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A common variant near TGFBR3 is associated with primary open angle glaucoma

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单位: [1]Academia, Singapore 169856, Singapore [2]Singapore Eye Res Inst, Singapore, Singapore [3]Singapore Natl Eye Ctr, Singapore, Singapore [4]Genome Inst Singapore, Div Human Genet, Singapore, Singapore [5]Duke Univ, Ctr Eye, Dept Ophthalmol, Durham, NC 27710 USA [6]Kyoto Prefectural Univ Med, Dept Genom Med Sci, Kyoto, Japan [7]Kyoto Prefectural Univ Med, Dept Ophthalmol, Kyoto, Japan [8]Kyoto Prefectural Univ Med, Dept Med Stat, Kyoto, Japan [9]Capital Med Univ, Beijing Tongren Eye Ctr, Beijing Tongren Hosp, Beijing Ophthalmol & Visual Sci Key Lab, Beijing, Peoples R China [10]Fudan Univ, Eye & ENT Hosp, Shanghai Med Sch, Dept Ophthalmol & Visual Sci, Shanghai, Peoples R China [11]Fudan Univ, Inst Brain Sci, State Key Lab Med Neurobiol, Shanghai, Peoples R China [12]Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Ophthalmol, Singapore 117595, Singapore [13]Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore, Singapore [14]Duke NUS Grad Med Sch, Singapore, Singapore [15]Chinese Univ Hong Kong, Hosp Eye, Dept Ophthalmol & Visual Sci, Hong Kong, Peoples R China [16]Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Ophthalmol, Seoul, South Korea [17]UCL, Nat Inst Hlth Res Biomed Res Ctr, Moorfields Eye Hosp NHS Fdn Trust, London, England [18]UCL, Inst Ophthalmol, London, England [19]SNONGC, Sankara Nethralaya, Dept Mol Biol & Genet, Vision Res Fdn, Madras, Tamil Nadu, India [20]Tohoku Med Megabank Org, Dept Integrat Genom, Sendai, Miyagi, Japan [21]King Saud Univ, Coll Med, Dept Ophthalmol, Riyadh, Saudi Arabia [22]Univ Florida, Coll Med, Dept Ophthalmol, Jacksonville, FL USA [23]Shantou Univ, Chinese Univ Hong Kong Joint Shantou Int Eye Ctr, Shantou, Peoples R China [24]Aravind Med Res Fdn, Dept Genet, Madurai, Tamil Nadu, India [25]Univ Tasmania, Menzies Inst Med Res, Hobart, Tas, Australia [26]Flinders Univ S Australia, Dept Ophthalmol, Adelaide, SA, Australia [27]QIMR Berghofer Med Res Inst, Dept Genet & Computat Biol, Brisbane, Qld, Australia [28]Hosp Univ Elect Sci & Technol China, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Peoples R China [29]Hosp Univ Elect Sci & Technol China, Sichuan Prov Peoples Hosp, Chengdu, Peoples R China [30]Univ Elect Sci & Technol China, Sch Med, Chengdu, Peoples R China [31]Ozaki Eye Hosp, Hyuga, Miyazaki 8830066, Japan [32]Mizoguchi Eye Hosp, Sasebo, Nagasaki 8570016, Japan [33]Aravind Eye Hosp, Glaucoma Serv, Madurai, Tamil Nadu, India [34]Univ Sains Malaysia, Sch Med Sci, Dept Ophthalmol, Kota Baharu, Kelantan, Malaysia [35]Vietnam Natl Inst Ophthalmol, Hanoi, Vietnam [36]Angers Univ Hosp, Dept Ophthalmol, Angers, France [37]Huazhong Univ Sci & Technol,Tongji Hosp,Tongji Med Coll,Dept Ophthalmol,Wuhan 430074,Peoples R China [38]Hinchingbrooke Hosp, Huntingdon Glaucoma Diagnost & Res Ctr, Huntingdon, England [39]Norfolk & Norwich Univ Hosp NHS Trust, Norwich, Norfolk, England [40]Heart UK NHS Fdn Trust, Birmingham, W Midlands, England [41]Queens Univ Belfast, Ctr Med Expt, Sch Med Dent & Biomed Sci, Belfast BT7 1NN, Antrim, North Ireland [42]Duke Univ, Med Ctr, Dept Med, Durham, NC 27710 USA [43]Georgia Regents Univ, Dept Cell Biol & Anat, Augusta, GA USA [44]Sankara Nethralaya, Med Res Fdn, Madras, Tamil Nadu, India [45]Heidelberg Univ, Med Fac Mannheim, Dept Ophthalmol, Heidelberg, Germany [46]Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48109 USA [47]Univ Michigan, Dept Epidemiol, Ann Arbor, MI 48109 USA [48]State Key Lab Oncol Southern China, Guangzhou, Guangdong, Peoples R China [49]Sun Yat Sen Univ, Ctr Canc, Dept Expt Res, Guangzhou 510275, Guangdong, Peoples R China [50]Univ Oxford, Clin Res Unit, Ho Chi Minh City, Vietnam [51]Univ Oxford, Ctr Trop Med, Nuffield Dept Clin Med, Oxford OX3 7LJ, England [52]Case Western Reserve Univ, Dept Epidemiol & Biostat, Cleveland, OH 44106 USA [53]Brigham & Womens Hosp, Channing Div Network Med, Boston, MA 02115 USA [54]Natl Univ Hlth Syst, Dept Med, Singapore, Singapore [55]Natl Univ Singapore, Singapore 117548, Singapore [56]New York Eye & Ear Infirm, Einhorn Clin Res Ctr, Dept Ophthalmol, New York, NY 10003 USA [57]Eye Doctors Washington DC, Washington, DC USA [58]Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Dept Ophthalmol, Boston, MA USA [59]Univ Melbourne, Royal Victorian Eye & Ear Hosp, CERA, Melbourne, Vic, Australia [60]Univ Alabama Birmingham, Dept Ophthalmol, Birmingham, AL USA [61]Univ Western Australia, Ctr Ophthalmol & Visual Sci, Lions Eye Inst, Perth, WA 6009, Australia [62]Minist Hlth China, Myopia Key Lab, Shanghai, Peoples R China [63]Chinese Acad Sci, Sichuan Translat Med Hosp, Chengdu, Peoples R China [64]Angers Univ Hosp, Dept Biochem, Angers, France
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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 x 10(-33)), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, ORG-allele = 1.13, P-meta = 1.60 x 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.

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出版当年[2014]版:
大类 | 2 区 生物
小类 | 2 区 生化与分子生物学 2 区 遗传学
最新[2025]版:
大类 | 2 区 生物学
小类 | 3 区 生化与分子生物学 3 区 遗传学
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出版当年[2013]版:
Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Q1 GENETICS & HEREDITY
最新[2023]版:
Q2 GENETICS & HEREDITY Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY

影响因子: 最新[2023版] 最新五年平均 出版当年[2013版] 出版当年五年平均 出版前一年[2012版] 出版后一年[2014版]

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第一作者单位: [2]Singapore Eye Res Inst, Singapore, Singapore [4]Genome Inst Singapore, Div Human Genet, Singapore, Singapore
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通讯机构: [1]Academia, Singapore 169856, Singapore [2]Singapore Eye Res Inst, Singapore, Singapore [12]Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Ophthalmol, Singapore 117595, Singapore [14]Duke NUS Grad Med Sch, Singapore, Singapore [*1]Academia, 20 Coll Rd,Discovery Tower Level 6, Singapore 169856, Singapore
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