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Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

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机构: [1]Kings Coll London, Dept Twin Res & Genet Epidemiol, London, England [2]Singapore Natl Eye Ctr, Singapore Eye Res Inst, Singapore, Singapore [3]Natl Univ Singapore, Dept Ophthalmol, Singapore 117548, Singapore [4]Natl Univ Hlth Syst, Singapore, Singapore [5]Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore 117548, Singapore [6]Duke Natl Univ Singapore, Grad Sch Med, Singapore, Singapore [7]Erasmus MC, Dept Ophthalmol, Rotterdam, Netherlands [8]Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands [9]Royal Brisbane Hosp, QIMR Berghofer Med Res Inst, Brisbane, Qld 4029, Australia [10]Case Western Reserve Univ, Dept Epidemiol & Biostat, Cleveland, OH 44106 USA [11]Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA [12]Natl Human Genome Res Inst, US Natl Inst Hlth, Baltimore, MD USA [13]Univ Edinburgh, Inst Genet & Mol Med, MRC, Human Genet Unit, Edinburgh, Midlothian, Scotland [14]Univ Melbourne, Royal Victorian Eye & Ear Hosp, Ctr Eye Res Australia, Melbourne, Vic, Australia [15]Univ Med Ctr Mainz, Dept Ophthalmol, Mainz, Germany [16]UCL, Inst Ophthalmol, London, England [17]deCODE Amgen, Reykjavik, Iceland [18]Genome Inst Singapore, Div Human Genet, Singapore, Singapore [19]Eye Clin, Reykjavik, Iceland [20]Capital Univ Med Sci, Beijing Tongren Hosp, Beijing Inst Ophthalmol, Beijing, Peoples R China [21]Univ Med Ctr Mainz, Dept Internal Med 2, Mainz, Germany [22]Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA [23]Natl Hlth Serv NHS Princess Alexandra Eye Pavil, Edinburgh, Midlothian, Scotland [24]Univ Heart Ctr Hamburg, Clin Gen & Intervent Cardiol, Hamburg, Germany [25]Natl Univ Singapore, Dept Stat & Appl Probabil, Singapore 117548, Singapore [26]Duke Univ, Duke Eye Ctr, Durham, NC USA [27]Duke Univ, Med Ctr, Dept Ophthalmol, Durham, NC 27710 USA [28]Univ Hosp Schleswig Holstein, Inst Med Biometry & Stat, Lubeck, Germany [29]INSERM, UMR 774, F-59045 Lille, France [30]Univ Lille 2, Lille, France [31]Inst Pasteur, F-59019 Lille, France [32]Univ Edinburgh, Sch Med, Ctr Populat Hlth Sci, Edinburgh, Midlothian, Scotland [33]Harvard Univ, Sch Med, Channing Div Network Med, Boston, MA USA [34]Landspitali Natl Univ Hosp, Dept Ophthalmol, Reykjavik, Iceland [35]Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO9 5NH, Hants, England [36]Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48109 USA [37]Univ Groningen, Univ Med Ctr Groningen, Dept Ophthalmol, Groningen, Netherlands [38]Univ Western Australia, Lions Eye Inst, Ctr Ophthalmol & Visual Sci, Perth, WA 6009, Australia [39]Natl Univ Singapore, Dept Med, Singapore 117548, Singapore [40]Ctr Hosp Reg Univ Lille, Lille, France [41]Portsmouth Hosp NHS Trust, Dept Ophthalmol, Portsmouth, Hants, England [42]Duke Univ, Med Ctr, Dept Med, Durham, NC 27710 USA [43]Univ Iceland, Fac Med, Reykjavik, Iceland [44]Univ Queensland, Diamantina Inst, Woollongabba, Qld, Australia [45]Harvard Univ, Sch Med, Dept Ophthalmol, Boston, MA USA [46]Massachusetts Eye & Ear Infirm, Boston, MA 02114 USA [47]Flinders Univ S Australia, Dept Ophthalmol, Adelaide, SA 5001, Australia [48]Erasmus MC, Dept Internal Med, Rotterdam, Netherlands [49]Netherlands Consortium Healthy Ageing, Netherlands Genom Initiat, The Hague, Netherlands [50]Inst Clin Chem, Mainz, Germany [51]Lab Med, Mainz, Germany [52]Netherlands Inst Neurosci, Amsterdam, Netherlands [53]Leiden Univ, Med Ctr, Dept Ophthalmol, Leiden, Netherlands [54]Acad Med Ctr, Dept Ophthalmol, Amsterdam, Netherlands [55]Univ Western Australia, Sch Womens & Infants Hlth, Perth, WA 6009, Australia [56]Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands [57]Univ Southampton, Fac Med, Southampton SO9 5NH, Hants, England [58]Univ Bordeaux, ISPED, Bordeaux, France [59]INSERM, Ctr INSERM Epidemiol Biostat Bordeaux U897, Bordeaux, France [60]Rotterdam Eye Hosp, Glaucoma Serv, Rotterdam, Netherlands [61]Moorfields Eye Hosp NHS Fdn Trust, Biomed Res Ctr, NIHR, London, England
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Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 x 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 x 10(-11) for rs2472493 near ABCA1 and P = 6.39 x 10(-11) for rs8176693 within ABO) and one on chromosome 11p11.2 (best P = 1.04 x 10(-11) for rs747782). Separate meta-analyses of 4 independent POAG cohorts, totaling 4,284 cases and 95,560 controls, showed that 3 of these loci for IOP were also associated with POAG.

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出版当年[2013]版:
大类 | 1 区 生物
小类 | 1 区 遗传学
最新[2025]版:
大类 | 1 区 生物学
小类 | 1 区 遗传学
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出版当年[2012]版:
Q1 GENETICS & HEREDITY
最新[2023]版:
Q1 GENETICS & HEREDITY

影响因子: 最新[2023版] 最新五年平均 出版当年[2012版] 出版当年五年平均 出版前一年[2011版] 出版后一年[2013版]

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第一作者机构: [1]Kings Coll London, Dept Twin Res & Genet Epidemiol, London, England
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通讯作者:
通讯机构: [2]Singapore Natl Eye Ctr, Singapore Eye Res Inst, Singapore, Singapore [3]Natl Univ Singapore, Dept Ophthalmol, Singapore 117548, Singapore [4]Natl Univ Hlth Syst, Singapore, Singapore
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