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Editorial |

Predictive Value of Multiple Genetic Testing for Age-Related Macular Degeneration

Dominiek D. G. Despriet, MD; Caroline C. W. Klaver, MD, PhD; Cornelia C. van Duijn, PhD; A. Cecile J. W. Janssens, PhD
Arch Ophthalmol. 2007;125(9):1270-1271. doi:10.1001/archopht.125.9.1270.
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The unraveling of the genetic background of age-related macular degeneration (AMD) is occurring at a tremendously fast pace. Researchers have shown that single nucleotide polymorphisms (SNPs) in the CFH, LOC387715, C2/FB, and HTRA1 genes are highly associated with AMD110 and have estimated that they explain more than 50% of all cases.2,4,7,10 These genetic discoveries are a major breakthrough for understanding the pathogenesis of the disease, but whether they can be used to improve the prediction of end-stage AMD in individuals at risk is still open to question.11 This requires that testing of multiple SNPs, or genetic profiling, be a better predictor than classic risk factors.

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Risk of age-related macular degeneration (AMD) as a function of the risk variants. Odds ratios based on the logistic regression model by Maller et al12 are calculated relative to a reference group (R), which has a post-test AMD risk equal to the population risk of AMD in persons aged 65 years or older (3%).

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