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