May 2007
Volume 48, Issue 13
ARVO Annual Meeting Abstract  |   May 2007
New Genes Associated to Age Related Macular Degeneration
Author Affiliations & Notes
  • M. Sanchez-Salorio
    Univ of Santiago de Compostela, Santiago de Compostela, Spain
    Ophthal-Fndn Inst Galego,
  • M. De la Fuente
    Univ of Santiago de Compostela, Santiago de Compostela, Spain
    Ophthal-Fndn Inst Galego,
  • M. Brion
    Univ of Santiago de Compostela, Santiago de Compostela, Spain
    Grupo de Medicina Xenomica, CEGEN-IML,
  • Spanish Multi-Center Group of Genetic ARMD
    Univ of Santiago de Compostela, Santiago de Compostela, Spain
  • Footnotes
    Commercial Relationships M. Sanchez-Salorio, Pfizer, F; M. De la Fuente, None; M. Brion, None.
  • Footnotes
    Support FISS Grant PI05238
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 3007. doi:
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    • Get Citation

      M. Sanchez-Salorio, M. De la Fuente, M. Brion, Spanish Multi-Center Group of Genetic ARMD; New Genes Associated to Age Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2007;48(13):3007.

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      © ARVO (1962-2015); The Authors (2016-present)

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In developed countries, after the age of 65, at least one in five people develop age related macular degeneration (ARMD), a multifactorial disease which can cause almost total blindness, leaving only peripheral vision intact. Despite its high prevalence, many of the factors related to an increment of the risk of suffering from the disease remain obscure. Some environmental factors like smoking have been highlighted as risk factor to ARMD and association studies have identified several major risk variants in the complement factor H gene (CFH), the PLEKH1/LOC387715 region. However, new articles are being published that indicate variants in new genes, such us the factor B (BF) and complement component 2 (C2), are related to the disease.


A total of 387 SNPs distributed among 56 candidate genes were analyzed with SNPlex technology (Applied Biosystems) in 360 ARMD affected (exudative, atrophic and mixed) and 360 healthy individuals. The results were processed to test for possible genetic association with each of the different forms of the disease. SNP frequencies were compared between case and controls, adjusting for multiple testing using permutations.


*p values and ORs were calculated for risk allele and genotypes, respectively.  


We replicated the association with CFH and LOC387715. As well as this, new results of association were found: the Fibroblast grow factor 2 (FGF2) appears as candidate gene responsible for AMD, and particularly for Atrophic AMD; Angiogenin (ANG), Ceruloplasmin (CP) and Tumor necrosis factor (TNF) appear as candidate genes with a possible positive association to exudative AMD; Apart from apolipoprotein E (APOE) and the very low density lipoprotein receptor (VLDL), previously reported with positive effects on AMD, platelet-derived grow factor beta (PDGFB) also appears as candidate gene for the mixed phenotype of the disease. It is important to achieve independent replication of the positive findings obtained in this study; therefore we are currently collecting new samples.

Keywords: age-related macular degeneration • gene microarray • genetics 

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