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118 results on '"Akhtar, Farah"'

1. Unearthing the Nexus between ESG and Financial Performance: Does Company Size and Age Matter?

Author

Akhtar, Farah, Senadjki, Abdelhak, Kumaran, Vikniswari Vija, Appolloni, Andrea, Series Editor, Caracciolo, Francesco, Series Editor, Ding, Zhuoqi, Series Editor, Gogas, Periklis, Series Editor, Huang, Gordon, Series Editor, Nartea, Gilbert, Series Editor, Ngo, Thanh, Series Editor, Striełkowski, Wadim, Series Editor, Choong, Yuen Onn, editor, Chen, Fanyu, editor, Choo, Keng Soon William, editor, Lee, Voon Hsien, editor, and Wei, Chooi Yi, editor

Published
2023
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3. Glaucoma Genetics in Pakistan

Author

Ayub, Humaira, Azam, Maleeha, Micheal, Shazia, Imran Khan, Muhammad, Akhtar, Farah, Khor, Chiea Chuen, Aung, Tin, den Hollander, Anneke, Qamar, Raheel, Singh, Arun D., Series Editor, Prakash, Gyan, editor, and Iwata, Takeshi, editor

Published
2021
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4. Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

Author

Khor, Chiea Chuen, Do, Tan, Jia, Hongyan, Nakano, Masakazu, George, Ronnie, Abu-Amero, Khaled, Duvesh, Roopam, Chen, Li Jia, Li, Zheng, Nongpiur, Monisha E, Perera, Shamira A, Qiao, Chunyan, Wong, Hon-Tym, Sakai, Hiroshi, Barbosa de Melo, Mônica, Lee, Mei-Chin, Chan, Anita S, Azhany, Yaakub, Dao, Thi Lam Huong, Ikeda, Yoko, Perez-Grossmann, Rodolfo A, Zarnowski, Tomasz, Day, Alexander C, Jonas, Jost B, Tam, Pancy OS, Tran, Tuan Anh, Ayub, Humaira, Akhtar, Farah, Micheal, Shazia, Chew, Paul TK, Aljasim, Leyla A, Dada, Tanuj, Luu, Tam Thi, Awadalla, Mona S, Kitnarong, Naris, Wanichwecharungruang, Boonsong, Aung, Yee Yee, Mohamed-Noor, Jelinar, Vijayan, Saravanan, Sarangapani, Sripriya, Husain, Rahat, Jap, Aliza, Baskaran, Mani, Goh, David, Su, Daniel H, Wang, Huaizhou, Yong, Vernon K, Yip, Leonard W, Trinh, Tuyet Bach, Makornwattana, Manchima, Nguyen, Thanh Thu, Leuenberger, Edgar U, Park, Ki-Ho, Wiyogo, Widya Artini, Kumar, Rajesh S, Tello, Celso, Kurimoto, Yasuo, Thapa, Suman S, Pathanapitoon, Kessara, Salmon, John F, Sohn, Yong Ho, Fea, Antonio, Ozaki, Mineo, Lai, Jimmy SM, Tantisevi, Visanee, Khaing, Chaw Chaw, Mizoguchi, Takanori, Nakano, Satoko, Kim, Chan-Yun, Tang, Guangxian, Fan, Sujie, Wu, Renyi, Meng, Hailin, Nguyen, Thi Thuy Giang, Tran, Tien Dat, Ueno, Morio, Martinez, Jose Maria, Ramli, Norlina, Aung, Yin Mon, Reyes, Rigo Daniel, Vernon, Stephen A, Fang, Seng Kheong, Xie, Zhicheng, Chen, Xiao Yin, Foo, Jia Nee, Sim, Kar Seng, Wong, Tina T, Quek, Desmond T, Venkatesh, Rengaraj, Kavitha, Srinivasan, Krishnadas, Subbiah R, Soumittra, Nagaswamy, Shantha, Balekudaru, Lim, Boon-Ang, Ogle, Jeanne, de Vasconcellos, José PC, Costa, Vital P, Abe, Ricardo Y, de Souza, Bruno B, and Sng, Chelvin C

Subjects
Neurodegenerative, Human Genome, Eye Disease and Disorders of Vision, Aging, Genetics, Cell Line, Chromosome Mapping, Female, Gene Expression, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Glaucoma, Angle-Closure, Humans, Male, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10(-15)), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10(-16)), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10(-12)). We also confirmed significant association at three previously described loci (P < 5 × 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.

Published
2016

21. The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome

Author

Berner, Daniel, primary, Hoja, Ursula, additional, Zenkel, Matthias, additional, Ross, James Julian, additional, Uebe, Steffen, additional, Paoli, Daniela, additional, Frezzotti, Paolo, additional, Rautenbach, Robyn M, additional, Ziskind, Ari, additional, Williams, Susan E, additional, Carmichael, Trevor R, additional, Ramsay, Michele, additional, Topouzis, Fotis, additional, Chatzikyriakidou, Anthi, additional, Lambropoulos, Alexandros, additional, Sundaresan, Periasamy, additional, Ayub, Humaira, additional, Akhtar, Farah, additional, Qamar, Raheel, additional, Zenteno, Juan C, additional, Cruz-Aguilar, Marisa, additional, Astakhov, Yury S, additional, Dubina, Michael, additional, Wiggs, Janey, additional, Ozaki, Mineo, additional, Kruse, Friedrich E, additional, Aung, Tin, additional, Reis, André, additional, Khor, Chiea Chuen, additional, Pasutto, Francesca, additional, and Schlötzer-Schrehardt, Ursula, additional

Published
2019
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22. Association of rs10490924 in ARMS2 / HTRA1 with age‐related macular degeneration in the Pakistani population

Author

Ayub, Humaira, primary, Shafique, Sobia, additional, Azam, Aisha, additional, Muslim, Irfan, additional, Qazi, Nauman A, additional, Akhtar, Farah, additional, Khan, Muhammad Asim, additional, Ayub, Adil, additional, Bashir, Shaheena, additional, Bakker, Bjorn, additional, Ahmed, Shakil, additional, Azam, Maleeha, additional, Hollander, Anneke I., additional, and Qamar, Raheel, additional

Published
2019
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23. Variants in the PRPF8 Gene are Associated with Glaucoma

Author

Micheal, S., Hogewind, B.F., Khan, M.I., Siddiqui, Sorath Noorani, Zafar, Saemah Nuzhat, Akhtar, Farah, Hoyng, C.B., Hollander, A.I. den, Micheal, S., Hogewind, B.F., Khan, M.I., Siddiqui, Sorath Noorani, Zafar, Saemah Nuzhat, Akhtar, Farah, Hoyng, C.B., and Hollander, A.I. den

Abstract

Contains fulltext : 190764.pdf (Publisher’s version ) (Open Access)

Published
2018

27. 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

29. Variants in the PRPF8 Gene are Associated with Glaucoma

Author

Micheal, Shazia, primary, Hogewind, Barend F., additional, Khan, Muhammad Imran, additional, Siddiqui, Sorath Noorani, additional, Zafar, Saemah Nuzhat, additional, Akhtar, Farah, additional, Qamar, Raheel, additional, Hoyng, Carel B., additional, and den Hollander, Anneke I., additional

Published
2017
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30. 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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31. protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome.

Author

Berner, Daniel, Hoja, Ursula, Zenkel, Matthias, Ross, James Julian, Uebe, Steffen, Paoli, Daniela, Frezzotti, Paolo, Rautenbach, Robyn M, Ziskind, Ari, Williams, Susan E, Carmichael, Trevor R, Ramsay, Michele, Topouzis, Fotis, Chatzikyriakidou, Anthi, Lambropoulos, Alexandros, Sundaresan, Periasamy, Ayub, Humaira, Akhtar, Farah, Qamar, Raheel, and Zenteno, Juan C

Published
2019
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33. Variants in the <italic>PRPF8</italic> Gene are Associated with Glaucoma.

Author

Micheal, Shazia, Hogewind, Barend F., Khan, Muhammad Imran, Siddiqui, Sorath Noorani, Zafar, Saemah Nuzhat, Akhtar, Farah, Qamar, Raheel, Hoyng, Carel B., and den Hollander, Anneke I.

Abstract

Glaucoma is the cause of irreversible blindness worldwide. Mutations in six genes have been associated with juvenile- and adult-onset familial primary open angle glaucoma (POAG) prior to this report but they explain only a small proportion of the genetic load. The aim of the study is to identify the novel genetic cause of the POAG in the families with adult-onset glaucoma. Whole exome sequencing (WES) was performed on DNA of two affected individuals, and predicted pathogenic variants were evaluated for segregation in four affected and three unaffected Dutch family members by Sanger sequencing. We identified a pathogenic variant (p.Val956Gly) in the PRPF8 gene, which segregates with the disease in Dutch family. Targeted Sanger sequencing of PRPF8 in a panel of 40 POAG families (18 Pakistani and 22 Dutch) revealed two additional nonsynonymous variants (p.Pro13Leu and p.Met25Thr), which segregate with the disease in two other Pakistani families. Both variants were then analyzed in a case-control cohort consisting of Pakistani 320 POAG cases and 250 matched controls. The p.Pro13Leu and p.Met25Thr variants were identified in 14 and 20 cases, respectively, while they were not detected in controls (p values 0.0004 and 0.0001, respectively). Previously, PRPF8 mutations have been associated with autosomal dominant retinitis pigmentosa (RP). The PRPF8 variants associated with POAG are located at the N-terminus, while all RP-associated mutations cluster at the C-terminus, dictating a clear genotype-phenotype correlation. [ABSTRACT FROM AUTHOR]

Published
2018
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34. Trabeculectomy Surgery by Glaucoma Trainee Fellows at a Tertiary Care Hospital.

Author

Mahsood, Yousaf Jamal, Ali, Mahmood, Farooq, Saima, and Akhtar, Farah

Subjects
EYE diseases, TRABECULECTOMY, POSTOPERATIVE care, GLAUCOMA treatment, FILTERING surgery
Abstract

Purpose: To determine the outcomes of trabeculectomy surgery performed by a recently trained Fellow in glaucoma. It is a prospective descriptive study. Methods: This study was conducted at Glaucoma clinic of Al-Shifa Trust Eye Hospital, Rawalpindi after approval of ethics committee from 1st Nov. 2015 to 30th June 2017. Patients booked for trabeculectomy with 5-Flurouracil (5FU), whether primary or repeat, were included. All patients were operated by the glaucoma fellowos (GF) under supervision of the faculty. Primary outcome was the success rate of the surgery which was defined as intraocular pressure (IOP) ≤ 18 mmHg & > 5mmHg or IOP reduction ≥ 25% from baseline, with or without additional IOP lowering eye drops. Failure was defined as IOP > 21 mmHg, additional glaucoma surgery, surgical revision/bleb needling (more than twice) after at least two consecutive visits. Secondary outcome of the study was to evaluate the intraoperative, early postoperative (less than six weeks postoperatively) and late postoperative (six weeks or more postoperatively) complications related to the surgery. Results: A total of 52 eyes of 49 patients were analyzed in the study. Mean follow-up time was 11.31 ± 1.69 months, 65.4% (32) were males and 53.8% (28) were the left eyes. Mean preoperative IOP lowered from 27.33 ± 10.15 to 16.98 ± 3.79 mmHg (p < 0.001) and mean number of IOP lowering medications dropped from 3.4 ± 0.82 to 0.37 ± 0.72 (p < 0.001). Kaplan-Meier analysis showed cumulative success rate of 80.8% at one year follow-up. Conclusions: Trabeculectomy surgery by GF has good success rate at end of first year and have overall same complications rates as found in the literature. [ABSTRACT FROM AUTHOR]

Published
2018

36. poster2-2

Author

Akhtar, Farah, Khan, Muhammad Imran, Micheal, Shazia, Ahmed, Asifa, and Raheel Qamar

Published
2010
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37. poster1-1

Author

Akhtar, Farah, Khan, Muhammad Imran, Micheal, Shazia, Ahmed, Asifa, and Raheel Qamar

Published
2010
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40. UREA AND COPPER SULPHATE IN DIFFERENT COMBINATIONS ALTER HAEMATOLOGY AND SOME SERUM PROTEINS IN BROILERS.

Author

Bhatti, S. Shabbir, Javed, M. Tariq, Kausar, Razia, Deeba, Farah, Akhtar, Farah, and Rasool, Akhtar

Subjects
UREA as feed, COPPER sulfate, HEMATOLOGY, BLOOD proteins, BROILER chickens, MONOCYTES, FIBRINOGEN
Abstract

A study was carried out to document the use of urea and copper sulphate in different combinations in broilers as both the compounds are invariably present/used in poultry feed in Pakistan. The total erythrocyte count (TEC), packed cell volume (PCV) and haemoglobin (Hb) showed a decrease, while lymphocytes increase in birds fed higher levels of urea and copper after the second week. The monocytes increased in birds fed lower levels of urea and copper alone after withdrawal period. The serum total proteins and globulins decreased (P<0.05) in birds fed lower levels of copper alone and when higher levels of both the compounds were used together and these remained lower after the end of the withdrawal period. While albumin decreased in birds fed higher levels of both the compounds after the second week of treatment but returned to non-significant levels during the withdrawal period. The fibrinogen concentration increased in birds fed lower levels of urea and copper together, while decreased in birds fed high levels of both the compounds together after the first week of treatment. At the end of the second week, the fibrinogen decreased in birds fed lower levels of urea and copper alone and in those fed higher levels of both the compounds together. However, at the end of withdrawal period fibrinogen showed a decrease in all treatment groups. It was concluded that the hematological parameters especially those related to RBCs and the serum proteins were affected by the combined use of both the compounds at higher levels (2% urea+1000 mg copper sulphate). [ABSTRACT FROM AUTHOR]

Published
2015

42. Association of a Polymorphism in the BIRC6 Gene with Pseudoexfoliative Glaucoma.

Author

Ayub, Humaira, Micheal, Shazia, Akhtar, Farah, Khan, Muhammad Imran, Bashir, Shaheena, Waheed, Nadia K., Ali, Mahmood, Schoenmaker-Koller, Frederieke E., Shafique, Sobia, Qamar, Raheel, and Hollander, Anneke I. den

Subjects
GLAUCOMA, GENETIC polymorphisms, PROTEIN disulfide isomerase, DENATURATION of proteins, ALLELES, SINGLE nucleotide polymorphisms
Abstract

Recently an association was observed between alleles in genes of the unfolded protein response pathway and primary open angle glaucoma (POAG). The goal of the current study is to investigate the role of these two genes, protein disulphide isomerase A member 5 (PDIA5) and baculoviral IAP repeat containing 6 (BIRC6), in different forms of glaucoma. 278 patients with POAG, 132 patients with primary angle closure glaucoma (PACG) and 135 patients with pseudoexfoliative glaucoma (PEXG) were genotyped for single nucleotide polymorphisms (SNPs) rs11720822 in PDIA5 and 471 POAG, 184 PACG and 218 PEXG patients were genotyped for rs2754511 in BIRC6. Genotyping was done by allelic discrimination PCR, and genotype and allele frequencies were calculated. Logistic regression analyses were performed using R software to determine the association of these SNPs with glaucoma. The allele and genotype frequencies of rs11720822 in PDIA5 were not associated with POAG, PACG or PEXG. The TT genotype of rs2754511 in BIRC6 was found to be protective for PEXG (p = 0.05, OR 0.42 [0.22–0.81]) in the Pakistani population, but not for POAG or PACG. This study did not confirm a previously reported association of risk alleles in PDIA5 and BIRC6 with POAG, but did demonstrate a protective role of the T allele of rs2754511 in the BIRC6 gene in PEXG. This supports a role for the unfolded protein response pathway and regulation of apoptotic cell death in the pathogenesis of PEXG. [ABSTRACT FROM AUTHOR]

Published
2014
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49. 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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50. Association of rs10490924 in ARMS2/HTRA1 with age-related macular degeneration in the Pakistani population.

Author

Ayub H, Shafique S, Azam A, Muslim I, Qazi NA, Akhtar F, Khan MA, Ayub A, Bashir S, Bakker B, Ahmed S, Azam M, den Hollander AI, and Qamar R

Subjects
Aged, Case-Control Studies, Female, Gene Frequency, Genetic Association Studies, Genotype, Humans, Macular Degeneration epidemiology, Male, Middle Aged, Odds Ratio, Alleles, Genetic Predisposition to Disease, High-Temperature Requirement A Serine Peptidase 1 genetics, Macular Degeneration diagnosis, Macular Degeneration genetics, Polymorphism, Single Nucleotide, Proteins genetics
Abstract

Age-related macular degeneration (AMD) is a disease of the elderly in which central vision is lost because of degenerative changes of the macula. The current study investigated the association of single-nucleotide polymorphisms (SNPs) with AMD in the Pakistani population. Four SNPs were analyzed in this study: rs1061170 in the CFH, rs429608 near CFB, rs2230199 in the C3, and rs10490924 in ARMS2/HTRA1. This case-control association study was conducted on 300 AMD patients (125 wet AMD and 175 dry AMD) and 200 unaffected age- and gender-matched control individuals. The association of the SNP genotypes and allele frequency distributions were compared between patients and healthy controls, keeping age, gender, and smoking status as covariates. A significant genotype and variant allele association was found of rs10490924 in ARMS2/HTRA1 with wet AMD, while the SNPs in CFH, CFB, and C3 were not associated with AMD in the current Pakistani cohort. The lack of association of CFH, CFB, and C3 may be attributed to limited sample size. This study demonstrates that genetic causative factors of AMD differ among populations and supports the need for genetic association studies among cohorts from various populations to increase our global understanding of the disease pathogenesis., (© 2019 John Wiley & Sons Ltd/University College London.)

Published
2019
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