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S. Theru Arumugam, R. P. Igo, Jr., L. J. Kopplin, K. E. Lee, R. Klein, B. E. K. Klein, S. K. Iyengar; Association of Copy Number Variations With Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2476.
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Age-related macular degeneration (AMD) is the leading cause of blindness in people over 65 yr. of age. The aim of this study is to evaluate the contribution of copy number variations to AMD susceptibility.
We genotyped 293 samples participating in a familial AMD study using Affymetrix Genome-wide Human SNP Array 5.0. The genotypes of 1047 copy number polymorphic regions were called from the probe intensity data using Birdsuite program version 1.5. After stringent quality criteria, a total of 307 copy number polymorphisms (CNPs) were tested for association with AMD using a linear mixed model controlling for family relationships. AMD severity was determined by grading stereoscopic color fundus photography using the Wisconsin Age-Related Maculopathy grading scheme and the modified Wisconsin AMD severity scale
We observed ten different CNPs associated with AMD. Increase in number of deleted copies at five of these CNP regions found to confer protection against AMD (p < 0.05), including CNP147, which involves deletion of CFHR3 and CFHR1, whereas the increase in deleted copies at remaining CNP regions conferred risk for AMD (p < 0.05). These results are being replicated in independent case-control as well as family cohorts.
We describe the association of AMD with CNPs across the human genome. In addition to confirming the protective effect of deletion at CNP147, we found several novel CNPs associated with AMD.
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