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Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.
Vithana, Eranga N; Khor, Chiea-Chuen; Qiao, Chunyan; Nongpiur, Monisha E; George, Ronnie; Chen, Li-Jia; Do, Tan; Abu-Amero, Khaled; Huang, Chor Kai; Low, Sancy; Tajudin, Liza-Sharmini A; Perera, Shamira A; Cheng, Ching-Yu; Xu, Liang; Jia, Hongyan; Ho, Ching-Lin; Sim, Kar Seng; Wu, Ren-Yi; Tham, Clement C Y; Chew, Paul T K; Su, Daniel H; Oen, Francis T; Sarangapani, Sripriya; Soumittra, Nagaswamy; Osman, Essam A; Wong, Hon-Tym; Tang, Guangxian; Fan, Sujie; Meng, Hailin; Huong, Dao T L; Wang, Hua; Feng, Bo; Baskaran, Mani; Shantha, Balekudaru; Ramprasad, Vedam L; Kumaramanickavel, Govindasamy; Iyengar, Sudha K; How, Alicia C; Lee, Kelvin Y; Sivakumaran, Theru A; Yong, Victor H K; Ting, Serena M L; Li, Yang; Wang, Ya-Xing; Tay, Wan-Ting; Sim, Xueling; Lavanya, Raghavan; Cornes, Belinda K; Zheng, Ying-Feng; Wong, Tina T.
Afiliación
  • Vithana EN; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.
  • Khor CC; Department of Ophthalmology, National University Health System & National University of Singapore, Singapore.
  • Qiao C; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.
  • Nongpiur ME; Department of Ophthalmology, National University Health System & National University of Singapore, Singapore.
  • George R; Infectious Diseases, Genome Institute of Singapore, Singapore.
  • Chen LJ; Human Genetics, Genome Institute of Singapore, Singapore.
  • Do T; Department of Paediatrics, National University Health System & National University of Singapore, Singapore.
  • Abu-Amero K; Saw Swee Hock School of Public Health, National University of Singapore, Singapore.
  • Huang CK; Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
  • Low S; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.
  • Tajudin LA; Department of Ophthalmology, National University Health System & National University of Singapore, Singapore.
  • Perera SA; Vision Research Foundation, Sankara Nethralaya, Chennai, India.
  • Cheng CY; Department of Ophthalmology & Visual Sciences, Chinese University of Hong Kong, Hong Kong, China.
  • Xu L; Vietnam National Institute of Ophthalmology, Hanoi, Vietnam.
  • Jia H; Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Ho CL; Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, Florida, USA.
  • Sim KS; Shantou University-Chinese University of Hong Kong Joint Shantou International Eye Center, Shantou, China.
  • Wu RY; National Institute for Health Research (NIHR) Biomedical Research Centre for Ophthalmology at Moorfields Eye Hospital and University College London (UCL) Institute of Ophthalmology, London, UK.
  • Tham CCY; Department of Ophthalmology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, Malaysia.
  • Chew PTK; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.
  • Su DH; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.
  • Oen FT; Department of Ophthalmology, National University Health System & National University of Singapore, Singapore.
  • Sarangapani S; Saw Swee Hock School of Public Health, National University of Singapore, Singapore.
  • Soumittra N; Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
  • Osman EA; Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
  • Wong HT; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.
  • Tang G; Human Genetics, Genome Institute of Singapore, Singapore.
  • Fan S; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.
  • Meng H; Xiamen Eye Centre, Xiamen University, Xiamen, China.
  • Huong DTL; Department of Ophthalmology & Visual Sciences, Chinese University of Hong Kong, Hong Kong, China.
  • Wang H; Department of Ophthalmology, National University Health System & National University of Singapore, Singapore.
  • Feng B; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.
  • Baskaran M; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.
  • Shantha B; Vision Research Foundation, Sankara Nethralaya, Chennai, India.
  • Ramprasad VL; Vision Research Foundation, Sankara Nethralaya, Chennai, India.
  • Kumaramanickavel G; Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Iyengar SK; Department of Ophthalmology, Tan Tock Seng Hospital, Singapore.
  • How AC; Xingtai Eye Hospital, Xingtai, China.
  • Lee KY; Handan Eye Hospital, Handan, China.
  • Sivakumaran TA; Anyang Eye Hospital, Anyang, China.
  • Yong VHK; Vietnam National Institute of Ophthalmology, Hanoi, Vietnam.
  • Ting SML; Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
  • Li Y; Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
  • Wang YX; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.
  • Tay WT; Vision Research Foundation, Sankara Nethralaya, Chennai, India.
  • Sim X; Vision Research Foundation, Sankara Nethralaya, Chennai, India.
  • Lavanya R; Vision Research Foundation, Sankara Nethralaya, Chennai, India.
  • Cornes BK; Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA.
  • Zheng YF; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.
  • Wong TT; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.
Nat Genet ; 44(10): 1142-1146, 2012 Oct.
Article en En | MEDLINE | ID: mdl-22922875
Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections. We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR)=1.22; P=5.33×10(-12)), rs3753841 in COL11A1 (per-allele OR=1.20; P=9.22×10(-10)) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR=1.50; P=3.29×10(-9)). Our findings, accumulated across these independent worldwide collections, suggest possible mechanisms explaining the pathogenesis of PACG.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Portadoras / Glaucoma de Ángulo Cerrado / Predisposición Genética a la Enfermedad / Proteína D-Aspartato-L-Isoaspartato Metiltransferasa / Colágeno Tipo XI / Estudio de Asociación del Genoma Completo Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2012 Tipo del documento: Article País de afiliación: Singapur Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Portadoras / Glaucoma de Ángulo Cerrado / Predisposición Genética a la Enfermedad / Proteína D-Aspartato-L-Isoaspartato Metiltransferasa / Colágeno Tipo XI / Estudio de Asociación del Genoma Completo Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2012 Tipo del documento: Article País de afiliación: Singapur Pais de publicación: Estados Unidos