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Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.
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 O S; Tran, Tuan Anh; Ayub, Humaira; Akhtar, Farah; Micheal, Shazia; Chew, Paul T K; 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.
Afiliação
  • Khor CC; Genome Institute of Singapore, A-STAR, Singapore.
  • Do T; Singapore Eye Research Institute, Singapore National Eye Centre and Eye ACP, Duke-National University of Singapore, Singapore.
  • Jia H; Department of Biochemistry, National University of Singapore, Singapore.
  • Nakano M; Vietnam National Institute of Ophthalmology, Hanoi, Vietnam.
  • George R; Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China.
  • Abu-Amero K; Department of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Duvesh R; Jadhavbhai Nathamal Singhvi Department of Glaucoma, Medical Research Foundation, Sankara Nethralaya, Chennai, India.
  • Chen LJ; Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Li Z; Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, Florida, USA.
  • Nongpiur ME; Department of Genetics, Aravind Medical Research Foundation, Madurai, India.
  • Perera SA; Department of Ophthalmology and Visual Sciences, Chinese University of Hong Kong, Hong Kong, China.
  • Qiao C; Genome Institute of Singapore, A-STAR, Singapore.
  • Wong HT; Singapore Eye Research Institute, Singapore National Eye Centre and Eye ACP, Duke-National University of Singapore, Singapore.
  • Sakai H; Singapore Eye Research Institute, Singapore National Eye Centre and Eye ACP, Duke-National University of Singapore, Singapore.
  • Barbosa de Melo M; Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China.
  • Lee MC; Department of Ophthalmology, Tan Tock Seng Hospital, NHG Eye Institute, Singapore.
  • Chan AS; Department of Ophthalmology, University of the Ryukyus, Okinawa, Nishihara, Japan.
  • Azhany Y; Center of Molecular Biology and Genetic Engineering, University of Campinas, Campinas, Brazil.
  • Dao TL; Singapore Eye Research Institute, Singapore National Eye Centre and Eye ACP, Duke-National University of Singapore, Singapore.
  • Ikeda Y; Singapore Eye Research Institute, Singapore National Eye Centre and Eye ACP, Duke-National University of Singapore, Singapore.
  • Perez-Grossmann RA; Department of Ophthalmology, School of Medical Sciences, Health Campus, Universiti Sains Malaysia and Hospital Universiti Sains Malaysia, Kelantan, Malaysia.
  • Zarnowski T; Vietnam National Institute of Ophthalmology, Hanoi, Vietnam.
  • Day AC; Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Jonas JB; Instituto de Glaucoma y Catarata, Lima, Peru.
  • Tam PO; Department of Diagnostics and Microsurgery of Glaucoma, Medical University, Lublin, Poland.
  • Tran TA; NIHR Biomedical Research Centre for Ophthalmology at Moorfields Eye Hospital and University College London Institute of Ophthalmology, London, UK.
  • Ayub H; Glaucoma Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
  • Akhtar F; Division of Genetics, UCL Institute of Ophthalmology, London, UK.
  • Micheal S; Department of Ophthalmology, Medical Faculty Mannheim of the Ruprecht Karls University Heidelberg, Heidelberg, Germany.
  • Chew PT; Department of Ophthalmology and Visual Sciences, Chinese University of Hong Kong, Hong Kong, China.
  • Aljasim LA; Ho Chi Minh City Eye Hospital, Ho Chi Minh City, Vietnam.
  • Dada T; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.
  • Luu TT; Pakistan Institute of Ophthalmology, Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan.
  • Awadalla MS; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.
  • Kitnarong N; Department of Ophthalmology, National University Health System, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
  • Wanichwecharungruang B; King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
  • Aung YY; All India Institute of Medical Sciences, New Delhi, India.
  • Mohamed-Noor J; Department of Glaucoma, Da Nang Eye Hospital, Da Nang City, Vietnam.
  • Vijayan S; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia.
  • Sarangapani S; Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Husain R; Glaucoma Services, Department of Ophthalmology, Rajavithi Hospital, Bangkok, Thailand.
  • Jap A; College of Medicine, Rangsit University, Bangkok, Thailand.
  • Baskaran M; Mandalay Eye Department, Mandalay Eye ENT Hospital, University of Medicine Mandalay, Mandalay, Myanmar.
  • Goh D; Department of Ophthalmology, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
  • Su DH; Department of Genetics, Aravind Medical Research Foundation, Madurai, India.
  • Wang H; Vision Research Foundation, Sankara Nethralaya, Chennai, India.
  • Yong VK; Singapore Eye Research Institute, Singapore National Eye Centre and Eye ACP, Duke-National University of Singapore, Singapore.
  • Yip LW; Division of Ophthalmology, Changi General Hospital, Singapore.
  • Trinh TB; Singapore Eye Research Institute, Singapore National Eye Centre and Eye ACP, Duke-National University of Singapore, Singapore.
  • Makornwattana M; Division of Ophthalmology, Changi General Hospital, Singapore.
Nat Genet ; 48(5): 556-62, 2016 May.
Article em En | MEDLINE | ID: mdl-27064256
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glaucoma de Ângulo Fechado / Predisposição Genética para Doença / Estudo de Associação Genômica Ampla Tipo de estudo: Risk_factors_studies / Systematic_reviews Limite: Female / Humans / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Singapura
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glaucoma de Ângulo Fechado / Predisposição Genética para Doença / Estudo de Associação Genômica Ampla Tipo de estudo: Risk_factors_studies / Systematic_reviews Limite: Female / Humans / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Singapura