Literature DB >> 20381870

Progression of geographic atrophy and genotype in age-related macular degeneration.

Michael L Klein1, Frederick L Ferris, Peter J Francis, Anne S Lindblad, Emily Y Chew, Sara C Hamon, Jurg Ott.   

Abstract

PURPOSE: We sought to determine whether genotype is associated with rate of growth of geographic atrophy (GA) in eyes with age-related macular degeneration (AMD).
DESIGN: Prospective analysis of participants in a randomized controlled clinical trial. PARTICIPANTS: We included 114 eyes of 114 participants in the Age-Related Eye Disease Study (AREDS).
METHODS: Fundus photographs from AREDS participants with GA from whom a DNA specimen had been obtained and serial photographs had been taken over a minimum of 2 years were evaluated for progression as determined by change in cumulative area of GA. All fundus photographs were scanned, digitized, and centrally graded longitudinally for area of GA. The relationship of GA progression with previously identified genetic variants associated with AMD was assessed. MAIN OUTCOME MEASURES: Genotype frequencies and change in cumulative area of GA.
RESULTS: The mean growth rate of GA for the 114 eyes was 1.79 mm(2)/year (range, 0.17-4.76). No association between growth rate and genotype was present for variants in the CFH, C2, C3, APOE, and TLR3 genes. For the single nucleotide polymorphism rs10490924 in LOC387715/ARMS2, there was a significant association of GA growth rate, both adjusted and unadjusted for initial lesion size, with the homozygous risk genotype as compared with the homozygous nonrisk genotype (unadjusted P = 0.002; Bonferroni-corrected P = 0.014) and for allelic association (Bonferroni-corrected P value = 0.011). Analyses of other measures of GA progression (progression to central GA from extrafoveal GA and development of bilateral GA in those initially with unilateral GA) showed no statistically significant association between progression and the LOC387715/ARMS2/HTRA1 genotype.
CONCLUSIONS: Growth rates of GA calculated from digitized serial fundus photographs showed no association with variants in the CFH, C2, C3, APOE, or TLR3 genes. There was a nominally significant association with the LOC387715/ARMS2/HTRA1 genotype, although this finding was not supported by analyses of secondary measures of GA progression. Replication in other populations is needed to establish the existence of an association. Copyright 2010 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

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Year:  2010        PMID: 20381870      PMCID: PMC2904435          DOI: 10.1016/j.ophtha.2009.12.012

Source DB:  PubMed          Journal:  Ophthalmology        ISSN: 0161-6420            Impact factor:   12.079


  45 in total

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6.  Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.

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Authors:  Bert Gold; Joanna E Merriam; Jana Zernant; Lisa S Hancox; Andrew J Taiber; Karen Gehrs; Kevin Cramer; Julia Neel; Julie Bergeron; Gaetano R Barile; R Theodore Smith; Gregory S Hageman; Michael Dean; Rando Allikmets
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  29 in total

1.  Changes in retinal sensitivity in geographic atrophy progression as measured by microperimetry.

Authors:  Annal D Meleth; Pradeep Mettu; Elvira Agrón; Emily Y Chew; Srinivas R Sadda; Frederick L Ferris; Wai T Wong
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-02-28       Impact factor: 4.799

Review 2.  [Clinical characteristics, progression and risk factors of geographic atrophy].

Authors:  C K Brinkmann; C Adrion; U Mansmann; S Schmitz-Valckenberg; F G Holz
Journal:  Ophthalmologe       Date:  2010-11       Impact factor: 1.059

3.  Does toll-like receptor-3 (TLR-3) have any role in Indian AMD phenotype?

Authors:  Neel Kamal Sharma; Kaushal Sharma; Amod Gupta; Sudesh Prabhakar; Ramandeep Singh; Pawan Kumar Gupta; Akshay Anand
Journal:  Mol Cell Biochem       Date:  2014-03-30       Impact factor: 3.396

4.  Insights into the loss of the Y chromosome with age in control individuals and in patients with age-related macular degeneration using genotyping microarray data.

Authors:  Felix Grassmann; Bernhard H F Weber; Reiner A Veitia
Journal:  Hum Genet       Date:  2019-05-27       Impact factor: 4.132

5.  Progression of Geographic Atrophy in Age-related Macular Degeneration: AREDS2 Report Number 16.

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Review 7.  A window to innate neuroimmunity: Toll-like receptor-mediated cell responses in the retina.

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8.  Systemic complement inhibition with eculizumab for geographic atrophy in age-related macular degeneration: the COMPLETE study.

Authors:  Zohar Yehoshua; Carlos Alexandre de Amorim Garcia Filho; Renata Portella Nunes; Giovanni Gregori; Fernando M Penha; Andrew A Moshfeghi; Kang Zhang; Srinivas Sadda; William Feuer; Philip J Rosenfeld
Journal:  Ophthalmology       Date:  2013-11-26       Impact factor: 12.079

9.  Polymorphisms in ARMS2/HTRA1 and complement genes and age-related macular degeneration in India: findings from the INDEYE study.

Authors:  Periasamy Sundaresan; Praveen Vashist; Ravilla D Ravindran; Ashwini Shanker; Dorothea Nitsch; Bareng A S Nonyane; Liam Smeeth; Usha Chakravarthy; Astrid E Fletcher
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-11-01       Impact factor: 4.799

Review 10.  Immunology of age-related macular degeneration.

Authors:  Jayakrishna Ambati; John P Atkinson; Bradley D Gelfand
Journal:  Nat Rev Immunol       Date:  2013-06       Impact factor: 53.106

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