, Chiea Chuen, additional

Published
2017
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20. Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.

Author

Hauser, Michael A., Allingham, R. Rand, Aung, Tin, Van Der Heide, Carly J., Taylor, Kent D., Rotter, Jerome I., Wang, Shih-Hsiu J., Bonnemaijer, Pieter W. M., Williams, Susan E., Abdullahi, Sadiq M., Abu-Amero, Khaled K., Anderson, Michael G., Akafo, Stephen, Alhassan, Mahmoud B., Asimadu, Ifeoma, Ayyagari, Radha, Bakayoko, Saydou, Nyamsi, Prisca Biangoup, Bowden, Donald W., and Bromley, William C.

Abstract

Importance: Primary open-angle glaucoma presents with increased prevalence and a higher degree of clinical severity in populations of African ancestry compared with European or Asian ancestry. Despite this, individuals of African ancestry remain understudied in genomic research for blinding disorders.Objectives: To perform a genome-wide association study (GWAS) of African ancestry populations and evaluate potential mechanisms of pathogenesis for loci associated with primary open-angle glaucoma.Design, Settings, and Participants: A 2-stage GWAS with a discovery data set of 2320 individuals with primary open-angle glaucoma and 2121 control individuals without primary open-angle glaucoma. The validation stage included an additional 6937 affected individuals and 14 917 unaffected individuals using multicenter clinic- and population-based participant recruitment approaches. Study participants were recruited from Ghana, Nigeria, South Africa, the United States, Tanzania, Britain, Cameroon, Saudi Arabia, Brazil, the Democratic Republic of the Congo, Morocco, Peru, and Mali from 2003 to 2018. Individuals with primary open-angle glaucoma had open iridocorneal angles and displayed glaucomatous optic neuropathy with visual field defects. Elevated intraocular pressure was not included in the case definition. Control individuals had no elevated intraocular pressure and no signs of glaucoma.Exposures: Genetic variants associated with primary open-angle glaucoma.Main Outcomes and Measures: Presence of primary open-angle glaucoma. Genome-wide significance was defined as P < 5 × 10-8 in the discovery stage and in the meta-analysis of combined discovery and validation data.Results: A total of 2320 individuals with primary open-angle glaucoma (mean [interquartile range] age, 64.6 [56-74] years; 1055 [45.5%] women) and 2121 individuals without primary open-angle glaucoma (mean [interquartile range] age, 63.4 [55-71] years; 1025 [48.3%] women) were included in the discovery GWAS. The GWAS discovery meta-analysis demonstrated association of variants at amyloid-β A4 precursor protein-binding family B member 2 (APBB2; chromosome 4, rs59892895T>C) with primary open-angle glaucoma (odds ratio [OR], 1.32 [95% CI, 1.20-1.46]; P = 2 × 10-8). The association was validated in an analysis of an additional 6937 affected individuals and 14 917 unaffected individuals (OR, 1.15 [95% CI, 1.09-1.21]; P < .001). Each copy of the rs59892895*C risk allele was associated with increased risk of primary open-angle glaucoma when all data were included in a meta-analysis (OR, 1.19 [95% CI, 1.14-1.25]; P = 4 × 10-13). The rs59892895*C risk allele was present at appreciable frequency only in African ancestry populations. In contrast, the rs59892895*C risk allele had a frequency of less than 0.1% in individuals of European or Asian ancestry.Conclusions and Relevance: In this genome-wide association study, variants at the APBB2 locus demonstrated differential association with primary open-angle glaucoma by ancestry. If validated in additional populations this finding may have implications for risk assessment and therapeutic strategies. [ABSTRACT FROM AUTHOR]

Published
2019
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21. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

Author

Daniele Cusi, Etsuo Chihara, Leyla Al-Jasim, Ya Xing Wang, Tero Kivelä, Jinghong Sang, Adeyinka O. Ashaye, Bowen Zhao, Tan Do, Susanne Moebus, Ursula Schlötzer-Schrehardt, Shamira A. Perera, Augustine W O Cheong, Afsaneh Naderi Beni, Francisco A. Escudero-Domínguez, Yoshiaki Kiuchi, Tomomi Higashide, DS Klobassa, Friedrich E. Kruse, Nicole Weisschuh, Chunyan Qiao, Muhammad Imran Khan, Martin L. Hibberd, Arthur J. Sit, Jamie E Craig, Akitoshi Yoshida, Periasamy Sundaresan, Humaira Ayub, Kathryn P. Burdon, Jonathan G Crowston, Kazunori Miyata, Marisa Cruz-Aguilar, Markus M. Nöthen, Hasnaa Lamari, Michael A. Hauser, Louis R. Pasquale, Anneke I. den Hollander, Eija Vesti, Ursula Hoja, Raphael Q Soh, Burcu Kasım, Adeola O Onakoya, Rachel W. Kuchtey, Eugeny L. Akopov, Liang Xu, Juan Carlos Zenteno, Chaiwat Teekhasaenee, Saleh A. Al-Obeidan, Eleftherios Anastasopoulos, Anita S Y Chan, Nagahisa Yoshimura, John Kuchtey, Naris Kitnarong, Yaan Fun Chong, Boonsong Wanichwecharugruang, R.R. Fayzrakhmanov, Paul Mitchell, N Kalpana, Unnur Thorsteinsdottir, Kei Tashiro, Rajesh Kumar, Jin Wook Jeoung, Deepak P. Edward, Frederico Martinon-Torres, Bilge Batu, Anavaj Sakuntabhai, Robert N. Weinreb, Héctor González-Iglesias, Sasan Moghimi, Jia Nee Foo, Nkechi J Uche, Karen Curtin, Kenji Inoue, Lingam Vijaya, Makoto Aihara, Dilek Aktas, Norimoto Gotoh, Wasu Supakontanasan, Laura Dallorto, Takako Sugimoto, Jonathan L. Haines, Olusola Olawoye, Janey L. Wiggs, Sripriya Sarangapani, Craig J. Chaya, Theofanis Pappas, Fotis Topouzis, Eranga N. Vithana, Steffen Heegaard, Fridbert Jonasson, Kazuhiko Mori, Idakwo Ugbede, Hongyan Jia, Anthi Chatzikyriakidou, Robert P. Igo, Soon Cheol Cha, Yueming Chen, Su-Ling Ho, Zhenglin Yang, Jost B. Jonas, Francesca Pasutto, Ken Hayashi, Rahat Husain, Georg Mossböck, S Fabian Lerner, R. Rand Allingham, Priti Sahay, Fumihiko Matsuda, Yanin Suwan, Teresa Rolle, Robert Ritch, Peter Kraft, Trevor R. Carmichael, Kar Seng Sim, Raheel Qamar, Gordana Sunaric Megevand, Tomasz Zarnowski, Shazia Micheal, Scott Thomas, Paolo Frezzotti, Vera Vysochinskaya, Linda M. Zangwill, Alina Popa Cherecheanu, Tin Aung, Jessica N. Cooke Bailey, Kyu Hyung Park, Edward Dervan, Suhanya Okeke, Pablo Fornero, Sidi M Ezzouhairi, Pascal Reynier, Gudmar Thorleifsson, Michael V. Dubina, Kazuhisa Sugiyama, Sylvain Roy, Per Kappelgaard, Mineo Ozaki, Vijayan Saravanan, Carlo Lavia, Wenda L. Greer, Takanori Mizoguchi, Alireza Lashay, A. Binder, Daniel Berner, Su Qin Peh, Balram Chowbay, Nino Kobakhidze, Ifeoma N. Asimadu, Delia Sivori, Gopalakrishnan Prakadeeswari, Alexandros Lambropoulos, Michael Coote, Sergei Y. Astakhov, Shahin Yazdani, Dan Milea, Montserrat García, Lydia Álvarez, Kenji Yamashiro, Soumya Raychaudhuri, Pratap Challa, Aparna Rao, Jae H. Kang, Khai Koon Heng, Richard K. Lee, Tien Yin Wong, Alex W. Hewitt, Yoko Ikeda, Kessara Pathanapitoon, Panayiota Founti, Daniella Bach-Holm, Emmanuelle Souzeau, Margaret A. Pericak-Vance, Michèle Ramsay, Nkiru Kizor-Akaraiwe, Yosai Mori, Antonio Maria Fea, Chandrashekaran Shivkumar, Xiao Yu Ng, Jie Jin Wang, Erika Salvi, Giang T T Nguyn, Steffen Uebe, Tamara Zompa, Anne L. Coleman, Werner Zenz, Min Sagong, Luis Fernández-Vega Cueto, Farah Akhtar, Susan Williams, Sarah C. Nelson, Bradford J. Shingleton, Ryuichi Ideta, Leon W. Herndon, Zheng Li, Murat Irkec, M. Roy Wilson, Ewa Kosior-Jarecka, Christian Y. Mardin, Mozhgan Rezaei Kanavi, Tsutomu Ohashi, Abderrahman Rafei, Rengaraj Venkatesh, Stefan Herms, George Chichua, Mohammad Pakravan, Robyn M. Rautenbach, Shi Qi Mok, Trình V Nguyn, Patricio G. Schlottmann, Nassim Khatibi, Daniel Gaston, Masaru Inatani, Morio Ueno, Mukharram M. Bikbov, Eoin Silke, Homa Naderifar, Linda Hansapinyo, Paolo Manunta, Z. Xie, Urszula Lukasik, Eray Atalay, Lulin Huang, Xuyang Liu, Chie Sotozono, Shuang Ru Goh, John H. Fingert, Richard A. Mills, Khaled K. Abu-Amero, Xiao Yin Chen, Matthias Zenkel, Sergo Tabagari, Irma Järvelä, Xueyi Chen, Stéphanie Leruez, Yury S. Astakhov, Sonia Davila, Yildirim Nilgün, Ronnie George, Shin-ichi Manabe, Miguel Coca-Prados, Masahiro Miyake, Ignacio Lischinsky, Rogelio González-Sarmiento, Arkasubhra Ghosh, A. Emelyanov, Çilingir Oguz, Masakazu Nakano, Rohit Shetty, Karen Bedard, Toshiya Sakurai, Yutao Liu, Barbara M Wirostko, Hui Zhang, Ulrich-Christoph Welge-Luessen, Toshiaki Kubota, Vania Castro, Hip X Nguyn, Liyun Jia, Ari Ziskind, Hideki Chuman, Andrew C. Orr, Satoko Nakano, Daniela Paoli, Masahide Yanagi, Aravind Haripriya, Kari Stefansson, Pedro Pablo Rodríguez-Calvo, Hui Meng Soo, Chiea Chuen Khor, Gyulli M. Kazakbaeva, Osvaldo Cuello, Mei Chin Lee, Ki Ho Park, Natalia Porporato, Lourdes de Juan Marcos, Ching-Yu Cheng, Shigeyasu Kazama, Shigeru Kinoshita, Axel M. Hillmer, Alan S. Crandall, Victor H. K. Yong, Ohoud Owaidhah, Rodolfo Perez Grossmann, Jeeyun Ahn, André Reis, Nevbahar Tamçelik, Satoshi Ishiko, Antonio Salas, Ningli Wang, Singapore Eye Research Institute [Singapore] (SERI), Ozaki Eye Hospital [Miyazaki], Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), deCODE genetics [Reykjavik], Mizoguchi Eye Hospital [Sasebo], Case Western Reserve University [Cleveland], Aravind Eye Hospital [Madurai, India], University of the Witwatersrand [Johannesburg] (WITS), Pavlov First Saint Petersburg State Medical University [St. Petersburg], Dalhousie University [Halifax], Flinders University [Adelaide, Australia], Kyoto Prefectural University of Medicine [Kyoto, Japon], King Saud University [Riyadh] (KSU), Genome Institute of Singapore (GIS), Aravind Medical Research Foundation (AMRF), Université de Médecine Carol Davila, Harvard Medical School [Boston] (HMS), University of Washington [Seattle], Hayashi Eye Hospital [Fukuoka], Shinjo Eye Clinic [Nagoya], Medical University of Lublin, Inoue Eye Hospital [Tokyo], Hacettepe University = Hacettepe Üniversitesi, Universidad de Oviedo [Oviedo], Kanazawa University (KU), Department of Medical and Clinical Genetics [Helsinki], Haartman Institute [Helsinki], Faculty of Medecine [Helsinki], Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Faculty of Medecine [Helsinki], Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Organizacion Medica de Investigacion (OMI BUENOS AIRES), Fundacion para el Estudio del Glaucoma [Buenos Aires], Chercheur indépendant, Eskisehir Osmangazi University, Ufa Eye Research Institute [Bashkortostan], Seoul National University Hospital, Yeungnam University [South Korea], Kyoto University, Universidad Nacional Autónoma de México = National Autonomous University of Mexico (UNAM), Universität Heidelberg [Heidelberg] = Heidelberg University, Birla Institute of Scientific Research (BISR), B. M. Birla Science and Technology Center, Faculty of Computer Science, Department of Pathology and Immunology, Geneva University Hospital (HUG), Key Laboratory for Information System Security, ministry of education, Numerical modeling and high performance computing for evolution problems in complex domains and heterogeneous media (NACHOS), Inria Sophia Antipolis - Méditerranée (CRISAM), Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire Jean Alexandre Dieudonné (LJAD), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA)-Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Institute of Human Genetics [Erlangen, Allemagne], Department of Ophthalmology, School of Medicine [Thessaloniki, Grèce], Aristotle University of Thessaloniki, Università degli Studi di Siena = University of Siena (UNISI), Department of Medicine, Surgery, and Dentistry, University of Milano, Japan Advanced Institute of Science and Technology (JAIST), Etudes génomiques trans-ethniques des maladies multifactorielles, Kyoto University-Institut National de la Santé et de la Recherche Médicale (INSERM), Fondation Ophtalmologique Adolphe de Rothschild [Paris], Archaeogenetics Laboratory, Génétique fonctionnelle des Maladies infectieuses - Functional Genetics of Infectious Diseases, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Rheinische Friedrich-Wilhelms-Universität Bonn, University of Kentucky (UK), Helsinki University Eye Hospital, Turku University Hospital, Turku, Finland, COMSATS Institute of Information Technology (CIIT), Department of Epidemiology, Harvard School of Public Health, University of Miami Leonard M. Miller School of Medicine (UMMSM), Brigham and Women's Hospital [Boston], Department of Neuroscience and Pharmacology, Section of Eye Pathology, University of Copenhagen, University of Copenhagen = Københavns Universitet (UCPH), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, University of California [San Diego] (UC San Diego), University of California (UC), University of Iceland [Reykjavik], New York Eye and Ear Infirmary of Mount Sinai [New York] (NYEE), Oita University Faculty of Medicine [Oita, Japon], Radboud University Medical Center [Nijmegen], Oogheelkunde, RS: FHML non-thematic output, Kyoto University [Kyoto], Universidad Nacional Autónoma de México (UNAM), Universität Heidelberg [Heidelberg], Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire Jean Alexandre Dieudonné (JAD), Dipartimento di Scienze oftalmologiche e Neurochirurgiche, Universita' degli Studi di Siena, Siena, Kyoto University [Kyoto]-Institut National de la Santé et de la Recherche Médicale (INSERM), Rothschild Hospital, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), University of Kentucky, University of Copenhagen = Københavns Universitet (KU), University of California, Aung, Tin, Ozaki, Mineo, Lee, Mei Chin, Schlötzer Schrehardt, Ursula, Thorleifsson, Gudmar, Mizoguchi, Takanori, Igo, Robert P, Haripriya, Aravind, Williams, Susan E, Astakhov, Yury S, Orr, Andrew C, Burdon, Kathryn P, Nakano, Satoko, Mori, Kazuhiko, Abu Amero, Khaled, Hauser, Michael, Li, Zheng, Prakadeeswari, Gopalakrishnan, Bailey, Jessica N. Cooke, Cherecheanu, Alina Popa, Kang, Jae H, Nelson, Sarah, Hayashi, Ken, Manabe, Shin Ichi, Kazama, Shigeyasu, Zarnowski, Tomasz, Inoue, Kenji, Irkec, Murat, Coca Prados, Miguel, Sugiyama, Kazuhisa, Järvelä, Irma, Schlottmann, Patricio, Lerner, S. Fabian, Lamari, Hasnaa, Nilgün, Yildirim, Bikbov, Mukharram, Park, Ki Ho, Cha, Soon Cheol, Yamashiro, Kenji, Zenteno, Juan C, Jonas, Jost B, Kumar, Rajesh S, Perera, Shamira A, Chan, Anita S. Y, Kobakhidze, Nino, George, Ronnie, Vijaya, Lingam, Do, Tan, Edward, Deepak P, de Juan Marcos, Lourde, Pakravan, Mohammad, Moghimi, Sasan, Ideta, Ryuichi, Bach Holm, Daniella, Kappelgaard, Per, Wirostko, Barbara, Thomas, Samuel, Gaston, Daniel, Bedard, Karen, Greer, Wenda L, Yang, Zhenglin, Chen, Xueyi, Huang, Lulin, Sang, Jinghong, Jia, Hongyan, Jia, Liyun, Qiao, Chunyan, Zhang, Hui, Liu, Xuyang, Zhao, Bowen, Wang, Ya Xing, Xu, Liang, Leruez, Stéphanie, Reynier, Pascal, Chichua, George, Tabagari, Sergo, Uebe, Steffen, Zenkel, Matthia, Berner, Daniel, Mossböck, Georg, Weisschuh, Nicole, Hoja, Ursula, Welge Luessen, Ulrich Christoph, Mardin, Christian, Founti, Panayiota, Chatzikyriakidou, Anthi, Pappas, Theofani, Anastasopoulos, Eleftherio, Lambropoulos, Alexandro, Ghosh, Arkasubhra, Shetty, Rohit, Porporato, Natalia, Saravanan, Vijayan, Venkatesh, Rengaraj, Shivkumar, Chandrashekaran, Kalpana, Narendran, Sarangapani, Sripriya, Kanavi, Mozhgan R, Beni, Afsaneh Naderi, Yazdani, Shahin, Lashay, Alireza, Naderifar, Homa, Khatibi, Nassim, Fea, Antonio, Lavia, Carlo, Dallorto, Laura, Rolle, Teresa, Frezzotti, Paolo, Paoli, Daniela, Salvi, Erika, Manunta, Paolo, Mori, Yosai, Miyata, Kazunori, Higashide, Tomomi, Chihara, Etsuo, Ishiko, Satoshi, Yoshida, Akitoshi, Yanagi, Masahide, Kiuchi, Yoshiaki, Ohashi, Tsutomu, Sakurai, Toshiya, Sugimoto, Takako, Chuman, Hideki, Aihara, Makoto, Inatani, Masaru, Miyake, Masahiro, Gotoh, Norimoto, Matsuda, Fumihiko, Yoshimura, Nagahisa, Ikeda, Yoko, Ueno, Morio, Sotozono, Chie, Jeoung, Jin Wook, Sagong, Min, Park, Kyu Hyung, Ahn, Jeeyun, Cruz Aguilar, Marisa, Ezzouhairi, Sidi M, Rafei, Abderrahman, Chong, Yaan Fun, Ng, Xiao Yu, Goh, Shuang Ru, Chen, Yueming, Yong, Victor H. K, Khan, Muhammad Imran, Olawoye, Olusola O, Ashaye, Adeyinka O, Ugbede, Idakwo, Onakoya, Adeola, Kizor Akaraiwe, Nkiru, Teekhasaenee, Chaiwat, Suwan, Yanin, Supakontanasan, Wasu, Okeke, Suhanya, Uche, Nkechi J, Asimadu, Ifeoma, Ayub, Humaira, Akhtar, Farah, Kosior Jarecka, Ewa, Lukasik, Urszula, Lischinsky, Ignacio, Castro, Vania, Grossmann, Rodolfo Perez, Megevand, Gordana Sunaric, Roy, Sylvain, Dervan, Edward, Silke, Eoin, Rao, Aparna, Sahay, Priti, Fornero, Pablo, Cuello, Osvaldo, Sivori, Delia, Zompa, Tamara, Mills, Richard A, Souzeau, Emmanuelle, Mitchell, Paul, Wang, Jie Jin, Hewitt, Alex W, Coote, Michael, Crowston, Jonathan G, Astakhov, Sergei Y, Akopov, Eugeny L, Emelyanov, Anton, Vysochinskaya, Vera, Kazakbaeva, Gyulli, Fayzrakhmanov, Rinat, Al Obeidan, Saleh A, Owaidhah, Ohoud, Aljasim, Leyla Ali, Chowbay, Balram, Foo, Jia Nee, Soh, Raphael Q, Sim, Kar Seng, Xie, Zhicheng, Cheong, Augustine W. O, Mok, Shi Qi, Soo, Hui Meng, Chen, Xiao Yin, Peh, Su Qin, Heng, Khai Koon, Husain, Rahat, Ho, Su Ling, Hillmer, Axel M, Cheng, Ching Yu, Escudero Domínguez, Francisco A, González Sarmiento, Rogelio, Martinon Torres, Frederico, Salas, Antonio, Pathanapitoon, Kessara, Hansapinyo, Linda, Wanichwecharugruang, Boonsong, Kitnarong, Nari, Sakuntabhai, Anavaj, Nguyn, Hip X, Nguyn, Giang T. T, Nguyn, Trình V, Zenz, Werner, Binder, Alexander, Klobassa, Daniela S, Hibberd, Martin L, Davila, Sonia, Herms, Stefan, Nöthen, Markus M, Moebus, Susanne, Rautenbach, Robyn M, Ziskind, Ari, Carmichael, Trevor R, Ramsay, Michele, Álvarez, Lydia, García, Montserrat, González Iglesias, Héctor, Rodríguez Calvo, Pedro P, Cueto, Luis Fernández Vega, Oguz, Çilingir, Tamcelik, Nevbahar, Atalay, Eray, Batu, Bilge, Aktas, Dilek, Kasım, Burcu, Wilson, M. Roy, Coleman, Anne L, Liu, Yutao, Challa, Pratap, Herndon, Leon, Kuchtey, Rachel W, Kuchtey, John, Curtin, Karen, Chaya, Craig J, Crandall, Alan, Zangwill, Linda M, Wong, Tien Yin, Nakano, Masakazu, Kinoshita, Shigeru, den Hollander, Anneke I, Vesti, Eija, Fingert, John H, Lee, Richard K, Sit, Arthur J, Shingleton, Bradford J, Wang, Ningli, Cusi, Daniele, Qamar, Raheel, Kraft, Peter, Pericak Vance, Margaret A, Raychaudhuri, Soumya, Heegaard, Steffen, Kivelä, Tero, Reis, André, Kruse, Friedrich E, Weinreb, Robert N, Pasquale, Louis R, Haines, Jonathan L, Thorsteinsdottir, Unnur, Jonasson, Fridbert, Allingham, R. Rand, Milea, Dan, Ritch, Robert, Kubota, Toshiaki, Tashiro, Kei, Vithana, Eranga N, Micheal, Shazia, Topouzis, Foti, Craig, Jamie E, Dubina, Michael, Sundaresan, Periasamy, Stefansson, Kari, Wiggs, Janey L, Pasutto, Francesca, Khor, Chiea Chuen, University of Helsinki-University of Helsinki-Faculty of Medecine [Helsinki], University of Helsinki-University of Helsinki, Université Côte d'Azur (UCA)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], and University of Helsinki

Subjects
0301 basic medicine, Male, Calcium Channels/genetics, Messenger, Medizin, PSEUDOEXFOLIATION SYNDROME, Genome-wide association study, BLOOD-PRESSURE, Disease, Exfoliation Syndrome, Eye, Exfoliation Syndrome/ethnology/genetics, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 0302 clinical medicine, PARKINSONS-DISEASE, 80 and over, ta319, Missense mutation, Genetics, Aged, 80 and over, Amino Acid Oxidoreductases/genetics/physiology, Alleles, Amino Acid Oxidoreductases, Amino Acid Substitution, Asian Continental Ancestry Group, Calcium Channels, Cell Adhesion, Extracellular Matrix, Female, Gene Expression Profiling, Genetic Predisposition to Disease, Haplotypes, Humans, Molecular Chaperones, RNA, Messenger, Spheroids, Cellular, Genome-Wide Association Study, Mutation, Missense, Point Mutation, Metaanalysis, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], 3. Good health, ALZHEIMERS-DISEASE, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Molecular Chaperones/biosynthesis/genetics, Biology, SYNONYMOUS MUTATIONS, ta3111, Article, 03 medical and health sciences, Asian People, Asian Continental Ancestry Group/genetics, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, Allele, Risk factor, GENOME-WIDE ASSOCIATION, Eye/metabolism, Aged, Genetic association, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], Haplotype, Individuals, Glaucoma, Odds ratio, Extracellular Matrix/metabolism, RNA, Messenger/biosynthesis, MACULAR DEGENERATION, RISK LOCI, eye diseases, COMMON SEQUENCE VARIANTS, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, 030221 ophthalmology & optometry, RNA, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Cellular, Spheroids, Missense, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], Polymorphisms, purl.org/pe-repo/ocde/ford#1.06.07 [https], INFLAMMATORY-BOWEL-DISEASE
Abstract

International audience; Exfoliation syndrome (XFS) is the commonest known risk factor for secondary glaucoma and a significant cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A have been previously associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results between populations,and to identify new variants associated with XFS. We identified a rare, protective allele at LOXL1 (p.407Phe, OR= 25, P=2.9 x 10-14) through deep resequencing of XFS cases and controls from 9 countries. This variant results in increased cellular adhesion strength compared to the wild-type (p.407Tyr) allele. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci (P < 5 x 10-8). Index variants at the new loci map to chromosomes 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS, and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology.

Published
2017
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