Genetic epidemiology: successes and challenges of genome-wide association studies using the example of age-related macular degeneration.

摘要

WITH INCREASING EVIDENCE OF IMPORTANCE OF genetic factors and gene-environment interactions in the etiology of common eye-related disorders, identification of genetic variation associated with a disease risk may help provide insight into the mechanism of disease pathogenesis and reveal novel targets for preventive and therapeutic interventions. Family-based studies have identified genomic regions associated with highly penetrant genes related to rare familial forms of eye diseases. However, late-onset complex phenotypes, such as age-related macular degeneration (AMD), appear to be polygenic, with the involvement of multiple genes, with varying levels of effect.