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H.K. Hamdi, S.R. Atilano, J. Reznik, R. Castellon, J. Tavis, A.B. Nesburn, K.W. Small, C.M. Kenney; Alu DNA Element in the Progesterone Receptor Gene Attenuates Age-related Macular Degeneration . Invest. Ophthalmol. Vis. Sci. 2003;44(13):3087.
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Purpose:Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly population in the developed world. Several epidemiological studies have shown that women over the age of 75 had twice the incidence of early AMD (drusen) and more than seven times the incidence of late AMD as men (both the atrophic and neovascular AMD). The purpose of this study was to investigate the association of a polymorphic Alu element insertion in the progesterone receptor (PR) gene with AMD. Methods: Genomic DNA was isolated from white blood cells obtained from the peripheral blood of control and AMD subjects at the American Eye Institute (Los Angeles, CA) and Jules Stein Eye Institute at the University of California, Los Angeles (Los Angeles, CA). The classification of AMD severity was performed by board certified ophthalmologists (M.C.K., A.B.N., and K.W.S.), according to a slightly modified criterion from the International ARM Study Group. Total genomic DNA (0.3 µg) from control and AMD subjects was amplified by the polymerase chain reaction. Results: We found a highly significant excess of the PR Alu+/+ and Alu+/- genotypes in controls (n=199) compared with AMD (n=147; chi-square =13.7, d.f. =2, p=0.001). This yielded an odds ratio (OR) of 2.5 (95% CI=1.5-4.1). Conclusions:Although Alu element insertions have been shown to cause disease, the acquisition of an Alu in the PR gene appears beneficial and protects individuals from acquiring the major ocular disease AMD.
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