Miene variation in the fibulin 5 gene and age-related macular degeneration

A number of tudie have uggeted that both genetic and environmental factor play a role in age-related macular degeneration (AMD). In thi tudy, the author evaluated five fibulin gene in a large erie of patient with AMD. The fibulin are a recently identified family of ix extracellular matrix protein that have role in the aembly and tabilization of upramolecular extracellular-matrix-complexe. The author tudied 402 unrelated patient with AMD and 429 control ubject from the ame clinic population. DNA ample were creened for equence variation in five member of the fibulin gene family. Amino acid-altering equence variation were found in all five fibulin gene, many of which were oberved only in patient with AMD. even of the 402 patient with AMD had amino acid-altering equence variation in the fibulin 5 gene, wherea none were oberved among 429 control ubject (P < .01). Additionally, thee even patient all had mall, circular druen, which are commonly referred to a baal laminar or cuticular druen. In thi tudy, miene mutation in the fibulin 5 gene were found in 1.7 percent of patient with AMD. Many variation in other fibulin gene were alo found in thee patient. The author conclude that the evolutionary conervation of the affected reidue ugget that everal of thee variation may alo be involved in AMD.—Valerie Bioue