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1. Direct inference and control of genetic population structure from RNA sequencing data

Author: Fachrul, Muhamad, Karkey, Abhilasha, Shakya, Mila, Judd, Louise M., Harshegyi, Taylor, Sim, Kar Seng, Tonks, Susan, Dongol, Sabina, Shrestha, Rajendra, Salim, Agus, Baker, Stephen, Pollard, Andrew J., Khor, Chiea Chuen, Dolecek, Christiane, Basnyat, Buddha, Dunstan, Sarah J., Holt, Kathryn E., and Inouye, Michael
Published: 2023
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2. A five-safes approach to a secure and scalable genomics data repository

Author: Shih, Chih Chuan, Chen, Jieqi, Lee, Ai Shan, Bertin, Nicolas, Hebrard, Maxime, Khor, Chiea Chuen, Li, Zheng, Juan Tan, Joanna Hui, Meah, Wee Yang, Peh, Su Qin, Mok, Shi Qi, Sim, Kar Seng, Liu, Jianjun, Wang, Ling, Wong, Eleanor, Li, Jingmei, Tin, Aung, Cheng, Ching-Yu, Heng, Chew-Kiat, Yuan, Jian-Min, Koh, Woon-Puay, Saw, Seang Mei, Friedlander, Yechiel, Sim, Xueling, Chai, Jin Fang, Chong, Yap Seng, Davila, Sonia, Goh, Liuh Ling, Lee, Eng Sing, Wong, Tien Yin, Karnani, Neerja, Leong, Khai Pang, Yeo, Khung Keong, Chambers, John C., Lim, Su Chi, Goh, Rick Siow Mong, Tan, Patrick, and Dorajoo, Rajkumar
Published: 2023
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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

5. 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

6. Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population

Author: Chang, Xuling, Gurung, Resham L., Wang, Ling, Jin, Aizhen, Li, Zheng, Wang, Renwei, Beckman, Kenneth B., Adams-Haduch, Jennifer, Meah, Wee Yang, Sim, Kar Seng, Lim, Weng Khong, Davila, Sonia, Tan, Patrick, Teo, Jing Xian, Yeo, Khung Keong, M., Yiamunaa, Liu, Sylvia, Lim, Su Chi, Liu, Jianjun, van Dam, Rob M., Friedlander, Yechiel, Koh, Woon-Puay, Yuan, Jian-Min, Khor, Chiea Chuen, Heng, Chew-Kiat, and Dorajoo, Rajkumar
Published: 2021
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7. A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

Author: Aung, Tin, Ozaki, Mineo, Mizoguchi, Takanori, Allingham, R Rand, Li, Zheng, Haripriya, Aravind, Nakano, Satoko, Uebe, Steffen, Harder, Jeffrey M, Chan, Anita SY, Lee, Mei Chin, Burdon, Kathryn P, Astakhov, Yury S, Abu-Amero, Khaled K, Zenteno, Juan C, Nilgün, Yildirim, Zarnowski, Tomasz, Pakravan, Mohammad, Safieh, Leen Abu, Jia, Liyun, Wang, Ya Xing, Williams, Susan, Paoli, Daniela, Schlottmann, Patricio G, Huang, Lulin, Sim, Kar Seng, Foo, Jia Nee, Nakano, Masakazu, Ikeda, Yoko, Kumar, Rajesh S, Ueno, Morio, Manabe, Shin-ichi, Hayashi, Ken, Kazama, Shigeyasu, Ideta, Ryuichi, Mori, Yosai, Miyata, Kazunori, Sugiyama, Kazuhisa, Higashide, Tomomi, Chihara, Etsuo, Inoue, Kenji, Ishiko, Satoshi, Yoshida, Akitoshi, Yanagi, Masahide, Kiuchi, Yoshiaki, Aihara, Makoto, Ohashi, Tsutomu, Sakurai, Toshiya, Sugimoto, Takako, Chuman, Hideki, Matsuda, Fumihiko, Yamashiro, Kenji, Gotoh, Norimoto, Miyake, Masahiro, Astakhov, Sergei Y, Osman, Essam A, Al-Obeidan, Saleh A, Owaidhah, Ohoud, Al-Jasim, Leyla, Shahwan, Sami Al, Fogarty, Rhys A, Leo, Paul, Yetkin, Yaz, Oğuz, Çilingir, Kanavi, Mozhgan Rezaei, Beni, Afsaneh Naderi, Yazdani, Shahin, Akopov, Evgeny L, Toh, Kai-Yee, Howell, Gareth R, Orr, Andrew C, Goh, Yufen, Meah, Wee Yang, Peh, Su Qin, Kosior-Jarecka, Ewa, Lukasik, Urszula, Krumbiegel, Mandy, Vithana, Eranga N, Wong, Tien Yin, Liu, Yutao, Koch, Allison E Ashley, Challa, Pratap, Rautenbach, Robyn M, Mackey, David A, Hewitt, Alex W, Mitchell, Paul, Wang, Jie Jin, Ziskind, Ari, Carmichael, Trevor, Ramakrishnan, Rangappa, Narendran, Kalpana, Venkatesh, Rangaraj, Vijayan, Saravanan, Zhao, Peiquan, Chen, Xueyi, Guadarrama-Vallejo, Dalia, Cheng, Ching Yu, Perera, Shamira A, Husain, Rahat, and Ho, Su-Ling
Subjects: Biological Sciences, Genetics, Rare Diseases, Human Genome, Prevention, 2.1 Biological and endogenous factors, Aetiology, Animals, Asian People, Calcium Channels, Case-Control Studies, Chromosome Mapping, Exfoliation Syndrome, Genetic Predisposition to Disease, Genome-Wide Association Study, Glaucoma, Open-Angle, HEK293 Cells, HeLa Cells, Humans, Japan, MCF-7 Cells, Mice, Mice, Inbred C57BL, Polymorphism, Single Nucleotide, Tumor Cells, Cultured, Blue Mountains Eye Study GWAS Team, Wellcome Trust Case Control Consortium 2, Hela Cells, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract: Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) of 1,484 cases and 1,188 controls from Japan and followed up the most significant findings in a further 6,901 cases and 20,727 controls from 17 countries across 6 continents. We discovered a genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (odds ratio (OR) = 1.16, P = 3.36 × 10(-11)). Although we also confirmed overwhelming association at the LOXL1 locus, the key SNP marker (LOXL1 rs4886776) demonstrated allelic reversal depending on the ancestry group (Japanese: OR(A allele) = 9.87, P = 2.13 × 10(-217); non-Japanese: OR(A allele) = 0.49, P = 2.35 × 10(-31)). Our findings represent the first genetic locus outside of LOXL1 surpassing genome-wide significance for XFS and provide insight into the biology and pathogenesis of the disease.
Published: 2015

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

Author: Springelkamp, Henriët, Mishra, Aniket, Hysi, Pirro G, Gharahkhani, Puya, Höhn, René, Khor, Chiea‐Chuen, Bailey, Jessica N Cooke, Luo, Xiaoyan, Ramdas, Wishal D, Vithana, Eranga, Koh, Victor, Yazar, Seyhan, Xu, Liang, Forward, Hannah, Kearns, Lisa S, Amin, Najaf, Iglesias, Adriana I, Sim, Kar‐Seng, Leeuwen, Elisabeth M, Demirkan, Ayse, der Lee, Sven, Loon, Seng‐Chee, Rivadeneira, Fernando, Nag, Abhishek, Sanfilippo, Paul G, Schillert, Arne, de Jong, Paulus TVM, Oostra, Ben A, Uitterlinden, André G, Hofman, Albert, Consortium, NEIGHBORHOOD, Zhou, Tiger, Burdon, Kathryn P, Spector, Timothy D, Lackner, Karl J, Saw, Seang‐Mei, Vingerling, Johannes R, Teo, Yik‐Ying, Pasquale, Louis R, Wolfs, Roger CW, Lemij, Hans G, Tai, E‐Shyong, Jonas, Jost B, Cheng, Ching‐Yu, Aung, Tin, Jansonius, Nomdo M, Klaver, Caroline CW, Craig, Jamie E, Young, Terri L, Haines, Jonathan L, MacGregor, Stuart, Mackey, David A, Pfeiffer, Norbert, Wong, Tien‐Yin, Wiggs, Janey L, Hewitt, Alex W, Duijn, Cornelia M, and Hammond, Christopher J
Subjects: Aging, Human Genome, Eye Disease and Disorders of Vision, Genetics, Neurosciences, Neurodegenerative, Eye, Asian People, Genome-Wide Association Study, Glaucoma, Humans, Optic Disk, Optic Nerve Diseases, Quantitative Trait Loci, White People, NEIGHBORHOOD Consortium, GWAS, cup area, disc area, glaucoma, Public Health and Health Services, Epidemiology
Abstract: Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, which is a clinically used measurement, and may shed light on new glaucoma mechanisms. We identified 10 new loci associated with disc area (CDC42BPA, F5, DIRC3, RARB, ABI3BP, DCAF4L2, ELP4, TMTC2, NR2F2, and HORMAD2) and another 10 new loci associated with cup area (DHRS3, TRIB2, EFEMP1, FLNB, FAM101, DDHD1, ASB7, KPNB1, BCAS3, and TRIOBP). The new genes participate in a number of pathways and future work is likely to identify more functions related to the pathogenesis of glaucoma.
Published: 2015

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

Author: Springelkamp, Henriët, Höhn, René, Mishra, Aniket, Hysi, Pirro G, Khor, Chiea-Chuen, Loomis, Stephanie J, Bailey, Jessica N Cooke, Gibson, Jane, Thorleifsson, Gudmar, Janssen, Sarah F, Luo, Xiaoyan, Ramdas, Wishal D, Vithana, Eranga, Nongpiur, Monisha E, Montgomery, Grant W, Xu, Liang, Mountain, Jenny E, Gharahkhani, Puya, Lu, Yi, Amin, Najaf, Karssen, Lennart C, Sim, Kar-Seng, van Leeuwen, Elisabeth M, Iglesias, Adriana I, Verhoeven, Virginie JM, Hauser, Michael A, Loon, Seng-Chee, Despriet, Dominiek DG, Nag, Abhishek, Venturini, Cristina, Sanfilippo, Paul G, Schillert, Arne, Kang, Jae H, Landers, John, Jonasson, Fridbert, Cree, Angela J, van Koolwijk, Leonieke ME, Rivadeneira, Fernando, Souzeau, Emmanuelle, Jonsson, Vesteinn, Menon, Geeta, Blue Mountains Eye Study—GWAS group, Weinreb, Robert N, de Jong, Paulus TVM, Oostra, Ben A, Uitterlinden, André G, Hofman, Albert, Ennis, Sarah, Thorsteinsdottir, Unnur, Burdon, Kathryn P, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), Spector, Timothy D, Mirshahi, Alireza, Saw, Seang-Mei, Vingerling, Johannes R, Teo, Yik-Ying, Haines, Jonathan L, Wolfs, Roger CW, Lemij, Hans G, Tai, E-Shyong, Jansonius, Nomdo M, Jonas, Jost B, Cheng, Ching-Yu, Aung, Tin, Viswanathan, Ananth C, Klaver, Caroline CW, Craig, Jamie E, Macgregor, Stuart, Mackey, David A, Lotery, Andrew J, Stefansson, Kari, Bergen, Arthur AB, Young, Terri L, Wiggs, Janey L, Pfeiffer, Norbert, Wong, Tien-Yin, Pasquale, Louis R, Hewitt, Alex W, van Duijn, Cornelia M, and Hammond, Christopher J
Subjects: Blue Mountains Eye Study—GWAS group, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2, Optic Nerve, Optic Disk, Humans, Glaucoma, Case-Control Studies, Gene Expression Profiling, Gene Frequency, Genotype, Phenotype, Polymorphism, Single Nucleotide, Asian Continental Ancestry Group, European Continental Ancestry Group, Genome-Wide Association Study, Polymorphism, Single Nucleotide, Human Genome, Genetics, Neurodegenerative, Eye Disease and Disorders of Vision, Neurosciences, 2.1 Biological and endogenous factors, Eye
Abstract: Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.
Published: 2014

10. Genome-Wide Analysis of Protein-Coding Variants in Leprosy

Author: Liu, Hong, Wang, Zhenzhen, Li, Yi, Yu, Gongqi, Fu, Xi’an, Wang, Chuan, Liu, Wenting, Yu, Yongxiang, Bao, Fangfang, Irwanto, Astrid, Liu, Jian, Chu, Tongsheng, Andiappan, Anand Kumar, Maurer-Stroh, Sebastian, Limviphuvadh, Vachiranee, Wang, Honglei, Mi, Zihao, Sun, Yonghu, Sun, Lele, Wang, Ling, Wang, Chaolong, You, Jiabao, Li, Jinghui, Foo, Jia Nee, Liany, Herty, Meah, Wee Yang, Niu, Guiye, Yue, Zhenhua, Zhao, Qing, Wang, Na, Yu, Meiwen, Yu, Wenjun, Cheng, Xiujun, Khor, Chiea Chuen, Sim, Kar Seng, Aung, Tin, Wang, Ningli, Wang, Deyun, Shi, Li, Ning, Yong, Zheng, Zhongyi, Yang, Rongde, Li, Jinlan, Yang, Jun, Yan, Liangbin, Shen, Jianping, Zhang, Guocheng, Chen, Shumin, Liu, Jianjun, and Zhang, Furen
Published: 2017
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11. Cross‐Ancestry Genome‐Wide Association Study Defines the Extended CYP2D6 Locus as the Principal Genetic Determinant of Endoxifen Plasma Concentrations

Author: Khor, Chiea Chuen, primary, Winter, Stefan, additional, Sutiman, Natalia, additional, Mürdter, Thomas E., additional, Chen, Sylvia, additional, Lim, Joanne Siok Liu, additional, Li, Zheng, additional, Li, Jingmei, additional, Sim, Kar Seng, additional, Ganchev, Boian, additional, Eccles, Diana, additional, Eccles, Bryony, additional, Tapper, William, additional, Zgheib, Nathalie K., additional, Tfayli, Arafat, additional, Ng, Raymond Chee Hui, additional, Yap, Yoon Sim, additional, Lim, Elaine, additional, Wong, Mabel, additional, Wong, Nan Soon, additional, Ang, Peter Cher Siang, additional, Dent, Rebecca, additional, Tremmel, Roman, additional, Klein, Kathrin, additional, Schaeffeler, Elke, additional, Zhou, Yitian, additional, Lauschke, Volker M., additional, Eichelbaum, Michel, additional, Schwab, Matthias, additional, Brauch, Hiltrud B., additional, Chowbay, Balram, additional, and Schroth, Werner, additional
Published: 2023
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12. Genetic risk of extranodal natural killer T-cell lymphoma: a genome-wide association study

Author: Li, Zheng, Xia, Yi, Feng, Li-Na, Chen, Jie-Rong, Li, Hong-Min, Cui, Jing, Cai, Qing-Qing, Sim, Kar Seng, Nairismägi, Maarja-Liisa, Laurensia, Yurike, Meah, Wee Yang, Liu, Wen-Sheng, Guo, Yun-Miao, Chen, Li-Zhen, Feng, Qi-Sheng, Pang, Chi Pui, Chen, Li Jia, Chew, Soo Hong, Ebstein, Richard P, Foo, Jia Nee, Liu, Jianjun, Ha, Jeslin, Khoo, Lay Poh, Chin, Suk Teng, Zeng, Yi-Xin, Aung, Tin, Chowbay, Balram, Diong, Colin Phipps, Zhang, Fen, Liu, Yan-Hui, Tang, Tiffany, Tao, Miriam, Quek, Richard, Mohamad, Farid, Tan, Soo Yong, Teh, Bin Tean, Ng, Siok Bian, Chng, Wee Joo, Ong, Choon Kiat, Okada, Yukinori, Raychaudhuri, Soumya, Lim, Soon Thye, Tan, Wen, Peng, Rou-Jun, Khor, Chiea Chuen, and Bei, Jin-Xin
Published: 2016
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13. RAPTOR: A Five-Safes approach to a secure, cloud native and serverless genomics data repository

Author: Shih, Chih Chuan, primary, Chen, Jieqi, additional, Lee, Ai Shan, additional, Bertin, Nicolas, additional, Hebrard, Maxime, additional, Khor, Chiea Chuen, additional, Li, Zheng, additional, Tan, Joanna Hui Juan, additional, Meah, Wee Yang, additional, Peh, Su Qin, additional, Mok, Shi Qi, additional, Sim, Kar Seng, additional, Liu, Jianjun, additional, Wang, Ling, additional, Wong, Eleanor, additional, Li, Jingmei, additional, Tin, Aung, additional, Cheng, Ching-Yu, additional, Heng, Chew-Kiat, additional, Yuan, Jian-Min, additional, Koh, Woon-Puay, additional, Saw, Seang Mei, additional, Friedlander, Yechiel, additional, Sim, Xueling, additional, Chai, Jin Fang, additional, Chong, Yap Seng, additional, Davila, Sonia, additional, Goh, Liuh Ling, additional, Lee, Eng Sing, additional, Wong, Tien Yin, additional, Karnani, Neerja, additional, Leong, Khai Pang, additional, Yeo, Khung Keong, additional, Chambers, John C, additional, Lim, Su Chi, additional, Goh, Rick Siow Mong, additional, Tan, Patrick, additional, and Dorajoo, Rajkumar, additional
Published: 2022
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14. Loci for human leukocyte telomere length in the Singaporean Chinese population and trans-ethnic genetic studies

Author: Dorajoo, Rajkumar, primary, Chang, Xuling, additional, Gurung, Resham Lal, additional, Li, Zheng, additional, Wang, Ling, additional, Wang, Renwei, additional, Beckman, Kenneth B., additional, Adams-Haduch, Jennifer, additional, M, Yiamunaa, additional, Liu, Sylvia, additional, Meah, Wee Yang, additional, Sim, Kar Seng, additional, Lim, Su Chi, additional, Friedlander, Yechiel, additional, Liu, Jianjun, additional, van Dam, Rob M., additional, Yuan, Jian-Min, additional, Koh, Woon-Puay, additional, Khor, Chiea Chuen, additional, and Heng, Chew-Kiat, additional
Published: 2019
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15. 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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16. Erratum: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome (Nature Genetics (2015) 47 (387-392))

Author: Aung, Tin, Ozaki, Mineo, Mizoguchi, Takanori, Allingham, R. Rand, Zheng, Li, Haripriya, Aravind, Nakano, Satoko, Uebe, Steffen, Harder, Jeffrey M., Chan, Anita S. Y., Lee, Mei Chin, Burdon, Kathryn P., Astakhov, Yury S., Abu Amero, Khaled K., Zenteno, Juan C., Nilgün, Yildirim, Zarnowski, Tomasz, Pakravan, Mohammad, Safieh, Leen Abu, Jia, Liyun, Wang, Ya Xing, Williams, Susan, Paoli, Daniela, Schlottmann, Patricio G., Huang, Lulin, Sim, Kar Seng, Foo, Jia Nee, Nakano, Masakazu, Ikeda, Yoko, Kumar, Rajesh S., Ueno, Morio, Manabe, Shin Ichi, Hayashi, Ken, Kazama, Shigeyasu, Ideta, Ryuichi, Mori, Yosai, Miyata, Kazunori, Sugiyama, Kazuhisa, Higashide, Tomomi, Chihara, Etsuo, Inoue, Kenji, Ishiko, Satoshi, Yoshida, Akitoshi, Yanagi, Masahide, Kiuchi, Yoshiaki, Aihara, Makoto, Ohashi, Tsutomu, Sakurai, Toshiya, Sugimoto, Takako, Chuman, Hideki, Matsuda, Fumihiko, Yamashiro, Kenji, Gotoh, Norimoto, Miyake, Masahiro, Astakhov, Sergei Y., Osman, Essam A., Al Obeidan, Saleh A., Owaidhah, Ohoud, Al Jasim, Leyla, Shahwan, Sami Al, Fogarty, Rhys A., Leo, Paul, Yetkin, Yaz, Oaiuz, Çilingir, Kanavi, Mozhgan Rezaei, Beni, Afsaneh Naderi, Yazdani, Shahin, Akopov, Evgeny L., Toh, Kai Yee, Howell, Gareth R., Orr, Andrew C., Goh, Yufen, Meah, Wee Yang, Peh, Su Qin, Kosior Jarecka, Ewa, Lukasik, Urszula, Krumbiegel, Mandy, Vithana, Eranga N., Wong, Tien Yin, Liu, Yutao, Koch, Allison E. Ashley, Challa, Pratap, Rautenbach, Robyn M., Mackey, David A., Hewitt, Alex W., Mitchell, Paul, Wang, Jie Jin, Ziskind, Ari, Carmichael, Trevor, Ramakrishnan, Rangappa, Narendran, Kalpana, Venkatesh, Rangaraj, Vijayan, Saravanan, Zhao, Peiquan, Chen, Xueyi, Guadarrama Vallejo, Dalia, Cheng, Ching Yu, Perera, Shamira A., Husain, Rahat, Su Ling, Ho, Welge Luessen, Ulrich Christoph, Mardin, Christian, Schloetzer Schrehardt, Ursula, Hillmer, Axel M., Herms, Stefan, Moebus, Susanne, Nöthen, Markus M., Weisschuh, Nicole, Shetty, Rohit, Ghosh, Arkasubhra, Teo, Yik Ying, Brown, Matthew A., Lischinsky, Ignacio, Crowston, Jonathan G., Coote, Michae, Zhao, Bowen, Sang, Jinghong, Zhang, Nihong, You, Qisheng, Vysochinskaya, Vera, Founti, Panayiota, Chatzikyriakidou, Anthoula, Lambropoulos, Alexandros, Anastasopoulos, Eleftherios, Coleman, Anne L., Wilson, M. Roy, Rhee, Douglas J., Kang, Jae Hee, May Bolchakova, Inna, Heegaard, Steffen, Mori, Kazuhiko, Alward, Wallace L. M., Jonas, Jost B., Liang, Xu, Liebmann, Jeffrey M., Chowbay, Balram, Schaeffeler, Elke, Schwab, Matthias, Lerner, Fabian, Wang, Ningli, Yang, Zhenglin, Frezzotti, Paolo, Kinoshita, Shigeru, Fingert, John H., Inatani, Masaru, Tashiro, Kei, Reis, André, Edward, Deepak P., Pasquale, Louis R., Kubota, Toshiaki, Wiggs, Janey L., Pasutto, Francesca, Topouzis, Fotis, Dubina, Michael, Craig, Jamie E., Yoshimura, Nagahisa, Sundaresan, Periasamy, John, Simon W. M., Ritch, Robert, Hauser, Michael A., and Khor, Chiea Chuen
Subjects: Genetics
Published: 2015

17. A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

Author: Aung, Tin, Ozaki, Mineo, Mizoguchi, Takanori, Allingham, R Rand, Li, Zheng, Haripriya, Aravind, Nakano, Satoko, Uebe, Steffen, Harder, Jeffrey M, Chan, Anita S Y, Lee, Mei Chin, Burdon, Kathryn P, Astakhov, Yury S, Abu-Amero, Khaled K, Zenteno, Juan C, Nilgün, Yildirim, Zarnowski, Tomasz, Pakravan, Mohammad, Safieh, Leen Abu, Jia, Liyun, Wang, Ya Xing, Williams, Susan, Paoli, Daniela, Schlottmann, Patricio G, Huang, Lulin, Sim, Kar Seng, Foo, Jia Nee, Nakano, Masakazu, Ikeda, Yoko, Kumar, Rajesh S, Ueno, Morio, Manabe, Shin-ichi, Hayashi, Ken, Kazama, Shigeyasu, Ideta, Ryuichi, Mori, Yosai, Miyata, Kazunori, Sugiyama, Kazuhisa, Higashide, Tomomi, Chihara, Etsuo, Inoue, Kenji, Ishiko, Satoshi, Yoshida, Akitoshi, Yanagi, Masahide, Kiuchi, Yoshiaki, Aihara, Makoto, Ohashi, Tsutomu, Sakurai, Toshiya, Sugimoto, Takako, Chuman, Hideki, Matsuda, Fumihiko, Yamashiro, Kenji, Gotoh, Norimoto, Miyake, Masahiro, Astakhov, Sergei Y, Osman, Essam A, Al-Obeidan, Saleh A, Owaidhah, Ohoud, Al-Jasim, Leyla, Al Shahwan, Sami, Fogarty, Rhys A, Leo, Paul, Yetkin, Yaz, Oguz, Çilingir, Kanavi, Mozhgan Rezaei, Beni, Afsaneh Nederi, Yazdani, Shahin, Akopov, Evgeny L, Toh, Kai-Yee, Howell, Gareth R, Orr, Andrew C, Goh, Yufen, Meah, Wee Yang, Peh, Su Qin, Kosior-Jarecka, Ewa, Lukasik, Urszula, Krumbiegel, Mandy, Vithana, Eranga N, Wong, Tien Yin, Liu, Yutao, Koch, Allison E Ashley, Challa, Pratap, Rautenbach, Robyn M, Mackey, David A, Hewitt, Alex W, Mitchell, Paul, Wang, Jie Jin, Ziskind, Ari, Carmichael, Trevor, Ramakrishnan, Rangappa, Narendran, Kalpana, Venkatesh, Rangaraj, Vijayan, Saravanan, Zhao, Peiquan, Chen, Xueyi, Guadarrama-Vallejo, Dalia, Cheng, Ching Yu, Perera, Shamira A, Husain, Rahat, Ho, Su-Ling, Welge-Luessen, Ulrich-Christoph, Mardin, Christian, Schloetzer-Schrehardt, Ursula, Hillmer, Axel M, Herms, Stefan, Moebus, Susanne, Nöthen, Markus M, Weisschuh, Nicole, Shetty, Rohit, Ghosh, Arkasubhra, Teo, Yik Ying, Brown, Matthew A, Lischinsky, Ignacio, Crowston, Jonathan G, Coote, Michael, Zhao, Bowen, Sang, Jinghong, Zhang, Nihong, You, Qisheng, Vysochinskaya, Vera, Founti, Panayiota, Chatzikyriakidou, Anthoula, Lambropoulos, Alexandros, Anastasopoulos, Eleftherios, Coleman, Anne L, Wilson, M Roy, Rhee, Douglas J, Kang, Jae Hee, May-Bolchakova, Inna, Heegaard, Steffen, Mori, Kazuhiko, Alward, Wallace L M, Jonas, Jost B, Xu, Liang, Liebmann, Jeffrey M, Chowbay, Balram, Schaeffeler, Elke, Schwab, Matthias, Lerner, Fabian, Wang, Ningli, Yang, Zhenglin, Frezzotti, Paolo, Kinoshita, Shigeru, Fingert, John H, Inatani, Masaru, Tashiro, Kei, Reis, André, Edward, Deepak P, Pasquale, Louis R, Kubota, Toshiaki, Wiggs, Janey L, Pasutto, Francesca, Topouzis, Fotis, Dubina, Michael, Craig, Jamie E, Yoshimura, Nagahisa, Sundaresan, Periasamy, John, Simon W M, Ritch, Robert, Hauser, Michael A, Khor, Chiea-Chuen, Rochtchina, Elena, Viswanathan, Ananth C, Wong, Tien Y, Xie, Jing, Sim, Xueling, Inouye, Michael, Holliday, Elizabeth G, Attia, John, Scott, Rodney J, Baird, Paul N, Donnelly, Peter, Barroso, Ines, Blackwell, Jenefer M, Bramon, Elvira, Casas, Juan P, Corvin, Aiden, Deloukas, Panos, Duncanson, Audrey, Jankowski, Janusz, Markus, Hugh S, Mathew, Christopher G, Palmer, Colin N A, Plomin, Robert, Rautanen, Anna, Sawcer, Stephen J, Trembath, Richard C, Wood, Nicholas W, Spencer, Chris C A, Band, Gavin, Bellenguez, Céline, Freeman, Colin, Hellenthal, Garrett, Giannoulatou, Eleni, Pirinen, Matti, Pearson, Richard, Strange, Amy, Su, Zhan, Vukcevic, Damjan, Langford, Cordelia, Hunt, Sarah E, Edkins, Sarah, Gwilliam, Rhian, Blackburn, Hannah, Bumpstead, Suzannah J, Dronov, Serge, Gillman, Matthew, Gray, Emma, Hammond, Naomi, Jayakumar, Alagurevathi, McCann, Owen T, Liddle, Jennifer, Potter, Simon C, Ravindrarajah, Radhi, Ricketts, Michelle, Waller, Matthew, Weston, Paul, Widaa, Sara, and Whittaker, Pamela
Subjects: Asian Continental Ancestry Group, Pseudoexfoliation syndrome, Medizin, Locus (genetics), Genome-wide association study, Biology, Inbred C57BL, Exfoliation Syndrome, Polymorphism, Single Nucleotide, Article, Mice, Animals, Calcium Channels, Case-Control Studies, Chromosome Mapping, Genetic Predisposition to Disease, Genome-Wide Association Study, Glaucoma, Open-Angle, HEK293 Cells, HeLa Cells, Humans, Japan, MCF-7 Cells, Mice, Inbred C57BL, Tumor Cells, Cultured, Genetics, Asian People, medicine, SNP, Allele, Polymorphism, Cultured, Case-control study, Glaucoma, Odds ratio, Single Nucleotide, medicine.disease, eye diseases, Tumor Cells, Open-Angle, Etiology
Abstract: Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) of 1,484 cases and 1,188 controls from Japan and followed up the most significant findings in a further 6,901 cases and 20,727 controls from 17 countries across 6 continents. We discovered a genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (odds ratio (OR) = 1.16, P = 3.36 × 10(-11)). Although we also confirmed overwhelming association at the LOXL1 locus, the key SNP marker (LOXL1 rs4886776) demonstrated allelic reversal depending on the ancestry group (Japanese: OR(A allele) = 9.87, P = 2.13 × 10(-217); non-Japanese: OR(A allele) = 0.49, P = 2.35 × 10(-31)). Our findings represent the first genetic locus outside of LOXL1 surpassing genome-wide significance for XFS and provide insight into the biology and pathogenesis of the disease.
Published: 2014

18. A missense variant in FGD6 confers increased risk of polypoidal choroidal vasculopathy

Author: Huang, Lulin, primary, Zhang, Houbin, additional, Cheng, Ching-Yu, additional, Wen, Feng, additional, Tam, Pancy O S, additional, Zhao, Peiquan, additional, Chen, Haoyu, additional, Li, Zheng, additional, Chen, Lijia, additional, Tai, Zhengfu, additional, Yamashiro, Kenji, additional, Deng, Shaoping, additional, Zhu, Xianjun, additional, Chen, Weiqi, additional, Cai, Li, additional, Lu, Fang, additional, Li, Yuanfeng, additional, Cheung, Chui-Ming G, additional, Shi, Yi, additional, Miyake, Masahiro, additional, Lin, Yin, additional, Gong, Bo, additional, Liu, Xiaoqi, additional, Sim, Kar-Seng, additional, Yang, Jiyun, additional, Mori, Keisuke, additional, Zhang, Xiongzhe, additional, Cackett, Peter D, additional, Tsujikawa, Motokazu, additional, Nishida, Kohji, additional, Hao, Fang, additional, Ma, Shi, additional, Lin, He, additional, Cheng, Jing, additional, Fei, Ping, additional, Lai, Timothy Y Y, additional, Tang, Sibo, additional, Laude, Augustinus, additional, Inoue, Satoshi, additional, Yeo, Ian Y, additional, Sakurada, Yoichi, additional, Zhou, Yu, additional, Iijima, Hiroyuki, additional, Honda, Shigeru, additional, Lei, Chuntao, additional, Zhang, Lin, additional, Zheng, Hong, additional, Jiang, Dan, additional, Zhu, Xiong, additional, Wong, Tien-Ying, additional, Khor, Chiea-Chuen, additional, Pang, Chi-Pui, additional, Yoshimura, Nagahisa, additional, and Yang, Zhenglin, additional
Published: 2016
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19. Correction: Corrigendum: New loci and coding variants confer risk for age-related macular degeneration in East Asians

Author: Cheng, Ching-Yu, primary, Yamashiro, Kenji, additional, Jia Chen, Li, additional, Ahn, Jeeyun, additional, Huang, Lulin, additional, Huang, Lvzhen, additional, Cheung, Chui Ming G., additional, Miyake, Masahiro, additional, Cackett, Peter D., additional, Yeo, Ian Y., additional, Laude, Augustinus, additional, Mathur, Ranjana, additional, Pang, Junxiong, additional, Sim, Kar Seng, additional, Koh, Adrian H., additional, Chen, Peng, additional, Lee, Shu Yen, additional, Wong, Doric, additional, Chan, Choi Mun, additional, Loh, Boon Kwang, additional, Sun, Yaoyao, additional, Davila, Sonia, additional, Nakata, Isao, additional, Nakanishi, Hideo, additional, Akagi-Kurashige, Yumiko, additional, Gotoh, Norimoto, additional, Tsujikawa, Akitaka, additional, Matsuda, Fumihiko, additional, Mori, Keisuke, additional, Yoneya, Shin, additional, Sakurada, Yoichi, additional, Iijima, Hiroyuki, additional, Iida, Tomohiro, additional, Honda, Shigeru, additional, Lai, Timothy Yuk Yau, additional, Tam, Pancy Oi Sin, additional, Chen, Haoyu, additional, Tang, Shibo, additional, Ding, Xiaoyan, additional, Wen, Feng, additional, Lu, Fang, additional, Zhang, Xiongze, additional, Shi, Yi, additional, Zhao, Peiquan, additional, Zhao, Bowen, additional, Sang, Jinghong, additional, Gong, Bo, additional, Dorajoo, Rajkumar, additional, Yuan, Jian-Min, additional, Koh, Woon-Puay, additional, van Dam, Rob M., additional, Friedlander, Yechiel, additional, Lin, Yin, additional, Hibberd, Martin L., additional, Foo, Jia Nee, additional, Wang, Ningli, additional, Wong, Chang Hua, additional, Tan, Gavin S., additional, Park, Sang Jun, additional, Bhargava, Mayuri, additional, Gopal, Lingam, additional, Naing, Thet, additional, Liao, Jiemin, additional, Ong, Peng Guan, additional, Mitchell, Paul, additional, Zhou, Peng, additional, Xie, Xuefeng, additional, Liang, Jinlong, additional, Mei, Junpu, additional, Jin, Xin, additional, Saw, Seang-Mei, additional, Ozaki, Mineo, additional, Mizoguchi, Takinori, additional, Kurimoto, Yasuo, additional, Woo, Se Joon, additional, Chung, Hum, additional, Yu, Hyeong-Gon, additional, Shin, Joo Young, additional, Park, Dong Ho, additional, Kim, In Taek, additional, Chang, Woohyok, additional, Sagong, Min, additional, Lee, Sang-Joon, additional, Kim, Hyun Woong, additional, Lee, Ji Eun, additional, Li, Yi, additional, Liu, Jianjun, additional, Teo, Yik Ying, additional, Heng, Chew Kiat, additional, Lim, Tock Han, additional, Yang, Suk-Kyun, additional, Song, Kyuyoung, additional, Vithana, Eranga N., additional, Aung, Tin, additional, Bei, Jin Xin, additional, Zeng, Yi Xin, additional, Tai, E. Shyong, additional, Li, Xiao Xin, additional, Yang, Zhenglin, additional, Park, Kyu-Hyung, additional, Pang, Chi Pui, additional, Yoshimura, Nagahisa, additional, Wong, Tien Yin, additional, and Khor, Chiea Chuen, additional
Published: 2015
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20. New loci and coding variants confer risk for age-related macular degeneration in East Asians

Author: Cheng, Ching-Yu, primary, Yamashiro, Kenji, additional, Jia Chen, Li, additional, Ahn, Jeeyun, additional, Huang, Lulin, additional, Huang, Lvzhen, additional, Cheung, Chui Ming G., additional, Miyake, Masahiro, additional, Cackett, Peter D., additional, Yeo, Ian Y., additional, Laude, Augustinus, additional, Mathur, Ranjana, additional, Pang, Junxiong, additional, Sim, Kar Seng, additional, Koh, Adrian H., additional, Chen, Peng, additional, Lee, Shu Yen, additional, Wong, Doric, additional, Chan, Choi Mun, additional, Loh, Boon Kwang, additional, Sun, Yaoyao, additional, Davila, Sonia, additional, Nakata, Isao, additional, Nakanishi, Hideo, additional, Akagi-Kurashige, Yumiko, additional, Gotoh, Norimoto, additional, Tsujikawa, Akitaka, additional, Matsuda, Fumihiko, additional, Mori, Keisuke, additional, Yoneya, Shin, additional, Sakurada, Yoichi, additional, Iijima, Hiroyuki, additional, Iida, Tomohiro, additional, Honda, Shigeru, additional, Lai, Timothy Yuk Yau, additional, Tam, Pancy Oi Sin, additional, Chen, Haoyu, additional, Tang, Shibo, additional, Ding, Xiaoyan, additional, Wen, Feng, additional, Lu, Fang, additional, Zhang, Xiongze, additional, Shi, Yi, additional, Zhao, Peiquan, additional, Zhao, Bowen, additional, Sang, Jinghong, additional, Gong, Bo, additional, Dorajoo, Rajkumar, additional, Yuan, Jian-Min, additional, Koh, Woon-Puay, additional, van Dam, Rob M., additional, Friedlander, Yechiel, additional, Lin, Ying, additional, Hibberd, Martin L., additional, Foo, Jia Nee, additional, Wang, Ningli, additional, Wong, Chang Hua, additional, Tan, Gavin S., additional, Park, Sang Jun, additional, Bhargava, Mayuri, additional, Gopal, Lingam, additional, Naing, Thet, additional, Liao, Jiemin, additional, Guan Ong, Peng, additional, Mitchell, Paul, additional, Zhou, Peng, additional, Xie, Xuefeng, additional, Liang, Jinlong, additional, Mei, Junpu, additional, Jin, Xin, additional, Saw, Seang-Mei, additional, Ozaki, Mineo, additional, Mizoguchi, Takanori, additional, Kurimoto, Yasuo, additional, Woo, Se Joon, additional, Chung, Hum, additional, Yu, Hyeong-Gon, additional, Shin, Joo Young, additional, Park, Dong Ho, additional, Kim, In Taek, additional, Chang, Woohyok, additional, Sagong, Min, additional, Lee, Sang-Joon, additional, Kim, Hyun Woong, additional, Lee, Ji Eun, additional, Li, Yi, additional, Liu, Jianjun, additional, Teo, Yik Ying, additional, Heng, Chew Kiat, additional, Lim, Tock Han, additional, Yang, Suk-Kyun, additional, Song, Kyuyoung, additional, Vithana, Eranga N., additional, Aung, Tin, additional, Bei, Jin Xin, additional, Zeng, Yi Xin, additional, Tai, E. Shyong, additional, Li, Xiao Xin, additional, Yang, Zhenglin, additional, Park, Kyu-Hyung, additional, Pang, Chi Pui, additional, Yoshimura, Nagahisa, additional, Yin Wong, Tien, additional, and Khor, Chiea Chuen, additional
Published: 2015
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21. Variation at HLA-DRB1 is associated with resistance to enteric fever

Author: Dunstan, Sarah J, primary, Hue, Nguyen Thi, additional, Han, Buhm, additional, Li, Zheng, additional, Tram, Trinh Thi Bich, additional, Sim, Kar Seng, additional, Parry, Christopher M, additional, Chinh, Nguyen Tran, additional, Vinh, Ha, additional, Lan, Nguyen Phu Huong, additional, Thieu, Nga Tran Vu, additional, Vinh, Phat Voong, additional, Koirala, Samir, additional, Dongol, Sabina, additional, Arjyal, Amit, additional, Karkey, Abhilasha, additional, Shilpakar, Olita, additional, Dolecek, Christiane, additional, Foo, Jia Nee, additional, Phuong, Le Thi, additional, Lanh, Mai Ngoc, additional, Do, Tan, additional, Aung, Tin, additional, Hon, Do Nu, additional, Teo, Yik Ying, additional, Hibberd, Martin L, additional, Anders, Katherine L, additional, Okada, Yukinori, additional, Raychaudhuri, Soumya, additional, Simmons, Cameron P, additional, Baker, Stephen, additional, de Bakker, Paul I W, additional, Basnyat, Buddha, additional, Hien, Tran Tinh, additional, Farrar, Jeremy J, additional, and Khor, Chiea Chuen, additional
Published: 2014
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22. Deep Whole-Genome Sequencing of 100 Southeast Asian Malays

Author: Wong, Lai-Ping, primary, Ong, Rick Twee-Hee, additional, Poh, Wan-Ting, additional, Liu, Xuanyao, additional, Chen, Peng, additional, Li, Ruoying, additional, Lam, Kevin Koi-Yau, additional, Pillai, Nisha Esakimuthu, additional, Sim, Kar-Seng, additional, Xu, Haiyan, additional, Sim, Ngak-Leng, additional, Teo, Shu-Mei, additional, Foo, Jia-Nee, additional, Tan, Linda Wei-Lin, additional, Lim, Yenly, additional, Koo, Seok-Hwee, additional, Gan, Linda Seo-Hwee, additional, Cheng, Ching-Yu, additional, Wee, Sharon, additional, Yap, Eric Peng-Huat, additional, Ng, Pauline Crystal, additional, Lim, Wei-Yen, additional, Soong, Richie, additional, Wenk, Markus Rene, additional, Aung, Tin, additional, Wong, Tien-Yin, additional, Khor, Chiea-Chuen, additional, Little, Peter, additional, Chia, Kee-Seng, additional, and Teo, Yik-Ying, additional
Published: 2013
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23. Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma

Author: Vithana, Eranga N, primary, Khor, Chiea-Chuen, additional, Qiao, Chunyan, additional, Nongpiur, Monisha E, additional, George, Ronnie, additional, Chen, Li-Jia, additional, Do, Tan, additional, Abu-Amero, Khaled, additional, Huang, Chor Kai, additional, Low, Sancy, additional, Tajudin, Liza-Sharmini A, additional, Perera, Shamira A, additional, Cheng, Ching-Yu, additional, Xu, Liang, additional, Jia, Hongyan, additional, Ho, Ching-Lin, additional, Sim, Kar Seng, additional, Wu, Ren-Yi, additional, Tham, Clement C Y, additional, Chew, Paul T K, additional, Su, Daniel H, additional, Oen, Francis T, additional, Sarangapani, Sripriya, additional, Soumittra, Nagaswamy, additional, Osman, Essam A, additional, Wong, Hon-Tym, additional, Tang, Guangxian, additional, Fan, Sujie, additional, Meng, Hailin, additional, Huong, Dao T L, additional, Wang, Hua, additional, Feng, Bo, additional, Baskaran, Mani, additional, Shantha, Balekudaru, additional, Ramprasad, Vedam L, additional, Kumaramanickavel, Govindasamy, additional, Iyengar, Sudha K, additional, How, Alicia C, additional, Lee, Kelvin Y, additional, Sivakumaran, Theru A, additional, Yong, Victor H K, additional, Ting, Serena M L, additional, Li, Yang, additional, Wang, Ya-Xing, additional, Tay, Wan-Ting, additional, Sim, Xueling, additional, Lavanya, Raghavan, additional, Cornes, Belinda K, additional, Zheng, Ying-Feng, additional, Wong, Tina T, additional, Loon, Seng-Chee, additional, Yong, Vernon K Y, additional, Waseem, Naushin, additional, Yaakub, Azhany, additional, Chia, Kee-Seng, additional, Allingham, R Rand, additional, Hauser, Michael A, additional, Lam, Dennis S C, additional, Hibberd, Martin L, additional, Bhattacharya, Shomi S, additional, Zhang, Mingzhi, additional, Teo, Yik Ying, additional, Tan, Donald T, additional, Jonas, Jost B, additional, Tai, E-Shyong, additional, Saw, Seang-Mei, additional, Hon, Do Nhu, additional, Al-Obeidan, Saleh A, additional, Liu, Jianjun, additional, Chau, Tran Nguyen Bich, additional, Simmons, Cameron P, additional, Bei, Jin-Xin, additional, Zeng, Yi-Xin, additional, Foster, Paul J, additional, Vijaya, Lingam, additional, Wong, Tien-Yin, additional, Pang, Chi-Pui, additional, Wang, Ningli, additional, and Aung, Tin, additional
Published: 2012
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24. A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy

Author: Yu, Xue-Qing, primary, Li, Ming, additional, Zhang, Hong, additional, Low, Hui-Qi, additional, Wei, Xin, additional, Wang, Jin-Quan, additional, Sun, Liang-Dan, additional, Sim, Kar-Seng, additional, Li, Yi, additional, Foo, Jia-Nee, additional, Wang, Wei, additional, Li, Zhi-Jian, additional, Yin, Xian-Yong, additional, Tang, Xue-Qing, additional, Fan, Li, additional, Chen, Jian, additional, Li, Rong-Shan, additional, Wan, Jian-Xin, additional, Liu, Zhang-Suo, additional, Lou, Tan-Qi, additional, Zhu, Li, additional, Huang, Xiao-Jun, additional, Zhang, Xue-Jun, additional, Liu, Zhi-Hong, additional, and Liu, Jian-Jun, additional
Published: 2011
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25. Natural positive selection and north–south genetic diversity in East Asia

Author: Suo, Chen, primary, Xu, Haiyan, additional, Khor, Chiea-Chuen, additional, Ong, Rick TH, additional, Sim, Xueling, additional, Chen, Jieming, additional, Tay, Wan-Ting, additional, Sim, Kar-Seng, additional, Zeng, Yi-Xin, additional, Zhang, Xuejun, additional, Liu, Jianjun, additional, Tai, E-Shyong, additional, Wong, Tien-Yin, additional, Chia, Kee-Seng, additional, and Teo, Yik-Ying, additional
Published: 2011
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26. A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.

Author: Yu, Xue-Qing, Li, Ming, Zhang, Hong, Low, Hui-Qi, Wei, Xin, Wang, Jin-Quan, Sun, Liang-Dan, Sim, Kar-Seng, Li, Yi, Foo, Jia-Nee, Wang, Wei, Li, Zhi-Jian, Yin, Xian-Yong, Tang, Xue-Qing, Fan, Li, Chen, Jian, Li, Rong-Shan, Wan, Jian-Xin, Liu, Zhang-Suo, and Lou, Tan-Qi
Subjects: DISEASE susceptibility, IGA glomerulonephritis, LOCUS (Genetics), CHINESE people, TUMOR necrosis factors, MAJOR histocompatibility complex, DISEASES
Abstract: We performed a two-stage genome-wide association study of IgA nephropathy (IgAN) in Han Chinese, with 1,434 affected individuals (cases) and 4,270 controls in the discovery phase and follow-up of the top 61 SNPs in an additional 2,703 cases and 3,464 controls. We identified associations at 17p13 (rs3803800, P = 9.40 × 10?11, OR = 1.21; rs4227, P = 4.31 × 10?10, OR = 1.23) and 8p23 (rs2738048, P = 3.18 × 10?14, OR = 0.79) that implicated the genes encoding tumor necrosis factor (TNFSF13) and ?-defensin (DEFA) as susceptibility genes. In addition, we found multiple associations in the major histocompatibility complex (MHC) region (rs660895, P = 4.13 × 10?20, OR = 1.34; rs1794275, P = 3.43 × 10?13, OR = 1.30; rs2523946, P = 1.74 × 10?11, OR = 1.21) and confirmed a previously reported association at 22q12 (rs12537, P = 1.17 × 10?11, OR = 0.78). We also found that rs660895 was associated with clinical subtypes of IgAN (P = 0.003), proteinuria (P = 0.025) and IgA levels (P = 0.047). Our findings show that IgAN is associated with variants near genes involved in innate immunity and inflammation. [ABSTRACT FROM AUTHOR]
Published: 2012
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27. Natural positive selection and north-south genetic diversity in East Asia.

Author: Suo, Chen, Xu, Haiyan, Khor, Chiea-Chuen, Ong, Rick TH, Sim, Xueling, Chen, Jieming, Tay, Wan-Ting, Sim, Kar-Seng, Zeng, Yi-Xin, Zhang, Xuejun, Liu, Jianjun, Tai, E-Shyong, Wong, Tien-Yin, Chia, Kee-Seng, and Teo, Yik-Ying
Subjects: HUMAN chromosomes, GENETICS, GENOMES, LINKAGE disequilibrium, HUMAN gene mapping
Abstract: Recent reports have identified a north-south cline in genetic variation in East and South-East Asia, but these studies have not formally explored the basis of these clinical differences. Understanding the origins of these variations may provide valuable insights in tracking down the functional variants in genomic regions identified by genetic association studies. Here we investigate the genetic basis of these differences with genome-wide data from the HapMap, the Human Genome Diversity Project and the Singapore Genome Variation Project. We implemented four bioinformatic measures to discover genomic regions that are considerably differentiated either between two Han Chinese populations in the north and south of China, or across 22 populations in East and South-East Asia. These measures prioritized genomic stretches with: (i) regional differences in the allelic spectrum for SNPs common to the two Han Chinese populations; (ii) differential evidence of positive selection between the two populations as quantified by integrated haplotype score (iHS) and cross-population extended haplotype homozygosity (XP-EHH); (iii) significant correlation between allele frequencies and geographical latitudes of the 22 populations. We also explored the extent of linkage disequilibrium variations in these regions, which is important in combining genetic association studies from North and South Chinese. Two of the regions that emerged are found in HLA class I and II, suggesting that the HLA imputation panel from the HapMap may not be directly applicable to every Chinese sample. This has important implications to autoimmune studies that plan to impute the classical HLA alleles to fine map the SNP association signals. [ABSTRACT FROM AUTHOR]
Published: 2012
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28. Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.

Author: Khor, Chiea Chuen, Davila, Sonia, Breunis, Willemijn B, Lee, Yi-Ching, Shimizu, Chisato, Wright, Victoria J, Yeung, Rae S M, Tan, Dennis E K, Sim, Kar Seng, Wang, Jie Jin, Wong, Tien Yin, Pang, Junxiong, Mitchell, Paul, Cimaz, Rolando, Dahdah, Nagib, Cheung, Yiu-Fai, Huang, Guo-Ying, Yang, Wanling, Park, In-Sook, and Lee, Jong-Keuk
Subjects: MUCOCUTANEOUS lymph node syndrome, VASCULITIS, DISEASE susceptibility, IMMUNOGLOBULIN G, GENETIC polymorphisms
Abstract: Kawasaki disease is a systemic vasculitis of unknown etiology, with clinical observations suggesting a substantial genetic contribution to disease susceptibility. We conducted a genome-wide association study and replication analysis in 2,173 individuals with Kawasaki disease and 9,383 controls from five independent sample collections. Two loci exceeded the formal threshold for genome-wide significance. The first locus is a functional polymorphism in the IgG receptor gene FCGR2A (encoding an H131R substitution) (rs1801274; P = 7.35 × 10?11, odds ratio (OR) = 1.32), with the A allele (coding for histadine) conferring elevated disease risk. The second locus is at 19q13, (P = 2.51 × 10?9, OR = 1.42 for the rs2233152 SNP near MIA and RAB4B; P = 1.68 × 10?12, OR = 1.52 for rs28493229 in ITPKC), which confirms previous findings. The involvement of the FCGR2A locus may have implications for understanding immune activation in Kawasaki disease pathogenesis and the mechanism of response to intravenous immunoglobulin, the only proven therapy for this disease. [ABSTRACT FROM AUTHOR]
Published: 2011
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29. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Author: Springelkamp, Henriët., Höhn, René, Mishra, Aniket, Hysi, Pirro G., Khor, Chiea-Chuen, Loomis, Stephanie J., Bailey, Jessica N. Cooke, Gibson, Jane, Thorleifsson, Gudmar, Janssen, Sarah F., Luo, Xiaoyan, Ramdas, Wishal D., Vithana, Eranga, Nongpiur, Monisha E., Montgomery, Grant W., Xu, Liang, Mountain, Jenny E., Gharahkhani, Puya, Lu, Yi, Amin, Najaf, Karssen, Lennart C., Sim, Kar-Seng, van Leeuwen, Elisabeth M., Iglesias, Adriana I., Verhoeven, Virginie J. M., Hauser, Michael A., Loon, Seng-Chee, Despriet, Dominiek D. G., Nag, Abhishek, Venturini, Cristina, Sanfilippo, Paul G., Schillert, Arne, Kang, Jae H., Landers, John, Jonasson, Fridbert, Cree, Angela J., van Koolwijk, Leonieke M. E., Rivadeneira, Fernando, Souzeau, Emmanuelle, Jonsson, Vesteinn, Menon, Geeta, Mitchell, Paul, Wang, Jie Jin, Rochtchina, Elena, Attia, John, Scott, Rodney, Holliday, Elizabeth G., Wong, Tien-Yin, Baird, Paul N., Xie, Jing, Inouye, Michael, Viswanathan, Ananth, Sim, Xueling, Weinreb, Robert N., de Jong, Paulus T. V. M., Oostra, Ben A., Uitterlinden, André G., Hofman, Albert, Ennis, Sarah, Thorsteinsdottir, Unnur, Burdon, Kathryn P., Allingham, R. Rand, Brilliant, Murray H., Budenz, Donald L., Cooke Bailey, Jessica N., Christen, William G., Fingert, John, Friedman, David S., Gaasterland, Douglas, Gaasterland, Terry, Haines, Jonathan L., Kang, Jae Hee, Kraft, Peter, Lee, Richard K., Lichter, Paul R., Liu, Yutao, Moroi, Sayoko E., Pasquale, Louis R., Pericak-Vance, Margaret A., Realini, Anthony, Richards, Julia E., Schuman, Joel S., Scott, William K., Singh, Kuldev, Sit, Arthur J., Vollrath, Douglas, Wiggs, Janey L., Wollstein, Gadi, Zack, Donald J., Zhang, Kang, Donnelly (Chair), Peter, Barroso (Deputy Chair), Ines, Blackwell, Jenefer M., Bramon, Elvira, Brown, Matthew A., Casas, Juan P., Corvin, Aiden, Deloukas, Panos, Duncanson, Audrey, Jankowski, Janusz, Markus, Hugh S., Mathew, Christopher G., Palmer, Colin N. A., Plomin, Robert, Rautanen, Anna, Sawcer, Stephen J., Trembath, Richard C., Viswanathan, Ananth C., Wood, Nicholas W., Spencer, Chris C. A., Band, Gavin, Bellenguez, Céline, Freeman, Colin, Hellenthal, Garrett, Giannoulatou, Eleni, Pirinen, Matti, Pearson, Richard, Strange, Amy, Su, Zhan, Vukcevic, Damjan, Donnelly, Peter, Langford, Cordelia, Hunt, Sarah E., Edkins, Sarah, Gwilliam, Rhian, Blackburn, Hannah, Bumpstead, Suzannah J., Dronov, Serge, Gillman, Matthew, Gray, Emma, Hammond, Naomi, Jayakumar, Alagurevathi, McCann, Owen T., Liddle, Jennifer, Potter, Simon C., Ravindrarajah, Radhi, Ricketts, Michelle, Waller, Matthew, Weston, Paul, Widaa, Sara, Whittaker, Pamela, Barroso, Ines, Mathew (Chair), Christopher G., Spector, Timothy D., Mirshahi, Alireza, Saw, Seang-Mei, Vingerling, Johannes R., Teo, Yik-Ying, Wolfs, Roger C. W., Lemij, Hans G., Tai, E-Shyong, Jansonius, Nomdo M., Jonas, Jost B., Cheng, Ching-Yu, Aung, Tin, Klaver, Caroline C. W., Craig, Jamie E., Macgregor, Stuart, Mackey, David A., Lotery, Andrew J., Stefansson, Kari, Bergen, Arthur A. B., Young, Terri L., Pfeiffer, Norbert, Hewitt, Alex W., van Duijn, Cornelia M., and Hammond, Christopher J.
Abstract: Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.
Published: 2014
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30. Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies.

Author: Martinón-Torres, Federico, Png, Eileen, Khor, Chiea Chuen, Davila, Sonia, Wright, Victoria J., Sim, Kar Seng, Vega, Ana, Fachal, Laura, Inwald, David, Nadel, Simon, Carrol, Enitan D., Martinón-Torres, Nazareth, Alonso, Sonia Marcos, Carracedo, Angel, Morteruel, Elvira, López-Bayón, Julio, Torre, Andrés Concha, Monge, Cristina Calvo, de Aguilar, Pilar Azcón González, and Torné, Elisabeth Esteban
Abstract: Meningococcal disease (MD) remains an important infectious cause of life threatening infection in both industrialized and resource poor countries. Genetic factors influence both occurrence and severity of presentation, but the genes responsible are largely unknown. We performed a genome-wide association study (GWAS) examining 5,440,063 SNPs in 422 Spanish MD patients and 910 controls. We then performed a meta-analysis of the Spanish GWAS with GWAS data from the United Kingdom (combined cohorts: 897 cases and 5,613 controls; 4,898,259 SNPs). The meta-analysis identified strong evidence of association (P-value ≤ 5 × 10−8) in 20 variants located at the CFH gene. SNP rs193053835 showed the most significant protective effect (Odds Ratio (OR) = 0.62, 95% confidence interval (C.I.) = 0.52-0.73; P-value = 9.62 × 10−9). Five other variants had been previously reported to be associated with susceptibility to MD, including the missense SNP rs1065489 (OR = 0.64, 95% C.I.) = 0.55-0.76, P-value = 3.25 × 10−8). Theoretical predictions point to a functional effect of rs1065489, which may be directly responsible for protection against MD. Our study confirms the association of CFH with susceptibility to MD and strengthens the importance of this link in understanding pathogenesis of the disease. [ABSTRACT FROM AUTHOR]
Published: 2016
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31. Corrigendum: New loci and coding variants confer risk for age-related macular degeneration in East Asians.

Author: Cheng, Ching-Yu, Yamashiro, Kenji, Jia Chen, Li, Ahn, Jeeyun, Huang, Lulin, Huang, Lvzhen, Cheung, Chui Ming G., Miyake, Masahiro, Cackett, Peter D., Yeo, Ian Y., Laude, Augustinus, Mathur, Ranjana, Pang, Junxiong, Sim, Kar Seng, Koh, Adrian H., Chen, Peng, Lee, Shu Yen, Wong, Doric, Chan, Choi Mun, and Loh, Boon Kwang
Published: 2015
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32. 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

33. Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye.

Author: Li Z, Wang Z, Lee MC, Zenkel M, Peh E, Ozaki M, Topouzis F, Nakano S, Chan A, Chen S, Williams SEI, Orr A, Nakano M, Kobakhidze N, Zarnowski T, Popa-Cherecheanu A, Mizoguchi T, Manabe SI, Hayashi K, Kazama S, Inoue K, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Ideta R, Ishiko S, Yoshida A, Tokumo K, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Mori K, Ikeda Y, Ueno M, Gaston D, Rafuse P, Shuba L, Saunders J, Nicolela M, Chichua G, Tabagari S, Founti P, Sim KS, Meah WY, Soo HM, Chen XY, Chatzikyriakidou A, Keskini C, Pappas T, Anastasopoulos E, Lambropoulos A, Panagiotou ES, Mikropoulos DG, Kosior-Jarecka E, Cheong A, Li Y, Lukasik U, Nongpiur ME, Husain R, Perera SA, Álvarez L, García M, González-Iglesias H, Fernández-Vega Cueto A, Fernández-Vega Cueto L, Martinón-Torres F, Salas A, Oguz Ç, Tamcelik N, Atalay E, Batu B, Irkec M, Aktas D, Kasim B, Astakhov YS, Astakhov SY, Akopov EL, Giessl A, Mardin C, Hellerbrand C, Cooke Bailey JN, Igo RP Jr, Haines JL, Edward DP, Heegaard S, Davila S, Tan P, Kang JH, Pasquale LR, Kruse FE, Reis A, Carmichael TR, Hauser M, Ramsay M, Mossböck G, Yildirim N, Tashiro K, Konstas AGP, Coca-Prados M, Foo JN, Kinoshita S, Sotozono C, Kubota T, Dubina M, Ritch R, Wiggs JL, Pasutto F, Schlötzer-Schrehardt U, Ho YS, Aung T, Tam WL, and Khor CC
Subjects: Aged, Aged, 80 and over, Anterior Chamber pathology, Case-Control Studies, Cytochrome P-450 Enzyme System genetics, Cytochrome P-450 Enzyme System metabolism, Female, Humans, Logistic Models, Male, Meta-Analysis as Topic, Middle Aged, RNA, Messenger metabolism, Exome Sequencing, Exfoliation Syndrome genetics, Genetic Variation, Steroid Hydroxylases genetics
Abstract: Importance: Exfoliation syndrome is a systemic disorder characterized by progressive accumulation of abnormal fibrillar protein aggregates manifesting clinically in the anterior chamber of the eye. This disorder is the most commonly known cause of glaucoma and a major cause of irreversible blindness., Objective: To determine if exfoliation syndrome is associated with rare, protein-changing variants predicted to impair protein function., Design, Setting, and Participants: A 2-stage, case-control, whole-exome sequencing association study with a discovery cohort and 2 independently ascertained validation cohorts. Study participants from 14 countries were enrolled between February 1999 and December 2019. The date of last clinical follow-up was December 2019. Affected individuals had exfoliation material on anterior segment structures of at least 1 eye as visualized by slit lamp examination. Unaffected individuals had no signs of exfoliation syndrome., Exposures: Rare, coding-sequence genetic variants predicted to be damaging by bioinformatic algorithms trained to recognize alterations that impair protein function., Main Outcomes and Measures: The primary outcome was the presence of exfoliation syndrome. Exome-wide significance for detected variants was defined as P < 2.5 × 10-6. The secondary outcomes included biochemical enzymatic assays and gene expression analyses., Results: The discovery cohort included 4028 participants with exfoliation syndrome (median age, 78 years [interquartile range, 73-83 years]; 2377 [59.0%] women) and 5638 participants without exfoliation syndrome (median age, 72 years [interquartile range, 65-78 years]; 3159 [56.0%] women). In the discovery cohort, persons with exfoliation syndrome, compared with those without exfoliation syndrome, were significantly more likely to carry damaging CYP39A1 variants (1.3% vs 0.30%, respectively; odds ratio, 3.55 [95% CI, 2.07-6.10]; P = 6.1 × 10-7). This outcome was validated in 2 independent cohorts. The first validation cohort included 2337 individuals with exfoliation syndrome (median age, 74 years; 1132 women; n = 1934 with demographic data) and 2813 individuals without exfoliation syndrome (median age, 72 years; 1287 women; n = 2421 with demographic data). The second validation cohort included 1663 individuals with exfoliation syndrome (median age, 75 years; 587 women; n = 1064 with demographic data) and 3962 individuals without exfoliation syndrome (median age, 74 years; 951 women; n = 1555 with demographic data). Of the individuals from both validation cohorts, 5.2% with exfoliation syndrome carried CYP39A1 damaging alleles vs 3.1% without exfoliation syndrome (odds ratio, 1.82 [95% CI, 1.47-2.26]; P < .001). Biochemical assays classified 34 of 42 damaging CYP39A1 alleles as functionally deficient (median reduction in enzymatic activity compared with wild-type CYP39A1, 94.4% [interquartile range, 78.7%-98.2%] for the 34 deficient variants). CYP39A1 transcript expression was 47% lower (95% CI, 30%-64% lower; P < .001) in ciliary body tissues from individuals with exfoliation syndrome compared with individuals without exfoliation syndrome., Conclusions and Relevance: In this whole-exome sequencing case-control study, presence of exfoliation syndrome was significantly associated with carriage of functionally deficient CYP39A1 sequence variants. Further research is needed to understand the clinical implications of these findings.
Published: 2021
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34. Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.

Author: Hauser MA, Allingham RR, Aung T, Van Der Heide CJ, Taylor KD, Rotter JI, Wang SJ, Bonnemaijer PWM, Williams SE, Abdullahi SM, Abu-Amero KK, Anderson MG, Akafo S, Alhassan MB, Asimadu I, Ayyagari R, Bakayoko S, Nyamsi PB, Bowden DW, Bromley WC, Budenz DL, Carmichael TR, Challa P, Chen YI, Chuka-Okosa CM, Cooke Bailey JN, Costa VP, Cruz DA, DuBiner H, Ervin JF, Feldman RM, Flamme-Wiese M, Gaasterland DE, Garnai SJ, Girkin CA, Guirou N, Guo X, Haines JL, Hammond CJ, Herndon L, Hoffmann TJ, Hulette CM, Hydara A, Igo RP Jr, Jorgenson E, Kabwe J, Kilangalanga NJ, Kizor-Akaraiwe N, Kuchtey RW, Lamari H, Li Z, Liebmann JM, Liu Y, Loos RJF, Melo MB, Moroi SE, Msosa JM, Mullins RF, Nadkarni G, Napo A, Ng MCY, Nunes HF, Obeng-Nyarkoh E, Okeke A, Okeke S, Olaniyi O, Olawoye O, Oliveira MB, Pasquale LR, Perez-Grossmann RA, Pericak-Vance MA, Qin X, Ramsay M, Resnikoff S, Richards JE, Schimiti RB, Sim KS, Sponsel WE, Svidnicki PV, Thiadens AAHJ, Uche NJ, van Duijn CM, de Vasconcellos JPC, Wiggs JL, Zangwill LM, Risch N, Milea D, Ashaye A, Klaver CCW, Weinreb RN, Ashley Koch AE, Fingert JH, and Khor CC
Subjects: Aged, Amyloid beta-Peptides genetics, Case-Control Studies, Female, Genetic Predisposition to Disease, Genotype, Humans, Immunohistochemistry, Male, Meta-Analysis as Topic, Middle Aged, Risk Factors, Adaptor Proteins, Signal Transducing genetics, Black People genetics, Genome-Wide Association Study, Glaucoma, Open-Angle ethnology, Glaucoma, Open-Angle genetics, Polymorphism, Single Nucleotide
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.
Published: 2019
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35. Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

Author: Aung T, Ozaki M, Mizoguchi T, Allingham RR, Li Z, Haripriya A, Nakano S, Uebe S, Harder JM, Chan AS, Lee MC, Burdon KP, Astakhov YS, Abu-Amero KK, Zenteno JC, Nilgün Y, Zarnowski T, Pakravan M, Safieh LA, Jia L, Wang YX, Williams S, Paoli D, Schlottmann PG, Huang L, Sim KS, Foo JN, Nakano M, Ikeda Y, Kumar RS, Ueno M, Manabe S, Hayashi K, Kazama S, Ideta R, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Inoue K, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Aihara M, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Matsuda F, Yamashiro K, Gotoh N, Miyake M, Astakhov SY, Osman EA, Al-Obeidan SA, Owaidhah O, Al-Jasim L, Shahwan SA, Fogarty RA, Leo P, Yetkin Y, Oğuz Ç, Kanavi MR, Beni AN, Yazdani S, Akopov EL, Toh KY, Howell GR, Orr AC, Goh Y, Meah WY, Peh SQ, Kosior-Jarecka E, Lukasik U, Krumbiegel M, Vithana EN, Wong TY, Liu Y, Koch AE, Challa P, Rautenbach RM, Mackey DA, Hewitt AW, Mitchell P, Wang JJ, Ziskind A, Carmichael T, Ramakrishnan R, Narendran K, Venkatesh R, Vijayan S, Zhao P, Chen X, Guadarrama-Vallejo D, Cheng CY, Perera SA, Husain R, Ho SL, Welge-Luessen UC, Mardin C, Schloetzer-Schrehardt U, Hillmer AM, Herms S, Moebus S, Nöthen MM, Weisschuh N, Shetty R, Ghosh A, Teo YY, Brown MA, Lischinsky I, Crowston JG, Coote M, Zhao B, Sang J, Zhang N, You Q, Vysochinskaya V, Founti P, Chatzikyriakidou A, Lambropoulos A, Anastasopoulos E, Coleman AL, Wilson MR, Rhee DJ, Kang JH, May-Bolchakova I, Heegaard S, Mori K, Alward WL, Jonas JB, Xu L, Liebmann JM, Chowbay B, Schaeffeler E, Schwab M, Lerner F, Wang N, Yang Z, Frezzotti P, Kinoshita S, Fingert JH, Inatani M, Tashiro K, Reis A, Edward DP, Pasquale LR, Kubota T, Wiggs JL, Pasutto F, Topouzis F, Dubina M, Craig JE, Yoshimura N, Sundaresan P, John SW, Ritch R, Hauser MA, and Khor CC
Published: 2015
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36. Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.

Author: Davila S, Wright VJ, Khor CC, Sim KS, Binder A, Breunis WB, Inwald D, Nadel S, Betts H, Carrol ED, de Groot R, Hermans PW, Hazelzet J, Emonts M, Lim CC, Kuijpers TW, Martinon-Torres F, Salas A, Zenz W, Levin M, and Hibberd ML
Subjects: Adolescent, Adult, Case-Control Studies, Child, Child, Preschool, Female, Genetic Linkage, Genome-Wide Association Study, Host-Pathogen Interactions genetics, Host-Pathogen Interactions immunology, Humans, Infant, Infant, Newborn, Male, Meningococcal Infections immunology, Middle Aged, Neisseria meningitidis immunology, Polymorphism, Single Nucleotide, Young Adult, Complement Factor H genetics, Genetic Predisposition to Disease, Meningococcal Infections genetics
Abstract: Meningococcal disease is an infection caused by Neisseria meningitidis. Genetic factors contribute to host susceptibility and progression to disease, but the genes responsible for disease development are largely unknown. We report here a genome-wide association study for host susceptibility to meningococcal disease using 475 individuals with meningococcal disease (cases) and 4,703 population controls from the UK. We performed, in Western European and South European cohorts (consisting of 968 cases and 1,376 controls), two replication studies for the most significant SNPs. A cluster of complement factor SNPs replicated independently in both cohorts, including SNPs within complement factor H (CFH) (rs1065489 (p.936D
Published: 2010
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