دورية أكاديمية
أعرض في EDS

ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma.

التفاصيل البيبلوغرافية
العنوان: ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma.
المؤلفون: Praveen K; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Patel GC; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Gurski L; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Ayer AH; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Persaud T; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Still MD; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Miloscio L; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Van Zyl T; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Di Gioia SA; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Brumpton B; K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, 7030, Trondheim, Norway.; HUNT Research Center, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, 7600, Levanger, Norway.; Clinic of Medicine, St. Olavs Hospital Trondheim University Hospital, 7030, Trondheim, Norway., Krebs K; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia., Åsvold BO; K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, 7030, Trondheim, Norway.; HUNT Research Center, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, 7600, Levanger, Norway.; Department of Endocrinology, Clinic of Medicine, St. Olavs Hospital, Trondheim University Hospital, 7030, Trondheim, Norway., Chen E; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Chavali VRM; Department of Ophthalmology, Pearlman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Fury W; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Gudiseva HV; Department of Ophthalmology, Pearlman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Hyde S; Alnylam Pharmaceuticals, Inc, Cambridge, MA, 02142, USA., Jorgenson E; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Lefebvre S; Alnylam Pharmaceuticals, Inc, Cambridge, MA, 02142, USA., Li D; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Li A; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Mclninch J; Alnylam Pharmaceuticals, Inc, Cambridge, MA, 02142, USA., Patel B; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Rabinowitz JS; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Salowe R; Department of Ophthalmology, Pearlman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Schurmann C; Bayer AG, Pharmaceuticals, Research and Development, 13342, Berlin, Germany., Seidelin AS; Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Stahl E; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Sun D; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Teslovich TM; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Tybjærg-Hansen A; Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Willer C; Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Waldron S; Alnylam Pharmaceuticals, Inc, Cambridge, MA, 02142, USA., Walley S; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Yang H; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Zaveri S; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Hu Y; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Hveem K; K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, 7030, Trondheim, Norway.; HUNT Research Center, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, 7600, Levanger, Norway., Melander O; Lund University, Department of Clinical Sciences Malmö, Malmö, Sweden.; Skåne University Hospital, Department of Emergency and Internal Medicine, Malmö, Sweden., Milani L; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia., Stender S; Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., O'Brien JM; Department of Ophthalmology, Pearlman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Jones MB; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Abecasis GR; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Cantor MN; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Weyne J; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Karalis K; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Economides A; Regeneron Genetics Center, Tarrytown, NY, 10591, USA.; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Della Gatta G; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Ferreira MA; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Yancopoulos GD; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Baras A; Regeneron Genetics Center, Tarrytown, NY, 10591, USA. aris.baras@regeneron.com., Romano C; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA. carl.romano@regeneron.com., Coppola G; Regeneron Genetics Center, Tarrytown, NY, 10591, USA. giovanni.coppola@regeneron.com.
مؤلفون مشاركون: Regeneron Genetics Center, GHS-RGC DiscovEHR Collaboration, Estonian Biobank Research Team
المصدر: Communications biology [Commun Biol] 2022 Oct 03; Vol. 5 (1), pp. 1051. Date of Electronic Publication: 2022 Oct 03.
نوع المنشور: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Nature Publishing Group UK Country of Publication: England NLM ID: 101719179 Publication Model: Electronic Cited Medium: Internet ISSN: 2399-3642 (Electronic) Linking ISSN: 23993642 NLM ISO Abbreviation: Commun Biol Subsets: MEDLINE
أسماء مطبوعة: Original Publication: London, United Kingdom : Nature Publishing Group UK, [2018]-
مواضيع طبية MeSH: Glaucoma*/drug therapy , Glaucoma*/genetics , Intraocular Pressure*, Adult ; Angiopoietin-Like Protein 7 ; Angiopoietin-like Proteins/genetics ; Animals ; Blindness ; Humans ; Mice ; Mice, Knockout
مستخلص: Glaucoma is a leading cause of blindness. Current glaucoma medications work by lowering intraocular pressure (IOP), a risk factor for glaucoma, but most treatments do not directly target the pathological changes leading to increased IOP, which can manifest as medication resistance as disease progresses. To identify physiological modulators of IOP, we performed genome- and exome-wide association analysis in >129,000 individuals with IOP measurements and extended these findings to an analysis of glaucoma risk. We report the identification and functional characterization of rare coding variants (including loss-of-function variants) in ANGPTL7 associated with reduction in IOP and glaucoma protection. We validated the human genetics findings in mice by establishing that Angptl7 knockout mice have lower (~2 mmHg) basal IOP compared to wild-type, with a trend towards lower IOP also in heterozygotes. Conversely, increasing murine Angptl7 levels via injection into mouse eyes increases the IOP. We also show that acute Angptl7 silencing in adult mice lowers the IOP (~2-4 mmHg), reproducing the observations in knockout mice. Collectively, our data suggest that ANGPTL7 is important for IOP homeostasis and is amenable to therapeutic modulation to help maintain a healthy IOP that can prevent onset or slow the progression of glaucoma.
(© 2022. The Author(s).)
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معلومات مُعتمدة: MC_PC_17228 United Kingdom MRC_ Medical Research Council; R21 EY028273 United States EY NEI NIH HHS; P30 EY001583 United States EY NEI NIH HHS; R01 EY023557 United States EY NEI NIH HHS; MC_QA137853 United Kingdom MRC_ Medical Research Council
فهرسة مساهمة: Investigator: GR Abecasis; M Cantor; A Deubler; A Economides; LA Lotta; JD Overton; JG Reid; A Shuldiner; K Siminovitch; C Beechert; C Forsythe; ED Fuller; Z Gu; M Lattari; A Lopez; TD Schleicher; MS Padilla; L Widom; SE Wolf; M Pradhan; K Manoochehri; RH Ulloa; X Bai; S Balasubramanian; S Bao; B Boutkov; S Chen; G Eom; L Habegger; A Hawes; S Khalid; O Krasheninina; R Lanche; AJ Mansfield; EK Maxwell; M Nafde; S O'Keeffe; M Orelus; R Panea; T Polanco; A Rasool; W Salerno; K Sun; A Averitt; N Banerjee; S Malhotra; D Sharma; JC Staples; A Yadav; J Backman; A Damask; L Dobbyn; MAR Ferreira; A Ghosh; C Gillies; HM Kang; M Kessler; J Kosmicki; N Lin; D Liu; A Locke; J Marchini; A Marcketta; J Mbatchou; A Moscati; C Paulding; C Sidore; K Watanabe; Bin Ye; B Zhang; A Ziyatdinov; MG LeBlanc; J Mighty; LJ Mitnaul; N Nishtala; N Rana; LJ Adams; J Blank; D Bodian; D Boris; A Buchanan; DJ Carey; RD Colonie; FD Davis; DN Hartzel; M Kelly; HL Kirchner; JB Leader; DH Ledbetter; JN Manus; CL Martin; RP Metpally; M Meyer; T Mirshahi; M Oetjens; TN Person; C Still; N Strande; A Sturm; J Wagner; M Williams; A Metspalu; M Nelis; R Mägi; T Esko
المشرفين على المادة: 0 (ANGPTL7 protein, human)
0 (ANGPTL7 protein, mouse)
0 (Angiopoietin-Like Protein 7)
0 (Angiopoietin-like Proteins)
تواريخ الأحداث: Date Created: 20221003 Date Completed: 20221005 Latest Revision: 20230524
رمز التحديث: 20230524
مُعرف محوري في PubMed: PMC9529959
DOI: 10.1038/s42003-022-03932-6
PMID: 36192519
قاعدة البيانات: MEDLINE
الوصف
تدمد:2399-3642
DOI:10.1038/s42003-022-03932-6