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Genetic influences on biomarkers in AMD
Author(s) -
CHONG V
Publication year - 2009
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2009.2343.x
Subject(s) - genotype , phenotype , complement system , macular degeneration , biomarker , genotype phenotype distinction , factor h , complement factor i , biology , immunology , genetics , gene , medicine , antibody , ophthalmology
Purpose To describe the genetic influences on biomarkers in age‐related macular degeneration (AMD). Methods We have previously demonstrated that AMD is associated with systemic activation of complement factors, alternation of cytokine levels, and changes in the matrix protein level. In this study, we examine the association of these changes with the genotype of the common "AMD" genes. Results Activation of complement factors were closely associated with "at risk" complement factor polymorphisms. Plasma cytokine levels were not associated with complement factor H polymorphisms, but were associated with the "at risk" HTRA1 polymorphisms. Plasma matrix protein showed a trend association with the "at risk" HTRA1 polymorphisms. Conclusion Traditional genotype‐phenotype correlation is based on clinical phenotype. Biomarker research is leading to a new area of genotype‐phenotype correlation research. It is unclear at this stage, how important these correlations are. Further studies are required.