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Tytuł pozycji:

Macular retinal thickness differs markedly in age-related macular degeneration driven by risk polymorphisms on chromosomes 1 and 10.

Tytuł :
Macular retinal thickness differs markedly in age-related macular degeneration driven by risk polymorphisms on chromosomes 1 and 10.
Autorzy :
Zouache MA; Steele Center for Translational Medicine, John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, 84132, UT, USA. .
Bennion A; Steele Center for Translational Medicine, John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, 84132, UT, USA.
Hageman JL; Steele Center for Translational Medicine, John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, 84132, UT, USA.
Pappas C; Steele Center for Translational Medicine, John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, 84132, UT, USA.
Richards BT; Steele Center for Translational Medicine, John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, 84132, UT, USA.
Hageman GS; Steele Center for Translational Medicine, John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, 84132, UT, USA. .
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Źródło :
Scientific reports [Sci Rep] 2020 Dec 03; Vol. 10 (1), pp. 21093. Date of Electronic Publication: 2020 Dec 03.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Język :
English
Imprint Name(s) :
Original Publication: London : Nature Publishing Group, copyright 2011-
MeSH Terms :
Polymorphism, Single Nucleotide*
Chromosomes, Human, Pair 1/*genetics
Chromosomes, Human, Pair 10/*genetics
Macular Degeneration/*genetics
Retina/*diagnostic imaging
Aged ; Aged, 80 and over ; Complement Factor H/genetics ; Complement System Proteins/genetics ; Female ; High-Temperature Requirement A Serine Peptidase 1/genetics ; Humans ; Macular Degeneration/diagnostic imaging ; Male ; Middle Aged ; Proteins/genetics
References :
J Exp Med. 2007 Oct 1;204(10):2277-83. (PMID: 17893204)
Am J Ophthalmol. 2015 Mar;159(3):445-56.e1. (PMID: 25461295)
Cutan Ocul Toxicol. 2017 Dec;36(4):366-369. (PMID: 28277878)
Arch Ophthalmol. 2008 Feb;126(2):241-5. (PMID: 18268216)
Science. 2005 Apr 15;308(5720):421-4. (PMID: 15761121)
Invest Ophthalmol Vis Sci. 2012 Mar 01;53(3):1087-94. (PMID: 22247456)
Ophthalmology. 2014 Aug;121(8):1598-603. (PMID: 24661862)
Am J Ophthalmol. 2011 Dec;152(6):1030-1038.e2. (PMID: 21851922)
Am J Hum Genet. 2002 Feb;70(2):425-34. (PMID: 11791212)
Invest Ophthalmol Vis Sci. 2019 Apr 1;60(5):1581-1594. (PMID: 30995315)
Eur J Neurosci. 1989 Sep;1(5):407-420. (PMID: 12106128)
PLoS One. 2018 Dec 31;13(12):e0209276. (PMID: 30596689)
Nat Genet. 2006 Oct;38(10):1173-7. (PMID: 16998489)
Proc Natl Acad Sci U S A. 2005 May 17;102(20):7227-32. (PMID: 15870199)
Mol Immunol. 2007 Jul;44(13):3398-406. (PMID: 17399790)
Science. 2005 Apr 15;308(5720):385-9. (PMID: 15761122)
Am J Ophthalmol. 2019 Dec;208:166-177. (PMID: 31078539)
J Biol Chem. 2010 Sep 24;285(39):30192-202. (PMID: 20660596)
Am J Hum Genet. 2005 Jul;77(1):149-53. (PMID: 15895326)
Ophthalmology. 2017 Jan;124(1):105-117. (PMID: 27720551)
Ophthalmology. 2020 Feb;127(2):177-185. (PMID: 31668716)
Nat Genet. 2016 Feb;48(2):134-43. (PMID: 26691988)
Ophthalmology. 2018 Dec;125(12):1913-1928. (PMID: 30060980)
Invest Ophthalmol Vis Sci. 2012 Nov 09;53(12):7618-24. (PMID: 23074210)
PLoS One. 2012;7(5):e37638. (PMID: 22629435)
Invest Ophthalmol Vis Sci. 1986 Nov;27(11):1564-8. (PMID: 3771136)
Nat Genet. 2013 Apr;45(4):433-9, 439e1-2. (PMID: 23455636)
J Ophthalmol. 2019 Sep 29;2019:8079127. (PMID: 31662897)
Eye (Lond). 2019 Mar;33(3):428-434. (PMID: 30310161)
Ophthalmology. 2014 Jan;121(1):162-172. (PMID: 23993787)
Hum Mol Genet. 2009 Sep 15;18(18):3452-61. (PMID: 19549636)
Retina. 2017 Jan;37(1):47-52. (PMID: 27347643)
Hum Mol Genet. 2005 Nov 1;14(21):3227-36. (PMID: 16174643)
Adv Exp Med Biol. 2010;703:49-62. (PMID: 20711706)
Arch Ophthalmol. 2003 Apr;121(4):519-26. (PMID: 12695249)
Genetics. 2017 Feb;205(2):919-924. (PMID: 27879347)
Ophthalmology. 2000 Dec;107(12):2224-32. (PMID: 11097601)
Invest Ophthalmol Vis Sci. 2018 Mar 1;59(3):1599-1608. (PMID: 29625486)
Br J Ophthalmol. 2009 Nov;93(11):1448-52. (PMID: 19019921)
Arch Ophthalmol. 2007 Jan;125(1):55-62. (PMID: 17210852)
J Biol Chem. 2006 Aug 25;281(34):24713-20. (PMID: 16787919)
Am J Ophthalmol. 2009 Aug;148(2):266-71. (PMID: 19427616)
Arch Ophthalmol. 2004 Apr;122(4):564-72. (PMID: 15078675)
Invest Ophthalmol Vis Sci. 2015 Feb 10;56(3):1689-700. (PMID: 25670493)
Acta Ophthalmol. 2017 May;95(3):262-269. (PMID: 27989016)
Am J Ophthalmol. 2011 Feb;151(2):345-52.e3. (PMID: 21122828)
Sci Rep. 2016 Oct 25;6:35754. (PMID: 27779198)
Ophthalmology. 2013 Aug;120(8):1641-8. (PMID: 23582991)
Am J Pathol. 2005 Jan;166(1):241-51. (PMID: 15632016)
Nat Commun. 2020 Feb 7;11(1):778. (PMID: 32034129)
Am J Hum Genet. 2005 Sep;77(3):389-407. (PMID: 16080115)
Hum Mol Genet. 2019 Apr 1;28(7):1162-1172. (PMID: 30535121)
Eye (Lond). 2001 Jun;15(Pt 3):376-83. (PMID: 11450761)
J Comp Neurol. 1990 Feb 22;292(4):497-523. (PMID: 2324310)
Hum Hered. 2007;63(3-4):212-8. (PMID: 17347568)
Sci Rep. 2019 Apr 29;9(1):6611. (PMID: 31036867)
Invest Ophthalmol Vis Sci. 1996 Jun;37(7):1236-49. (PMID: 8641827)
Curr Eye Res. 2018 Mar;43(3):376-382. (PMID: 29135322)
Lancet Glob Health. 2014 Feb;2(2):e106-16. (PMID: 25104651)
Br J Ophthalmol. 2013 Oct;97(10):1256-61. (PMID: 23843264)
Ophthalmol Retina. 2018 Aug;2(8):808-815.e1. (PMID: 31047534)
Ophthalmology. 2013 Sep;120(9):1880-92. (PMID: 23523162)
Clin Exp Optom. 2019 Nov;102(6):601-610. (PMID: 30883919)
Ophthalmologica. 2017;238(1-2):6-16. (PMID: 28558370)
Surv Ophthalmol. 1995 Mar-Apr;39(5):367-74. (PMID: 7604360)
Scand J Thorac Cardiovasc Surg. 1991;25(1):7-12. (PMID: 1905836)
Optom Vis Sci. 2018 Aug;95(8):648-655. (PMID: 30063666)
Mol Immunol. 2018 Oct;102:42-57. (PMID: 29914697)
J Comp Neurol. 1990 Oct 1;300(1):5-25. (PMID: 2229487)
Physiol Rev. 2005 Jul;85(3):845-81. (PMID: 15987797)
Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4870-9. (PMID: 26218915)
PLoS One. 2015 May 11;10(5):e0126636. (PMID: 25962167)
Invest Ophthalmol Vis Sci. 2013 Mar 05;54(3):1603-12. (PMID: 23361506)
Grant Information :
R24 EY017404 United States EY NEI NIH HHS; R24EY017404 United States EY NEI NIH HHS
Substance Nomenclature :
0 (ARMS2 protein, human)
0 (CFHR5 protein, human)
0 (Proteins)
80295-65-4 (Complement Factor H)
9007-36-7 (Complement System Proteins)
EC 3.4.21.- (High-Temperature Requirement A Serine Peptidase 1)
EC 3.4.21.- (HtrA1 protein, human)
Entry Date(s) :
Date Created: 20201204 Date Completed: 20210317 Latest Revision: 20210523
Update Code :
20210523
PubMed Central ID :
PMC7713215
DOI :
10.1038/s41598-020-78059-x
PMID :
33273512
Czasopismo naukowe
The two most common genetic contributors to age-related macular degeneration (AMD), a leading cause of irreversible vision loss worldwide, are variants associated with CFH-CFHR5 on chromosome 1 (Chr1) and ARMS2/HTRA1 on chromosome 10 (Chr10). We sought to determine if risk and protective variants associated with these two loci drive differences in macular retinal thickness prior and subsequent to the onset of clinically observable signs of AMD. We considered 299 individuals (547 eyes) homozygous for risk variants or haplotypes on Chr1 or Chr10 exclusively (Chr1-risk and Chr10-risk, respectively) or homozygous for a neutral haplotype (Chr1-neu), for the protective I62 tagged haplotype (Chr1-prot-I62) or for the protection conferring CFHR1/3 deletion haplotype (Chr1-prot-del) on Chr1 without any risk alleles on Chr10. Among eyes with no clinically observable signs of AMD, the deletion of CFHR1/3, which is strongly protective against this disease, is associated with significantly thicker retinas in the perifovea. When controlling for age, Chr10-risk eyes with early or intermediate AMD have thinner retinas as compared to eyes from the Chr1-risk group with similar disease severity. Our analysis indicates that this difference likely results from distinct biological and disease initiation and progression events associated with Chr1- and Chr10-directed AMD.
Erratum in: Sci Rep. 2021 May 21;11(1):11164. (PMID: 34021232)
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