April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Different genetic polymorphisms are associated with different phenotypes on non-proliferative diabetic retinopathy
Author Affiliations & Notes
  • Conceicao Lobo
    AIBILI - Association for Innovation and Biomedical Research on Light and Image, Coimbra, Portugal
    Faculty of Medicine, University of Coimbra, Coimbra, Portugal
  • Sandrina Nunes
    AIBILI - Association for Innovation and Biomedical Research on Light and Image, Coimbra, Portugal
    Faculty of Medicine, University of Coimbra, Coimbra, Portugal
  • Miguel Costa
    AIBILI - Association for Innovation and Biomedical Research on Light and Image, Coimbra, Portugal
  • Luisa Ribeiro
    AIBILI - Association for Innovation and Biomedical Research on Light and Image, Coimbra, Portugal
    Faculty of Medicine, University of Coimbra, Coimbra, Portugal
  • Rui Bernardes
    AIBILI - Association for Innovation and Biomedical Research on Light and Image, Coimbra, Portugal
    Faculty of Medicine, University of Coimbra, Coimbra, Portugal
  • Maria J Simões
    Genoinseq, Next Generation Sequencing Unit, Biocant, Cantanhede, Portugal
  • Conceição Egas
    Genoinseq, Next Generation Sequencing Unit, Biocant, Cantanhede, Portugal
  • Carlos Faro
    Genoinseq, Next Generation Sequencing Unit, Biocant, Cantanhede, Portugal
  • Jose G Cunha-Vaz
    AIBILI - Association for Innovation and Biomedical Research on Light and Image, Coimbra, Portugal
    Faculty of Medicine, University of Coimbra, Coimbra, Portugal
  • Footnotes
    Commercial Relationships Conceicao Lobo, None; Sandrina Nunes, None; Miguel Costa, None; Luisa Ribeiro, None; Rui Bernardes, None; Maria Simões, None; Conceição Egas, None; Carlos Faro, None; Jose Cunha-Vaz, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 2240. doi:https://doi.org/
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      Conceicao Lobo, Sandrina Nunes, Miguel Costa, Luisa Ribeiro, Rui Bernardes, Maria J Simões, Conceição Egas, Carlos Faro, Jose G Cunha-Vaz; Different genetic polymorphisms are associated with different phenotypes on non-proliferative diabetic retinopathy. Invest. Ophthalmol. Vis. Sci. 2014;55(13):2240. doi: https://doi.org/.

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

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Abstract

Purpose: To examine the association of different candidate genes with different phenotypes of non-proliferative diabetic retinopathy (NPDR) and risk for development of clinically significant macular edema (CSME).

Methods: A population of 307 diabetic patients with NPDR, followed-up during a 2 years prospective study was classified in 3 different phenotypes of DR progression based on non-invasive methods: Color Fundus Photography (CFP) to assess microaneurysm turnover (MAT) using the RetmarkerDR and Optical Coherence Tomography (OCT) to measure Retinal Thickness (RT). The development of CSME was also addressed. Eleven genes were selected from a list of candidate genes (ACE, AGER, AKR1B1, ICAM1, MTHFR, NOS-1, NOS-3, PPARGC1A, TGFB1, TNF-a, and VEGFA) and their SNPs (174) filtered through bioinformatics tools.

Results: We identified three variants in NOS1 (rs1552228, P=0.022) and AKR1B1 (rs1790998, P=0.010; rs5053, P=0.018) specifically associated with phenotype B. Variants in genes ICAM1 (rs5030400, P=0.041), PPARGC1A (rs10213440, P=0.004) and VEGFA (rs3024994, P=0.011) were specifically associated with phenotype C. Two variants in ICAM1 showed an association with CSME development (rs1801714, P=0.047; rs5498, P=0.035).

Conclusions: Our observations provide a genetic basis to the understanding of mild NPDR and development of CSME suggesting a different pathophysiology for each different phenotype.

Keywords: 499 diabetic retinopathy • 539 genetics  
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