Literature DB >> 25034031

Genetic variants in the complement system predisposing to age-related macular degeneration: a review.

Elizabeth C Schramm1, Simon J Clark2, Michael P Triebwasser1, Soumya Raychaudhuri3,4,5,6, Johanna Seddon7,8, John P Atkinson1.   

Abstract

Age-related macular degeneration (AMD) is a major cause of visual impairment in the western world. It is characterized by the presence of lipoproteinaceous deposits (drusen) in the inner layers of the retina. Immunohistochemistry studies identified deposition of complement proteins in the drusen as well as in the choroid. In the last decade, genetic studies have linked both common and rare variants in genes of the complement system to increased risk of development of AMD. Here, we review the variants described to date and discuss the functional implications of dysregulation of the alternative pathway of complement in AMD.
Copyright © 2014 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Age-related macular degeneration; Alternative pathway; Complement system; Genetic variants

Mesh：

Substances：

Year:  2014        PMID： 25034031      PMCID： PMC4149817          DOI： 10.1016/j.molimm.2014.06.032

Source DB:  PubMed          Journal:  Mol Immunol        ISSN： 0161-5890            Impact factor:   4.407


  67 in total

1.  Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent.

Authors:  Soumya Raychaudhuri; Stephan Ripke; Mingyao Li; Benjamin M Neale; Jesen Fagerness; Robyn Reynolds; Lucia Sobrin; Anand Swaroop; Gonçalo Abecasis; Johanna M Seddon; Mark J Daly
Journal:  Nat Genet       Date:  2010-07       Impact factor: 38.330

2.  Variation near complement factor I is associated with risk of advanced AMD.

Authors:  Jesen A Fagerness; Julian B Maller; Benjamin M Neale; Robyn C Reynolds; Mark J Daly; Johanna M Seddon
Journal:  Eur J Hum Genet       Date:  2008-08-06       Impact factor: 4.246

3.  Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.

Authors:  Julian Maller; Sarah George; Shaun Purcell; Jes Fagerness; David Altshuler; Mark J Daly; Johanna M Seddon
Journal:  Nat Genet       Date:  2006-08-27       Impact factor: 38.330

Review 4.  Complement factor H and age-related macular degeneration: the role of glycosaminoglycan recognition in disease pathology.

Authors:  Simon J Clark; Paul N Bishop; Anthony J Day
Journal:  Biochem Soc Trans       Date:  2010-10       Impact factor: 5.407

5.  Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.

Authors:  Elena Goicoechea de Jorge; Claire L Harris; Jorge Esparza-Gordillo; Luis Carreras; Elena Aller Arranz; Cynthia Abarrategui Garrido; Margarita López-Trascasa; Pilar Sánchez-Corral; B Paul Morgan; Santiago Rodríguez de Córdoba
Journal:  Proc Natl Acad Sci U S A       Date:  2006-12-20       Impact factor: 11.205

6.  Impaired binding of the age-related macular degeneration-associated complement factor H 402H allotype to Bruch's membrane in human retina.

Authors:  Simon J Clark; Rahat Perveen; Svetlana Hakobyan; B Paul Morgan; Robert B Sim; Paul N Bishop; Anthony J Day
Journal:  J Biol Chem       Date:  2010-07-26       Impact factor: 5.157

7.  Dimerization of complement factor H-related proteins modulates complement activation in vivo.

Authors:  Elena Goicoechea de Jorge; Joseph J E Caesar; Talat H Malik; Mitali Patel; Matthew Colledge; Steven Johnson; Svetlana Hakobyan; B Paul Morgan; Claire L Harris; Matthew C Pickering; Susan M Lea
Journal:  Proc Natl Acad Sci U S A       Date:  2013-03-04       Impact factor: 11.205

8.  Complement C3 variant and the risk of age-related macular degeneration.

Authors:  John R W Yates; Tiina Sepp; Baljinder K Matharu; Jane C Khan; Deborah A Thurlby; Humma Shahid; David G Clayton; Caroline Hayward; Joanne Morgan; Alan F Wright; Ana Maria Armbrecht; Baljean Dhillon; Ian J Deary; Elizabeth Redmond; Alan C Bird; Anthony T Moore
Journal:  N Engl J Med       Date:  2007-07-18       Impact factor: 91.245

9.  Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype.

Authors:  Reecha Sofat; Juan P Casas; Andrew R Webster; Alan C Bird; Samantha S Mann; John R W Yates; Anthony T Moore; Tiina Sepp; Valentina Cipriani; Catey Bunce; Jane C Khan; Humma Shahid; Anand Swaroop; Gonçalo Abecasis; Kari E H Branham; Sepideh Zareparsi; Arthur A Bergen; Caroline C W Klaver; Dominique C Baas; Kang Zhang; Yuhong Chen; Daniel Gibbs; Bernhard H F Weber; Claudia N Keilhauer; Lars G Fritsche; Andrew Lotery; Angela J Cree; Helen L Griffiths; Shomi S Bhattacharya; Li L Chen; Sharon A Jenkins; Tunde Peto; Mark Lathrop; Thierry Leveillard; Michael B Gorin; Daniel E Weeks; Maria Carolina Ortube; Robert E Ferrell; Johanna Jakobsdottir; Yvette P Conley; Mati Rahu; Johan H Seland; Gisele Soubrane; Fotis Topouzis; Jesus Vioque; Laura Tomazzoli; Ian Young; John Whittaker; Usha Chakravarthy; Paulus T V M de Jong; Liam Smeeth; Astrid Fletcher; Aroon D Hingorani
Journal:  Int J Epidemiol       Date:  2012-01-13       Impact factor: 7.196

10.  Structure of complement fragment C3b-factor H and implications for host protection by complement regulators.

Authors:  Jin Wu; You-Qiang Wu; Daniel Ricklin; Bert J C Janssen; John D Lambris; Piet Gros
Journal:  Nat Immunol       Date:  2009-06-07       Impact factor: 25.606
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  57 in total

1.  Adherence to a Mediterranean diet, genetic susceptibility, and progression to advanced macular degeneration: a prospective cohort study.

Authors:  Bénédicte M J Merle; Rachel E Silver; Bernard Rosner; Johanna M Seddon
Journal:  Am J Clin Nutr       Date:  2015-10-21       Impact factor: 7.045

Review 2.  Complement and the Kidney: An Overview.

Authors:  Joshua M Thurman
Journal:  Adv Chronic Kidney Dis       Date:  2020-03       Impact factor: 3.620

Review 3.  From orphan drugs to adopted therapies: Advancing C3-targeted intervention to the clinical stage.

Authors:  Dimitrios C Mastellos; Edimara S Reis; Despina Yancopoulou; George Hajishengallis; Daniel Ricklin; John D Lambris
Journal:  Immunobiology       Date:  2016-06-16       Impact factor: 3.144

Review 4.  Clinical promise of next-generation complement therapeutics.

Authors:  Dimitrios C Mastellos; Daniel Ricklin; John D Lambris
Journal:  Nat Rev Drug Discov       Date:  2019-07-19       Impact factor: 84.694

5.  Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.

Authors:  R Cascella; C Strafella; G Longo; L Manzo; M Ragazzo; C De Felici; S Gambardella; L T Marsella; G Novelli; P Borgiani; F Sangiuolo; A Cusumano; F Ricci; E Giardina
Journal:  Eye (Lond)       Date:  2017-09-15       Impact factor: 3.775

6.  Contribution of Adipose-Derived Factor D/Adipsin to Complement Alternative Pathway Activation: Lessons from Lipodystrophy.

Authors:  Xiaobo Wu; Irina Hutson; Antonina M Akk; Smita Mascharak; Christine T N Pham; Dennis E Hourcade; Rebecca Brown; John P Atkinson; Charles A Harris
Journal:  J Immunol       Date:  2018-03-12       Impact factor: 5.422

Review 7.  Investigational Agents in Development for the Treatment of Geographic Atrophy Secondary to Age-Related Macular Degeneration.

Authors:  Hannah J Yu; Charles C Wykoff
Journal:  BioDrugs       Date:  2021-04-24       Impact factor: 5.807

8.  The relationship of circulating proteins in early pregnancy with preterm birth.

Authors:  Anne M Lynch; Brandie D Wagner; Robin R Deterding; Patricia C Giclas; Ronald S Gibbs; Edward N Janoff; V Michael Holers; Nanette F Santoro
Journal:  Am J Obstet Gynecol       Date:  2015-11-11       Impact factor: 8.661

Review 9.  Complement therapeutics in inflammatory diseases: promising drug candidates for C3-targeted intervention.

Authors:  D C Mastellos; D Ricklin; E Hajishengallis; G Hajishengallis; J D Lambris
Journal:  Mol Oral Microbiol       Date:  2015-10-07       Impact factor: 3.563

10.  Increased choroidal mast cells and their degranulation in age-related macular degeneration.

Authors:  Imran A Bhutto; D Scott McLeod; Tian Jing; Janet S Sunness; Johanna M Seddon; Gerard A Lutty
Journal:  Br J Ophthalmol       Date:  2016-03-01       Impact factor: 4.638
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