دورية أكاديمية
A common variant near TGFBR3 is associated with primary open angle glaucoma.
| العنوان: | A common variant near TGFBR3 is associated with primary open angle glaucoma. |
|---|---|
| المؤلفون: | Li Z; Singapore Eye Research Institute, Division of Human Genetics, Genome Institute of Singapore, Singapore, Singapore., Allingham RR; Department of Ophthalmology, Duke University Eye Center, Durham, NC, USA., Nakano M; Department of Genomic Medical Sciences., Jia L; Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing, China., Chen Y; Department of Ophthalmology and Visual Science, Eye and ENT Hospital, Shanghai Medical School., Ikeda Y; Department of Ophthalmology., Mani B; Singapore Eye Research Institute, Department of Ophthalmology, Yong Loo Lin School of Medicine, Duke-NUS Graduate Medical School, Singapore, Singapore., Chen LJ; Department of Ophthalmology and Visual Sciences, The Chinese Uuniversity of Hong Kong Eye Hospital, Hong Kong, China., Kee C; Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University, School of Medicine, Seoul, Seoul Korea., Garway-Heath DF; National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and University College London Institute of Ophthalmology, London, UK., Sripriya S; SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India., Fuse N; Department of Integrative Genomics, Tohoku Medical Megabank Organization, Sendai, Japan., Abu-Amero KK; Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia, Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, FL, USA., Huang C; Chinese University of Hong Kong Joint Shantou International Eye Center, Shantou University, Shantou, China., Namburi P; Department of Genetics, Aravind Medical Research Foundation, Madurai, Tamilnadu, India., Burdon K; Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia, Department of Ophthalmology, Flinders University, Adelaide, Australia., Perera SA; Singapore Eye Research Institute, Duke-NUS Graduate Medical School, Singapore, Singapore, Singapore National Eye Center, Singapore, Singapore., Gharahkhani P; Department of Genetics and Computational Biology, Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Lin Y; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China., Ueno M; Department of Ophthalmology., Ozaki M; Ozaki Eye Hospital, 1-15, Kamezaki, Hyuga, Miyazaki 883-0066, Japan., Mizoguchi T; Mizoguchi Eye Hospital, 6-13 Tawara-machi, Sasebo, Nagasaki 857-0016, Japan., Krishnadas SR; Glaucoma Services, Aravind Eye Hospital, Madurai, Tamilnadu, India., Osman EA; Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Lee MC; Singapore Eye Research Institute., Chan AS; Singapore Eye Research Institute, Singapore National Eye Center, Singapore, Singapore., Tajudin LS; Department of Ophthalmology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia., Do T; Vietnam National Institute of Ophthalmology, Hanoi, Vietnam., Goncalves A; Ophthalmology Department., Reynier P; Biochemistry Department, Angers University Hospital, Angers, France., Zhang H; Department of Ophthalmology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Bourne R; Huntingdon Glaucoma Diagnostic & Research Centre, Hinchingbrooke Hospital, Huntingdon, UK., Goh D; Singapore National Eye Center, Singapore, Singapore., Broadway D; Norfolk & Norwich University Hospital NHS Trust, Norwich, UK., Husain R; Singapore National Eye Center, Singapore, Singapore., Negi AK; Heart of UK NHS Foundation Trust, Birmingham, UK., Su DH; Singapore National Eye Center, Singapore, Singapore., Ho CL; Singapore National Eye Center, Singapore, Singapore., Blanco AA; School of Medicine, Dentistry and Biomedical Sciences, Centre for Experimental Medicine, Queen's University Belfast, Northern Ireland, UK., Leung CK; Department of Ophthalmology and Visual Sciences, The Chinese Uuniversity of Hong Kong Eye Hospital, Hong Kong, China., Wong TT; Singapore Eye Research Institute, Duke-NUS Graduate Medical School, Singapore, Singapore, Singapore National Eye Center, Singapore, Singapore., Yakub A; Department of Ophthalmology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia., Liu Y; Department of Medicine, Duke University Medical Center, Durham, NC, USA, Department of Cellular Biology and Anatomy, Georgia Regents University, Augusta, Georgia., Nongpiur ME; Singapore Eye Research Institute, Department of Ophthalmology, Yong Loo Lin School of Medicine, Duke-NUS Graduate Medical School, Singapore, Singapore., Han JC; Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University, School of Medicine, Seoul, Seoul Korea., Hon DN; Vietnam National Institute of Ophthalmology, Hanoi, Vietnam., Shantha B; Medical Research Foundation, Sankara Nethralaya, Chennai, India., Zhao B; Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing, China., Sang J; Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing, China., Zhang N; Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing, China., Sato R; Department of Genomic Medical Sciences., Yoshii K; Department of Medical Statistics, Kyoto Prefectural University of Medicine, Kyoto, Japan., Panda-Jonas S; Department of Ophthalmology, Medical Faculty Mannheim of the Ruprecht-Karls-University Heidelberg, Heidelberg, Germany., Ashley Koch AE; Department of Medicine, Duke University Medical Center, Durham, NC, USA., Herndon LW; Department of Ophthalmology, Duke University Eye Center, Durham, NC, USA., Moroi SE; Department of Ophthalmology and Visual Sciences., Challa P; Department of Ophthalmology, Duke University Eye Center, Durham, NC, USA., Foo JN; Division of Human Genetics, Genome Institute of Singapore, Singapore, Singapore., Bei JX; State Key Laboratory of Oncology in Southern China, Guangzhou, China, Department of Experimental Research, Sun Yat-Sen University Cancer Centre, Guangzhou, China., Zeng YX; State Key Laboratory of Oncology in Southern China, Guangzhou, China, Department of Experimental Research, Sun Yat-Sen University Cancer Centre, Guangzhou, China., Simmons CP; Clinical Research Unit, Oxford University, 190 Ben Ham Tu, Ho Chi Minh City, Vietnam, Centre for Tropical Medicine, Nuffield Department of Clinical Medicine, Oxford University, Oxford OX3 7LJ, UK., Bich Chau TN; Clinical Research Unit, Oxford University, 190 Ben Ham Tu, Ho Chi Minh City, Vietnam., Sharmila PF; SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India., Chew M; Singapore Eye Research Institute., Lim B; Singapore Eye Research Institute., Tam PO; Department of Ophthalmology and Visual Sciences, The Chinese Uuniversity of Hong Kong Eye Hospital, Hong Kong, China., Chua E; Singapore Eye Research Institute., Ng XY; Singapore Eye Research Institute., Yong VH; Singapore Eye Research Institute., Chong YF; Singapore Eye Research Institute., Meah WY; Division of Human Genetics, Genome Institute of Singapore, Singapore, Singapore., Vijayan S; Department of Genetics, Aravind Medical Research Foundation, Madurai, Tamilnadu, India., Seongsoo S; Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University, School of Medicine, Seoul, Seoul Korea., Xu W; Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore., Teo YY; Division of Human Genetics, Genome Institute of Singapore, Singapore, Singapore, Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore., Cooke Bailey JN; Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA., Kang JH; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA., Haines JL; Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA., Cheng CY; Singapore Eye Research Institute, Department of Ophthalmology, Yong Loo Lin School of Medicine, Duke-NUS Graduate Medical School, Singapore, Singapore, Singapore National Eye Center, Singapore, Singapore., Saw SM; Singapore Eye Research Institute, Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore., Tai ES; Department of Medicine, National University Health System & National University of Singapore, Singapore., Richards JE; Department of Ophthalmology and Visual Sciences, Department of Epidemiology, University of Michigan, Ann Arbor, MI, USA., Ritch R; Einhorn Clinical Research Center, Department of Ophthalmology, New York Eye and Ear Infirmary, New York, NY, USA., Gaasterland DE; Eye Doctors of Washington DC, Washington, DC, USA., Pasquale LR; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA, Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA., Liu J; Division of Human Genetics, Genome Institute of Singapore, Singapore, Singapore., Jonas JB; Department of Ophthalmology, Medical Faculty Mannheim of the Ruprecht-Karls-University Heidelberg, Heidelberg, Germany., Milea D; Singapore Eye Research Institute, Duke-NUS Graduate Medical School, Singapore, Singapore, Singapore National Eye Center, Singapore, Singapore., George R; Medical Research Foundation, Sankara Nethralaya, Chennai, India., Al-Obeidan SA; Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Mori K; Department of Ophthalmology., Macgregor S; Department of Genetics and Computational Biology, Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Hewitt AW; Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia, Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, VIC, Australia., Girkin CA; Department of Ophthalmology, University of Alabama at Birmingham, Birmingham, AL, USA., Zhang M; Chinese University of Hong Kong Joint Shantou International Eye Center, Shantou University, Shantou, China., Sundaresan P; Department of Genetics, Aravind Medical Research Foundation, Madurai, Tamilnadu, India., Vijaya L; Medical Research Foundation, Sankara Nethralaya, Chennai, India., Mackey DA; Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia, Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, WA, Australia., Wong TY; Singapore Eye Research Institute, Singapore National Eye Center, Singapore, Singapore, Department of Ophthalmology, Yong Loo Lin School of Medicine., Craig JE; Department of Ophthalmology, Flinders University, Adelaide, Australia., Sun X; Department of Ophthalmology and Visual Science, Eye and ENT Hospital, Shanghai Medical School, State Key Laboratory of Medical Neurobiology, Institutes of Brain Science, Fudan University, Shanghai, China, Myopia Key Laboratory of the Ministry of Health of China, Shanghai, China and., Kinoshita S; Department of Ophthalmology., Wiggs JL; Department of Ophthalmology, University of Alabama at Birmingham, Birmingham, AL, USA., Khor CC; Division of Human Genetics, Genome Institute of Singapore, Singapore, Singapore, Department of Ophthalmology, Yong Loo Lin School of Medicine, eranga.n.v@sericom.sg khorcc@gis.a-star.edu.sg., Yang Z; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China, Chinese Academy of Sciences, Sichuan Translational Medicine Hospital, Chengdu, China., Pang CP; Department of Ophthalmology and Visual Sciences, The Chinese Uuniversity of Hong Kong Eye Hospital, Hong Kong, China., Wang N; Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing, China., Hauser MA; Department of Ophthalmology, Duke University Eye Center, Durham, NC, USA, Department of Medicine, Duke University Medical Center, Durham, NC, USA., Tashiro K; Department of Genomic Medical Sciences., Aung T; Singapore Eye Research Institute, Singapore National Eye Center, Singapore, Singapore, Department of Ophthalmology, Yong Loo Lin School of Medicine, Duke-NUS Graduate Medical School, Singapore, Singapore., Vithana EN; Singapore Eye Research Institute, Department of Ophthalmology, Yong Loo Lin School of Medicine, Duke-NUS Graduate Medical School, Singapore, Singapore, eranga.n.v@sericom.sg khorcc@gis.a-star.edu.sg. |
| مؤلفون مشاركون: | ICAARE-Glaucoma Consortium, NEIGHBORHOOD Consortium |
| المصدر: | Human molecular genetics [Hum Mol Genet] 2015 Jul 01; Vol. 24 (13), pp. 3880-92. Date of Electronic Publication: 2015 Apr 10. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Oxford, England ; New York : IRL Press at Oxford University Press, c1992- |
| مواضيع طبية MeSH: | Polymorphism, Single Nucleotide*, Glaucoma, Open-Angle/*genetics , Proteoglycans/*genetics , Receptors, Transforming Growth Factor beta/*genetics, Aged ; Aged, 80 and over ; Alleles ; Female ; Genetic Variation ; Genotype ; Humans ; Male ; Middle Aged |
| مستخلص: | Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10(-33)), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10(-8)). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis. (© The Author 2015. Published by Oxford University Press.) |
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| معلومات مُعتمدة: | R01 EY011671 United States EY NEI NIH HHS; R01 EY023646 United States EY NEI NIH HHS; U01 HG004728 United States HG NHGRI NIH HHS; T32 EY007157 United States EY NEI NIH HHS; R01 CA001833 United States CA NCI NIH HHS; P01 HL073042 United States HL NHLBI NIH HHS; T32 EY021453 United States EY NEI NIH HHS; R01 EY013178 United States EY NEI NIH HHS; R01 EY015473 United States EY NEI NIH HHS; HHSN268200782096C United States HL NHLBI NIH HHS; UM1 CA167552 United States CA NCI NIH HHS; U01 HG004608 United States HG NHGRI NIH HHS; R01 EY013315 United States EY NEI NIH HHS; U01 HG004446 United States HG NHGRI NIH HHS; P30 EY005722 United States EY NEI NIH HHS; R01 EY011008 United States EY NEI NIH HHS; P01 CA087969 United States CA NCI NIH HHS; U01 HG004424 United States HG NHGRI NIH HHS; R01 HL073389 United States HL NHLBI NIH HHS; R01 EY012118 United States EY NEI NIH HHS; R01 EY015543 United States EY NEI NIH HHS; R56 EY011671 United States EY NEI NIH HHS; R01 EY008208 United States EY NEI NIH HHS; R01 CA136725 United States CA NCI NIH HHS; R01 EY019126 United States EY NEI NIH HHS; R03 EY015682 United States EY NEI NIH HHS; R01 EY022305 United States EY NEI NIH HHS; P20 RR015574 United States RR NCRR NIH HHS; R01 EY009580 United States EY NEI NIH HHS; U10 EY012118 United States EY NEI NIH HHS; R01 CA049449 United States CA NCI NIH HHS; P30 EY014104 United States EY NEI NIH HHS; R01 EY015872 United States EY NEI NIH HHS; R01 EY009847 United States EY NEI NIH HHS; R01 EY010886 United States EY NEI NIH HHS; U01 CA049449 United States CA NCI NIH HHS; R01 EY023512 United States EY NEI NIH HHS; R01 EY018660 United States EY NEI NIH HHS |
| المشرفين على المادة: | 0 (Proteoglycans) 0 (Receptors, Transforming Growth Factor beta) 145170-29-2 (betaglycan) |
| تواريخ الأحداث: | Date Created: 20150412 Date Completed: 20160428 Latest Revision: 20240615 |
| رمز التحديث: | 20240615 |
| مُعرف محوري في PubMed: | PMC4459396 |
| DOI: | 10.1093/hmg/ddv128 |
| PMID: | 25861811 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1460-2083 |
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| DOI: | 10.1093/hmg/ddv128 |