Literature DB >> 29125146

Genetics and genetic testing for age-related macular degeneration.

A Warwick1, A Lotery2.   

Abstract

Considerable advances have been made in our understanding of age-related macular degeneration (AMD) genetics over the past decade. The genetic associations discovered to date are estimated to account for approximately half of AMD heritability, and functional studies of these variants have revealed new insights into disease pathogenesis, leading to the development of potential novel therapies. There is furthermore growing interest in genetic testing for predicting an individual's risk of AMD and offering personalised preventive or therapeutic treatments. We review the progress made so far in AMD genetics and discuss the possible applications for genetic testing.

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Year:  2017        PMID: 29125146      PMCID: PMC5944647          DOI: 10.1038/eye.2017.245

Source DB:  PubMed          Journal:  Eye (Lond)        ISSN: 0950-222X            Impact factor:   3.775


  99 in total

1.  A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration.

Authors:  Hannes Helgason; Patrick Sulem; Maheswara R Duvvari; Hongrong Luo; Gudmar Thorleifsson; Hreinn Stefansson; Ingileif Jonsdottir; Gisli Masson; Daniel F Gudbjartsson; G Bragi Walters; Olafur Th Magnusson; Augustine Kong; Thorunn Rafnar; Lambertus A Kiemeney; Frederieke E Schoenmaker-Koller; Ling Zhao; Camiel J F Boon; Yaojun Song; Sascha Fauser; Michelle Pei; Tina Ristau; Shirrina Patel; Sandra Liakopoulos; Johannes P H van de Ven; Carel B Hoyng; Henry Ferreyra; Yaou Duan; Paul S Bernstein; Asbjorg Geirsdottir; Gudleif Helgadottir; Einar Stefansson; Anneke I den Hollander; Kang Zhang; Fridbert Jonasson; Haraldur Sigurdsson; Unnur Thorsteinsdottir; Kari Stefansson
Journal:  Nat Genet       Date:  2013-09-15       Impact factor: 38.330

2.  Evaluation of the ELOVL4 gene in patients with age-related macular degeneration.

Authors:  R Ayyagari; K Zhang; A Hutchinson; Z Yu; A Swaroop; L E Kakuk; J M Seddon; P S Bernstein; R A Lewis; J Tammur; Z Yang; Y Li; H Zhang; B M Yashar; J Liu; K Petrukhin; P A Sieving; R Allikmets
Journal:  Ophthalmic Genet       Date:  2001-12       Impact factor: 1.803

3.  Complement factor H variant increases the risk of age-related macular degeneration.

Authors:  Jonathan L Haines; Michael A Hauser; Silke Schmidt; William K Scott; Lana M Olson; Paul Gallins; Kylee L Spencer; Shu Ying Kwan; Maher Noureddine; John R Gilbert; Nathalie Schnetz-Boutaud; Anita Agarwal; Eric A Postel; Margaret A Pericak-Vance
Journal:  Science       Date:  2005-03-10       Impact factor: 47.728

4.  Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.

Authors:  Sarah Ennis; Catherine Jomary; Robert Mullins; Angela Cree; Xiaoli Chen; Alex Macleod; Stephen Jones; Andrew Collins; Edwin Stone; Andrew Lotery
Journal:  Lancet       Date:  2008-10-06       Impact factor: 79.321

5.  Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.

Authors:  Rinki Ratnapriya; Xiaowei Zhan; Robert N Fariss; Kari E Branham; David Zipprer; Christina F Chakarova; Yuri V Sergeev; Maria M Campos; Mohammad Othman; James S Friedman; Arvydas Maminishkis; Naushin H Waseem; Matthew Brooks; Harsha K Rajasimha; Albert O Edwards; Andrew Lotery; Barbara E Klein; Barbara J Truitt; Bingshan Li; Debra A Schaumberg; Denise J Morgan; Margaux A Morrison; Eric Souied; Evangelia E Tsironi; Felix Grassmann; Gerald A Fishman; Giuliana Silvestri; Hendrik P N Scholl; Ivana K Kim; Jacqueline Ramke; Jingsheng Tuo; Joanna E Merriam; John C Merriam; Kyu Hyung Park; Lana M Olson; Lindsay A Farrer; Matthew P Johnson; Neal S Peachey; Mark Lathrop; Robert V Baron; Robert P Igo; Ronald Klein; Stephanie A Hagstrom; Yoichiro Kamatani; Tammy M Martin; Yingda Jiang; Yvette Conley; Jose-Alan Sahel; Donald J Zack; Chi-Chao Chan; Margaret A Pericak-Vance; Samuel G Jacobson; Michael B Gorin; Michael L Klein; Rando Allikmets; Sudha K Iyengar; Bernhard H Weber; Jonathan L Haines; Thierry Léveillard; Margaret M Deangelis; Dwight Stambolian; Daniel E Weeks; Shomi S Bhattacharya; Emily Y Chew; John R Heckenlively; Gonçalo R Abecasis; Anand Swaroop
Journal:  Hum Mol Genet       Date:  2014-06-04       Impact factor: 6.150

6.  Lutein + zeaxanthin and omega-3 fatty acids for age-related macular degeneration: the Age-Related Eye Disease Study 2 (AREDS2) randomized clinical trial.

Authors: 
Journal:  JAMA       Date:  2013-05-15       Impact factor: 56.272

7.  Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.

Authors:  Yi Yu; Michael P Triebwasser; Edwin K S Wong; Elizabeth C Schramm; Brett Thomas; Robyn Reynolds; Elaine R Mardis; John P Atkinson; Mark Daly; Soumya Raychaudhuri; David Kavanagh; Johanna M Seddon
Journal:  Hum Mol Genet       Date:  2014-05-20       Impact factor: 6.150

8.  Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.

Authors:  Yi Yu; Tushar R Bhangale; Jesen Fagerness; Stephan Ripke; Gudmar Thorleifsson; Perciliz L Tan; Eric H Souied; Andrea J Richardson; Joanna E Merriam; Gabriëlle H S Buitendijk; Robyn Reynolds; Soumya Raychaudhuri; Kimberly A Chin; Lucia Sobrin; Evangelos Evangelou; Phil H Lee; Aaron Y Lee; Nicolas Leveziel; Donald J Zack; Betsy Campochiaro; Peter Campochiaro; R Theodore Smith; Gaetano R Barile; Robyn H Guymer; Ruth Hogg; Usha Chakravarthy; Luba D Robman; Omar Gustafsson; Haraldur Sigurdsson; Ward Ortmann; Timothy W Behrens; Kari Stefansson; André G Uitterlinden; Cornelia M van Duijn; Johannes R Vingerling; Caroline C W Klaver; Rando Allikmets; Milam A Brantley; Paul N Baird; Nicholas Katsanis; Unnur Thorsteinsdottir; John P A Ioannidis; Mark J Daly; Robert R Graham; Johanna M Seddon
Journal:  Hum Mol Genet       Date:  2011-06-10       Impact factor: 6.150

Review 9.  The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.

Authors:  Maartje J Geerlings; Eiko K de Jong; Anneke I den Hollander
Journal:  Mol Immunol       Date:  2016-12-06       Impact factor: 4.407

10.  Pharmacogenetics of Complement Factor H Y402H Polymorphism and Treatment of Neovascular AMD with Anti-VEGF Agents: A Meta-Analysis.

Authors:  Guohai Chen; Radouil Tzekov; Wensheng Li; Fangzheng Jiang; Sihong Mao; Yuhua Tong
Journal:  Sci Rep       Date:  2015-09-28       Impact factor: 4.379

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  15 in total

1.  Age-related Macular Degeneration: Nutrition, Genes and Deep Learning-The LXXVI Edward Jackson Memorial Lecture.

Authors:  Emily Y Chew
Journal:  Am J Ophthalmol       Date:  2020-06-20       Impact factor: 5.258

Review 2.  Sorsby fundus dystrophy: Insights from the past and looking to the future.

Authors:  Bela Anand-Apte; Jennifer R Chao; Ruchira Singh; Heidi Stöhr
Journal:  J Neurosci Res       Date:  2018-08-21       Impact factor: 4.164

3.  BETA-PERIPAPILLARY ATROPHY AND GEOGRAPHIC ATROPHY IN THE COMPARISON OF AGE-RELATED MACULAR DEGENERATION TREATMENTS TRIALS.

Authors:  Anton M Kolomeyer; Eli Smith; Ebenezer Daniel; Gui-Shuang Ying; Wei Pan; Max Pistilli; Juan Grunwald; Maureen G Maguire; Benjamin J Kim
Journal:  Retina       Date:  2021-01-01       Impact factor: 3.975

4.  Identification of genes required for eye development by high-throughput screening of mouse knockouts.

Authors:  Bret A Moore; Brian C Leonard; Lionel Sebbag; Sydney G Edwards; Ann Cooper; Denise M Imai; Ewan Straiton; Luis Santos; Christopher Reilly; Stephen M Griffey; Lynette Bower; David Clary; Jeremy Mason; Michel J Roux; Hamid Meziane; Yann Herault; Colin McKerlie; Ann M Flenniken; Lauryl M J Nutter; Zorana Berberovic; Celeste Owen; Susan Newbigging; Hibret Adissu; Mohammed Eskandarian; Chih-Wei Hsu; Sowmya Kalaga; Uchechukwu Udensi; Chinwe Asomugha; Ritu Bohat; Juan J Gallegos; John R Seavitt; Jason D Heaney; Arthur L Beaudet; Mary E Dickinson; Monica J Justice; Vivek Philip; Vivek Kumar; Karen L Svenson; Robert E Braun; Sara Wells; Heather Cater; Michelle Stewart; Sharon Clementson-Mobbs; Russell Joynson; Xiang Gao; Tomohiro Suzuki; Shigeharu Wakana; Damian Smedley; J K Seong; Glauco Tocchini-Valentini; Mark Moore; Colin Fletcher; Natasha Karp; Ramiro Ramirez-Solis; Jacqueline K White; Martin Hrabe de Angelis; Wolfgang Wurst; Sara M Thomasy; Paul Flicek; Helen Parkinson; Steve D M Brown; Terrence F Meehan; Patsy M Nishina; Stephen A Murray; Mark P Krebs; Ann-Marie Mallon; K C Kent Lloyd; Christopher J Murphy; Ala Moshiri
Journal:  Commun Biol       Date:  2018-12-21

5.  Foveal macular pigment dip in offspring of age-related macular degeneration patients is inversely associated with omega-3 index.

Authors:  Grant A Rutledge; Steven G Pratt; Stuart P Richer; Byki Huntjens; C Blake Perry; Gunilla Pratt; Carla Podella
Journal:  BMC Ophthalmol       Date:  2020-12-02       Impact factor: 2.209

6.  Risk Stratification and Clinical Utility of Polygenic Risk Scores in Ophthalmology.

Authors:  Ayub Qassim; Emmanuelle Souzeau; Georgie Hollitt; Mark M Hassall; Owen M Siggs; Jamie E Craig
Journal:  Transl Vis Sci Technol       Date:  2021-05-03       Impact factor: 3.283

Review 7.  Leveraging Zebrafish to Study Retinal Degenerations.

Authors:  Juan M Angueyra; Katie S Kindt
Journal:  Front Cell Dev Biol       Date:  2018-09-19

Review 8.  Introduction to the multi-author review on macular degeneration.

Authors:  Anu Kauppinen
Journal:  Cell Mol Life Sci       Date:  2020-01-02       Impact factor: 9.261

Review 9.  Epigenetics in age-related macular degeneration: new discoveries and future perspectives.

Authors:  M Gemenetzi; A J Lotery
Journal:  Cell Mol Life Sci       Date:  2020-01-02       Impact factor: 9.261

10.  Bone Marrow-Derived Mononuclear Cell Transplants Decrease Retinal Gliosis in Two Animal Models of Inherited Photoreceptor Degeneration.

Authors:  Johnny Di Pierdomenico; Diego García-Ayuso; María Elena Rodríguez González-Herrero; David García-Bernal; Miguel Blanquer; José Manuel Bernal-Garro; Ana M García-Hernández; Manuel Vidal-Sanz; María P Villegas-Pérez
Journal:  Int J Mol Sci       Date:  2020-09-30       Impact factor: 5.923

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