Genomic DNA analysis of AMD patients provide valuable predictability tools for assessing genetic risk

Researchers based at the Department of Cellular and Molecular Medicine, Centro de Investigaciones Biologicas (CSIC) and Ciber de Enfermedades Raras (CIBERER), Madrid, have reported on the contribution of the recently discovered CFHR1 gene to age related macular degeneration (AMD). Genomic DNA analysis on 259 patients with advanced AMD and 191 age-matched controls showed that a particular CFHR1 allotype, CFHR1*A, strongly associates with AMD (odds ratio, 2.08; 95% confidence interval, 1.59-2.73; P<0.0001). Modeling of disease risk based on the CFHR1 gene, and other established genotypes, provides a valuable predictability tool with a sensitivity and specificity of approximately 70%.