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DA Goldman, B Yashar, KR Wollenberg, E Filippova, CA Puliafito, A Swaroop, ME Fini; No Evidence for Association between Specific Transforming Growth Factor-Beta1 (TGF-ß1) Polymorphisms and Age-Related Macular Degeneration (AMD) . Invest. Ophthalmol. Vis. Sci. 2002;43(13):2835.
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Purpose: Transforming growth factor-beta (TGF-ß) has been implicated as a factor in the development of age-related macular degeneration (AMD). The proposed roles for involvement of TGF-ß include, but are not limited to, stimulation of angiogenesis, stimulation of extracellular matrix deposition and inhibition of matrix turnover, and chemotactic attraction of monocytes through Bruch's membrane. Several polymorphisms at nucleotide positions 10 (T -≷ C) and 25 (G -≷ C) of the gene for TGF-ß1 are related to elevated production of the encoded cytokine, and have been associated with pathologies such as fibrotic lung disease and organ transplant failure. We sought to determine whether the high producing genotype is predictive of AMD. Methods: We genotyped these alleles in 48 patients with exudative AMD (as defined by either neovascularization bilaterally or neovascularizaton in one eye and large macular drusen in the other eye) and 44 control patients utilizing Cytokine Genotyping trays (OneLambda, Canoga Park, CA). Results: We found no significant differences in the frequency of high producing alleles between patients with exudative AMD and controls (66.67% vs 68.18%, confidence level = 12.27%, z-value = .1544). Conclusions: These preliminary studies suggest that TGF-ß1 gene polymorphisms previously associated with increased levels of production are not likely to be major risk factors in the development of exudative age-related macular degeneration.
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