Abstract
Purpose: :
To determine a possible implication of complement receptor 1 density polymorphism in the pathogenesis of age-related macular degeneration. The aim is to asses the distribution of the complement receptor 1 density polymorphism and the CFH Y402H polymorphism and the presence of AMD in the Austrian population of Caucasoid descent.
Methods: :
98 patients were included in this case-controlled study. Genomic DNA was isolated from peripheral blood samples taken from 50 AMD patients and 48 age-matched healthy controls. The Complement receptor 1 density polymorphism and the Y402H polymorphism in CFH were determined by polymerase chain reaction-restriction fragment length polymorphism analysis. The association between the genetic polymorphism and the disease were examined by chi(2) test and logistic regression.
Results: :
Genotype frequency of the Complement receptor 1 density polymorphism and the Y402H polymorphism in CFH differed significantly between the two groups showing a p-value < 0.04.
Conclusions: :
Our data shows that more components of the complement system have a key role in the process of age-related macular degeneration.
Keywords: age-related macular degeneration • genetics