May 2007
Volume 48, Issue 13
ARVO Annual Meeting Abstract  |   May 2007
Single Marker Associations of NFkB Pathway Genes With Advanced AMD
Author Affiliations & Notes
  • S. N. Ajudua
    NEI-NIH, Bethesda, Maryland
    Brown Medical School, Howard Hughes Medical Institute-NIH Research Scholar, Bethesda, Maryland
  • M. Elashoff
    EMMES Corp., Rockville, Maryland
  • E. Y. Chew
    NEI-NIH, Bethesda, Maryland
  • A. Vora
    NEI-NIH, Bethesda, Maryland
    Robert Wood Johnson Medical School, Clinical Research Training Program-NIH, Bethesda, Maryland
  • G. F. Reed
    NEI-NIH, Bethesda, Maryland
  • E. Agron
    NEI-NIH, Bethesda, Maryland
  • A. K. Henning
    EMMES Corp., Rockville, Maryland
  • T. E. Clemons
    EMMES Corp., Rockville, Maryland
  • J. Hoh
    Yale University, New Haven, Connecticut
  • J. P. SanGiovanni
    NEI-NIH, Bethesda, Maryland
  • Footnotes
    Commercial Relationships S.N. Ajudua, None; M. Elashoff, None; E.Y. Chew, None; A. Vora, None; G.F. Reed, None; E. Agron, None; A.K. Henning, None; T.E. Clemons, None; J. Hoh, None; J.P. SanGiovanni, None.
  • Footnotes
    Support DHHS/NIH/NEI/contracts; SNA is supported by a HHMI Research Scholarship; AV is supported by a Pfizer Inc. grant for the Clinical Research Training Program
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 2088. doi:
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    • Get Citation

      S. N. Ajudua, M. Elashoff, E. Y. Chew, A. Vora, G. F. Reed, E. Agron, A. K. Henning, T. E. Clemons, J. Hoh, J. P. SanGiovanni; Single Marker Associations of NFkB Pathway Genes With Advanced AMD. Invest. Ophthalmol. Vis. Sci. 2007;48(13):2088.

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

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Purpose:: To examine the association of allelic variants in NFkB pathway genes with advanced age-related macular degeneration (AMD).

Methods:: We applied data from a whole-genome case-control association study to investigate single nucleotide polymorphisms (SNPs) of a cohort of 146 elderly people; 50 healthy people without AMD, 50 people with neovascular (NV) AMD, and 46 people with central geographic atrophy (CGA). Details of the study design, outcome ascertainment, genomic profiling, and participant characteristics exist in Klein et al. (Science; 308:385. 2005). We used a curated gene catalogue and the Ensembl and NCBI databases to identify all SNPs on a microarray with positional markers in regions of genes in the NFkB pathway. Final analyses were performed on restricted SNPs that met our data quality filters (based on call frequency and Hardy-Weinberg equilibrium); this amounted to 167 SNPs in regions of 55 genes. We compared allele combinations of these SNPs in healthy controls to those in people with advanced AMD. A p-value threshold of 0.002 for allelic association with AMD was determined from a false discovery rate analysis.

Results:: Three markers for CGA emerged in our additive models. We did not observe NFkB-AMD relationships for NV AMD or advanced AMD (NV AMD + CGA).

Conclusions:: These novel findings demonstrate an association between SNPs in the NFkB pathway genes and CGA. Results will be validated in gene set analysis with forthcoming data from age-related eye disease study (AREDS).

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

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