April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Assessing Differential Genetic Effects Of Gene Variants On Choroidal Neovascularization And Geographic Atrophy
Author Affiliations & Notes
  • Clara Lee
    Ophthalmology, Institute for Genomic Medicine and Shiley Eye Center, University of California San Diego, La Jolla, California
  • Guy Hughes
    Ophthalmology, Institute for Genomic Medicine and Shiley Eye Center, University of California San Diego, La Jolla, California
  • Ye Wang
    Ophthalmology, Institute for Genomic Medicine and Shiley Eye Center, University of California San Diego, La Jolla, California
  • Maureen Crocker
    Ophthalmology, Institute for Genomic Medicine and Shiley Eye Center, University of California San Diego, La Jolla, California
  • Seanna Grob
    Ophthalmology, Institute for Genomic Medicine and Shiley Eye Center, University of California San Diego, La Jolla, California
  • Mark Nelson
    RetinaNet Corporation, Winston Salem, North Carolina
  • Michael Goldbaum
    Ophthalmology, Institute for Genomic Medicine and Shiley Eye Center, University of California San Diego, La Jolla, California
  • Paul Tornambe
    Ophthalmology, Scripps Health, La Jolla, California
  • Yuhong Chen
    Ophthalmology, Institute for Genomic Medicine and Shiley Eye Center, University of California San Diego, La Jolla, California
    Department of Ophthalmology & Vision Science, Eye and ENT Hospital, Shanghai Medical School, Fudan University, Shanghai, China
  • Kang Zhang
    Ophthalmology, Institute for Genomic Medicine and Shiley Eye Center, University of California San Diego, La Jolla, California
    Department of Ophthalmology & Visual Sciences, Moran Eye Center, University of Utah School of Medicine, Salt Lake City, Utah
  • Footnotes
    Commercial Relationships  Clara Lee, None; Guy Hughes, None; Ye Wang, None; Maureen Crocker, None; Seanna Grob, None; Mark Nelson, None; Michael Goldbaum, None; Paul Tornambe, None; Yuhong Chen, None; Kang Zhang, None
  • Footnotes
    Support  RPB Burroughs Wellcome Fund RO1EY14428, RO1EY14448, RO1EY18660, Transformative RO1EY021374-01
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 5230. doi:https://doi.org/
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    • Get Citation

      Clara Lee, Guy Hughes, Ye Wang, Maureen Crocker, Seanna Grob, Mark Nelson, Michael Goldbaum, Paul Tornambe, Yuhong Chen, Kang Zhang; Assessing Differential Genetic Effects Of Gene Variants On Choroidal Neovascularization And Geographic Atrophy. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5230. doi: https://doi.org/.

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

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Abstract
 
Purpose:
 

To explore differential effects of genetic variants on geographic atrophy (GA) and choroidal neovascularization (CNV) and bilaterality of advanced age-related macular degeneration (AMD).

 
Methods:
 

Demographic information, including age of onset, smoking status and BMI, was collected in 994 CNV, 341 GA patients and 509 normal controls. Genotypes were evaluated for variants in five genes related to AMD. Statistical analyses were performed to generate a model.

 
Results:
 

All genetic variants showed strong association with AMD. We did not find a difference in allele frequency of the two major susceptibility genes CFH and HTRA1 in respect to GA and CNV. However, the risk allele of C3 rs2230199 was significantly higher in GA (32.4%) than in CNV (26.4%) (P = 5.99E-03) when adjusted for age and gender. CFH rs2274700 and CFH rs1410996 were enriched in bilateral GA compared to that in unilateral GA. HTRA1 rs11200638 was enriched in bilateral CNV compared to unilateral CNV.

 
Conclusions:
 

CFH confers more risk to bilateral GA, whereas HTRA1 contributes more to bilateral CNV. C3 rs2230199 was enriched in GA compared to CNV. Our study will aid understanding and contribute to the diagnosis and prognosis of AMD in personalized medicine.

 
Keywords: age-related macular degeneration • genetics • choroid: neovascularization 
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