高级检索
当前位置: 首页 > 详情页

New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

文献详情

资源类型:
WOS体系:
Pubmed体系:

收录情况: ◇ SCIE

作者:
机构: [1]Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands [2]Erasmus MC, Dept Ophthalmol, Rotterdam, Netherlands [3]Erasmus MC, Dept Clin Sci, Rotterdam, Netherlands [4]Royal Brisbane Hosp, QIMR Berghofer Med Res Inst, Stat Genet, Brisbane, Qld, Australia [5]Vrije Univ Amsterdam, Ctr Neurogenom & Cognit Res, Dept Complex Trait Genet, Amsterdam, Netherlands [6]Univ Bern, Univ Hosp Bern, Inselspital, Dept Ophthalmol, Bern, Switzerland [7]Univ Med Ctr Mainz, Dept Ophthalmol, Mainz, Germany [8]Natl Human Genome Res Inst NIH, Computat & Stat Genom Branch, Baltimore, MD USA [9]Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA [10]Johns Hopkins Sch Med, Wilmer Eye Inst, Baltimore, MD USA [11]Moorfields Eye Hosp NHS Fdn Trust, NIHR Biomed Res Ctr, London, England [12]UCL, Inst Ophthalmol, London, England [13]Kings Coll London, Dept Twin Res & Genet Epidemiol, London, England [14]Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Beijing Inst Ophthalmol, Beijing, Peoples R China [15]Beijing Ophthalmol & Visual Sci Key Lab, Beijing, Peoples R China [16]Univ Sydney, Ctr Vis Res, Dept Ophthalmol, Sydney, NSW, Australia [17]Univ Sydney, Westmead Inst Med Res, Sydney, NSW, Australia [18]Univ Southampton, Fac Nat & Environm Sci, Ctr Biol Sci, Southampton, Hants, England [19]Case Western Reserve Univ, Dept Epidemiol & Biostat, Cleveland, OH 44106 USA [20]Singapore Natl Eye Ctr, Singapore Eye Res Inst, Singapore, Singapore [21]Duke Natl Univ Singapore, Grad Sch Med, Singapore, Singapore [22]Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Ophthalmol, Singapore, Singapore [23]Univ Edinburgh, Inst Genet & Mol Med, Med Res Council Human Genet Unit, Edinburgh, Midlothian, Scotland [24]Univ Heart Ctr Hamburg, Clin Gen & Intervent Cardiol, Hamburg, Germany [25]German Ctr Cardiovasc Res DZHK, Partner Site Hamburg, Hamburg, Germany [26]Univ Cambridge, Sch Clin Med, Inst Publ Hlth, Dept Publ Hlth & Primary Care, Cambridge, England [27]Univ Western Australia, Lions Eye Inst, Ctr Ophthalmol & Visual Sci, Perth, WA, Australia [28]Univ Southampton, Fac Med, Clin & Expt Sci, Southampton, Hants, England [29]Flinders Univ S Australia, Dept Ophthalmol, Adelaide, SA, Australia [30]Univ Edinburgh, Usher Inst Populat Hlth Sci & Informat, Ctr Global Hlth Res, Edinburgh EH8 9YL, Midlothian, Scotland [31]Univ Melbourne, Royal Victorian Eye & Ear Hosp, Ctr Eye Res Australia, Melbourne, Vic, Australia [32]Brigham & Womens Hosp, Dept Med, Div Network Med, Boston, MA USA [33]Genome Inst Singapore, Div Human Genet, Singapore, Singapore [34]Erasmus MC, Dept Internal Med, Rotterdam, Netherlands [35]Netherlands Genom Initiat, Netherlands Consortium Healthy Ageing, The Hague, Netherlands [36]Acad Med Ctr, Dept Ophthalmol, Amsterdam, Netherlands [37]Leiden Univ, Med Ctr, Dept Ophthalmol, Leiden, Netherlands [38]Netherlands Inst Neurosci KNAW, Amsterdam, Netherlands [39]Natl Univ Singapore, Dept Med, Singapore, Singapore [40]Natl Univ Hlth Syst, Singapore, Singapore [41]Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore, Singapore [42]Natl Univ Singapore, Dept Stat & Appl Probabil, Singapore, Singapore [43]Rotterdam Eye Hosp, Glaucoma Serv, Rotterdam, Netherlands [44]Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Biochem, Singapore, Singapore [45]Univ Med Ctr Mainz, Inst Clin Chem, Mainz, Germany [46]Univ Med Ctr Mainz, Lab Med, Mainz, Germany [47]Univ Groningen, Univ Med Ctr Groningen, Dept Ophthalmol, Groningen, Netherlands [48]Queensland Inst Med Res, Dept Mol Epidemiol, Brisbane, Qld, Australia [49]Univ Med Ctr Mainz, Prevent Cardiol & Prevent Med Ctr Cardiol, Mainz, Germany [50]Univ Med Ctr Mainz, Ctr Thrombosis & Hemostasis, Mainz, Germany [51]German Ctr Cardiovasc Res DZHK, Partner Site RhineMain, Mainz, Germany [52]Univ Wisconsin, Sch Med & Publ Hlth, Dept Ophthalmol & Visual Sci, Madison, WI USA [53]Univ Tasmania, Menzies Res Inst Tasmania, Sch Med, Hobart, Tas, Australia [54]Harvard Med Sch, Dept Ophthalmol, Boston, MA USA [55]Massachusetts Eye & Ear Infirm, Boston, MA 02114 USA [56]Heidelberg Univ, Med Fac Mannheim, Dept Ophthalmol, Heidelberg, Germany
出处:
ISSN:

摘要:
Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable disease. Siblings of POAG cases have a ten-fold increased risk of developing the disease. Intraocular pressure (IOP) and optic nerve head characteristics are used clinically to predict POAG risk. We conducted a genome-wide association meta-analysis of IOP and optic disc parameters and validated our findings in multiple sets of POAG cases and controls. Using imputation to the 1000 genomes (1000G) reference set, we identified 9 new genomic regions associated with vertical cup-disc ratio (VCDR) and 1 new region associated with IOP. Additionally, we found 5 novel loci for optic nerve cup area and 6 for disc area. Previously it was assumed that genetic variation influenced POAG either through IOP or via changes to the optic nerve head; here we present evidence that some genomic regions affect both IOP and the disc parameters. We characterized the effect of the novel loci through pathway analysis and found that pathways involved are not entirely distinct as assumed so far. Further, we identified a novel association between CDKN1A and POAG. Using a zebrafish model we show that six6b (associated with POAG and optic nerve head variation) alters the expression of cdkn1a. In summary, we have identified several novel genes influencing the major clinical risk predictors of POAG and showed that genetic variation in CDKN1A is important in POAG risk.

基金:
语种:
被引次数:
WOS:
PubmedID:
中科院(CAS)分区:
出版当年[2016]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
JCR分区:
出版当年[2015]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[2015版] 出版当年五年平均 出版前一年[2014版] 出版后一年[2016版]

第一作者:
第一作者机构: [1]Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands [2]Erasmus MC, Dept Ophthalmol, Rotterdam, Netherlands
共同第一作者:
通讯作者:
通讯机构: [4]Royal Brisbane Hosp, QIMR Berghofer Med Res Inst, Stat Genet, Brisbane, Qld, Australia [*1]Royal Brisbane Hosp, QIMR Berghofer Med Res Inst, Stuart MacGregor Stat Genet, Brisbane, Qld, Australia
推荐引用方式(GB/T 7714):
APA:
MLA:

资源点击量:23459 今日访问量:6 总访问量:1282 更新日期:2025-04-01 建议使用谷歌、火狐浏览器 常见问题

版权所有©2020 首都医科大学附属北京同仁医院 技术支持:重庆聚合科技有限公司 地址:北京市东城区东交民巷1号(100730)