title: Further support for the common variants in complement factor H (Y402H) and LOC387715 (A69S) genes as major risk factors for the exudative age-related macular degeneration.
abstract: In developed countries, age-related macular degeneration (ARMD) is a common cause of blindness in the elderly. It is a clinically complex and genetically heterogeneous disorder. The etiology of the disorder may involve interactions between genetic and environmental factors. Recently it has been reported that a polymorphism in the complement factor H (CFH) and LOC387715 gene may determine the susceptibility of individuals to ARMD. In order to replicate and to determine the frequency of this polymorphism in ARMD patients, we have analyzed two unrelated families having exudative ARMD. Our analysis has identified the same common polymorphism (Y402H) in the CFH gene in one family and the A69S polymorphism in the LOC387715 gene in the second family. These results further support the notion that CFH and LOC387715 genes are the major risk factors for ARMD.
authors.affiliation: Department of Biological Sciences, Oakland University, Rochester, MI 48309-4401, USA. shastry@oakland.edu
authors.forename: Barkur S
authors.initials: BS
authors.lastname: Shastry
mesh_terms: D000368:Aged; D020256:Choroidal Neovascularization / Q000235:genetics; D017242:Complement Factor H / Q000235:genetics; D005122:Exudates and Transudates; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000473:pathology; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics; D012163:Retinal Detachment / Q000235:genetics; D012307:Risk Factors; D017422:Sequence Analysis, DNA
chemical_list: C514392:ARMS2 protein, human; C493495:CFH protein, human; D011506:Proteins; D017242:Complement Factor H