Literature DB >> 21609220

Genetics of age-related macular degeneration: current concepts, future directions.

Margaret M Deangelis1, Alexandra C Silveira, Elizabeth A Carr, Ivana K Kim.   

Abstract

Age-related macular degeneration (AMD) is a progressive degenerative disease which leads to blindness, affecting the quality of life of millions of Americans. More than 1.75 million individuals in the United States are affected by the advanced form of AMD. The etiological pathway of AMD is not yet fully understood, but there is a clear genetic influence on disease risk. To date, the 1q32 (CFH) and 10q26 (PLEKHA1/ARMS2/HTRA1) loci are the most strongly associated with disease; however, the variation in these genomic regions alone is unable to predict disease development with high accuracy. Therefore, current genetic studies are aimed at identifying new genes associated with AMD and their modifiers, with the goal of discovering diagnostic or prognostic biomarkers. Moreover, these studies provide the foundation for further investigation into the pathophysiology of AMD by utilizing a systems-biology-based approach to elucidate underlying mechanistic pathways.

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Year:  2011        PMID: 21609220      PMCID: PMC4242505          DOI: 10.3109/08820538.2011.577129

Source DB:  PubMed          Journal:  Semin Ophthalmol        ISSN: 0882-0538            Impact factor:   1.975


  229 in total

1.  Dissection of genomewide-scan data in extended families reveals a major locus and oligogenic susceptibility for age-related macular degeneration.

Authors:  Sudha K Iyengar; Danhong Song; Barbara E K Klein; Ronald Klein; James H Schick; Jennifer Humphrey; Christopher Millard; Rachel Liptak; Karlie Russo; Gyungah Jun; Kristine E Lee; Bonnie Fijal; Robert C Elston
Journal:  Am J Hum Genet       Date:  2003-12-19       Impact factor: 11.025

2.  Visible light and risk of age-related macular degeneration.

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Journal:  Trans Am Ophthalmol Soc       Date:  1990

Review 3.  The genetics of adult-onset neuropsychiatric disease: complexities and conundra?

Authors:  James L Kennedy; Lindsay A Farrer; Nancy C Andreasen; Richard Mayeux; Peter St George-Hyslop
Journal:  Science       Date:  2003-10-31       Impact factor: 47.728

4.  Tissue inhibitor of matrix metalloproteinase-3 levels in the extracellular matrix of lung, kidney, and eye increase with age.

Authors:  Anne M Macgregor; Charles G Eberhart; Mostafa Fraig; Jie Lu; Marc K Halushka
Journal:  J Histochem Cytochem       Date:  2008-10-27       Impact factor: 2.479

Review 5.  Human genetic variation and its contribution to complex traits.

Authors:  Kelly A Frazer; Sarah S Murray; Nicholas J Schork; Eric J Topol
Journal:  Nat Rev Genet       Date:  2009-04       Impact factor: 53.242

6.  Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family.

Authors:  Dennis W Schultz; Michael L Klein; Andrea J Humpert; Christina W Luzier; Vesna Persun; Mitchell Schain; Alison Mahan; Charles Runckel; Maria Cassera; Vasavi Vittal; Trudy M Doyle; Tammy M Martin; Richard G Weleber; Peter J Francis; Ted S Acott
Journal:  Hum Mol Genet       Date:  2003-10-21       Impact factor: 6.150

7.  Senile macular degeneration: a case-control study.

Authors:  L G Hyman; A M Lilienfeld; F L Ferris; S L Fine
Journal:  Am J Epidemiol       Date:  1983-08       Impact factor: 4.897

8.  Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26.

Authors:  Shannon J Kenealy; Silke Schmidt; Anita Agarwal; Eric A Postel; Monica A De La Paz; Margaret A Pericak-Vance; Jonathan L Haines
Journal:  Mol Vis       Date:  2004-01-26       Impact factor: 2.367

9.  Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.

Authors:  P St George-Hyslop; J Haines; E Rogaev; M Mortilla; G Vaula; M Pericak-Vance; J F Foncin; M Montesi; A Bruni; S Sorbi; I Rainero; L Pinessi; D Pollen; R Polinsky; L Nee; J Kennedy; F Macciardi; E Rogaeva; Y Liang; N Alexandrova; W Lukiw; K Schlumpf; R Tanzi; T Tsuda; L Farrer; J M Cantu; R Duara; L Amaducci; L Bergamini; J Gusella; A Roses; D Crapper McLachlan
Journal:  Nat Genet       Date:  1992-12       Impact factor: 38.330

10.  Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables.

Authors:  Johanna M Seddon; Robyn Reynolds; Julian Maller; Jesen A Fagerness; Mark J Daly; Bernard Rosner
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-12-30       Impact factor: 4.799

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  40 in total

Review 1.  Regulation of complement factor H (CFH) by multiple miRNAs in Alzheimer's disease (AD) brain.

Authors:  Walter J Lukiw; Peter N Alexandrov
Journal:  Mol Neurobiol       Date:  2012-08       Impact factor: 5.590

Review 2.  Differential Gene Expression in Age-Related Macular Degeneration.

Authors:  Denise J Morgan; Margaret M DeAngelis
Journal:  Cold Spring Harb Perspect Med       Date:  2014-10-23       Impact factor: 6.915

Review 3.  Functional optical coherence tomography of retinal photoreceptors.

Authors:  Xincheng Yao; Taeyoon Son; Tae-Hoon Kim; Yiming Lu
Journal:  Exp Biol Med (Maywood)       Date:  2018-11-27

4.  Short- and mid-term repeatability of macular pigment optical density measurements using spectral fundus reflectance.

Authors:  Nikolaus Dragostinoff; René Marcel Werkmeister; Semira Kaya; Günther Weigert; Berthold Pemp; Stefan Sacu; Gerhard Garhöfer; Ursula Schmidt-Erfurth; Leopold Schmetterer
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2012-02-25       Impact factor: 3.117

Review 5.  Genome-wide association studies: getting to pathogenesis, the role of inflammation/complement in age-related macular degeneration.

Authors:  Jessica N Cooke Bailey; Margaret A Pericak-Vance; Jonathan L Haines
Journal:  Cold Spring Harb Perspect Med       Date:  2014-09-11       Impact factor: 6.915

6.  Lens status influences the association between CFH polymorphisms and age-related macular degeneration: findings from two population-based studies in Singapore.

Authors:  Chee Wai Wong; Jiemin Liao; Gemmy C Cheung; Chiea Chuen Khor; Eranga N Vithana; Jie Jin Wang; Paul Mitchell; Tin Aung; Tien Y Wong; Ching-Yu Cheng
Journal:  PLoS One       Date:  2015-03-18       Impact factor: 3.240

7.  Genetic Epidemiologic Analysis of Hypertensive Retinopathy in an Underrepresented and Rare Federally Recognized Native American Population of the Intermountain West.

Authors:  Patrice M Hicks; Samuel A Collazo Melendez; Albert Vitale; William Self; Mary Elizabeth Hartnett; Paul Bernstein; Denise J Morgan; Michael Feehan; Akbar Shakoor; Ivana Kim; Leah A Owen; Margaret M DeAngelis
Journal:  J Community Med Public Health       Date:  2019-06-10

8.  FLT1 genetic variation predisposes to neovascular AMD in ethnically diverse populations and alters systemic FLT1 expression.

Authors:  Leah A Owen; Margaux A Morrison; Jeeyun Ahn; Se Joon Woo; Hajime Sato; Rosann Robinson; Denise J Morgan; Fani Zacharaki; Marina Simeonova; Hironori Uehara; Usha Chakravarthy; Ruth E Hogg; Balamurali K Ambati; Maria Kotoula; Wolfgang Baehr; Neena B Haider; Giuliana Silvestri; Joan W Miller; Evangelia E Tsironi; Lindsay A Farrer; Ivana K Kim; Kyu Hyung Park; Margaret M DeAngelis
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-05-08       Impact factor: 4.799

9.  Incidence of choroidal neovascularization in the fellow eye in the comparison of age-related macular degeneration treatments trials.

Authors:  Maureen G Maguire; Ebenezer Daniel; Ankoor R Shah; Juan E Grunwald; Stephanie A Hagstrom; Robert L Avery; Jiayan Huang; Revell W Martin; Daniel B Roth; Alessandro A Castellarin; Sophie J Bakri; Stuart L Fine; Daniel F Martin
Journal:  Ophthalmology       Date:  2013-05-22       Impact factor: 12.079

10.  Pharmacogenetics for genes associated with age-related macular degeneration in the Comparison of AMD Treatments Trials (CATT).

Authors:  Stephanie A Hagstrom; Gui-Shuang Ying; Gayle J T Pauer; Gwen M Sturgill-Short; Jiayan Huang; David G Callanan; Ivana K Kim; Michael L Klein; Maureen G Maguire; Daniel F Martin
Journal:  Ophthalmology       Date:  2013-01-18       Impact factor: 12.079

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