Bringing age-related macular degeneration into focus

摘要

Genetic studies of AMD stand out from those on other complex disorders in a field notorious for competitiveness and controversy. Since the identification of ABCA4 {ABCR) as the first AMD-associated gene in 1997 (ref. 1), there has been more dispute than agreement between the studies, even though AMD is a genetically well-defined complex trait. Ten years ago, problematic issues, such as lack of statistical power (small sample size), cumbersome genotyping technologies and poorly defined cohorts were inherent to all genetic studies of complex traits. Although these problems have been overcome, there have been some publications in recent years of preliminary and unconfirmed information in genetic associations to AMD. On page 892 of this issue, Bernhard Weber and colleagues seek to resolve one such continuing question surrounding the nature of a major AMD locus on chromosome 10q26 through an elegant and straightforward approach of resequencing the genetic locus#